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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
COBRA1	25920	broad.mit.edu	37	9	140158762	140158762	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr9:140158762G>A	uc004cmm.4	+	5	1052	c.849G>A	c.(847-849)ctG>ctA	p.L283L		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	283					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CGCGGGAGCTGCAGGGGTTTC	0.672000													6	21					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2639398	2639398	+	Nonstop_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr20:2639398T>A	uc002wgp.3	-	11	1166	c.1157A>T	c.(1156-1158)tAg>tTg	p.*386L	IDH3B_uc002wgq.3_Intron|IDH3B_uc002wgr.3_Nonstop_Mutation_p.*234L	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TAAAGGGCTCTAGCTCCCTTT	0.547000													8	147					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83769958	83769958	+	Splice_Site	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr4:83769958T>G	uc003hnh.3	-	20	2682	c.2502_splice	c.e20+1	p.H834_splice	SEC31A_uc003hne.3_Splice_Site_p.H567_splice|SEC31A_uc011ccl.2_Splice_Site_p.H795_splice|SEC31A_uc003hnl.3_Splice_Site_p.H795_splice|SEC31A_uc003hng.3_Splice_Site_p.H834_splice|SEC31A_uc011ccm.2_Splice_Site_p.H829_splice|SEC31A_uc003hni.3_Splice_Site_p.H834_splice|SEC31A_uc003hnk.3_Splice_Site_p.H795_splice|SEC31A_uc003hnf.3_Splice_Site_p.H834_splice|SEC31A_uc011ccn.2_Splice_Site_p.H834_splice|SEC31A_uc003hnm.3_Splice_Site_p.H834_splice|SEC31A_uc003hnn.2_Splice_Site_p.H834_splice	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	834	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATCACTCACATGGGGATAATA	0.448000													18	98					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9571742	9571742	+	Missense_Mutation	SNP	C	C	G	rs74062845	by1000genomes	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:9571742C>G	uc001qvy.1	-	2	231	c.168G>C	c.(166-168)gaG>gaC	p.E56D	DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.E834Q(1)									TGCACAGGTTCTCCACCAGAG	0.642000													5	89					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343361	103343361	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:103343361G>A	uc002tcb.2	-	3	438	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.L63F	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	124					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCGAGAAGGAGATAGCCCAGA	0.488000													5	174					0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73735652	73735652	+	Silent	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:73735652G>T	uc002avq.3	+	0	154	c.126G>T	c.(124-126)ctG>ctT	p.L42L	C15orf60_uc010bjb.3_Silent_p.L42L	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	42										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GGCCATGCCTGGAAGCTGGGA	0.652000													5	31					1	1	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262352	39262352	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr13:39262352G>C	uc001uwv.3	+	0	1180	c.871G>C	c.(871-873)Gct>Cct	p.A291P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	291					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)		TTCACGAGGGGCTCCTGTGGG	0.617000													17	65					0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156169658	156169658	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:156169658T>C	uc009wrr.3	+	1	342	c.20T>C	c.(19-21)aTc>aCc	p.I7T	SLC25A44_uc001fnp.3_Missense_Mutation_p.I7T|SLC25A44_uc010phc.2_Missense_Mutation_p.I7T|SLC25A44_uc010phd.2_Intron|SLC25A44_uc010phe.2_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA.	7					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					AAACGCAACATCCAGATCATC	0.507000													13	91					0	0	1	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58066651	58066651	+	Silent	SNP	C	C	T	rs144367363	by1000genomes	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:58066651C>T	uc002iyf.2	-	8	721	c.486G>A	c.(484-486)caG>caA	p.Q162Q	AK097658_uc002iye.1_Intron					Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		ACTGGTAAAGCTGTTTAAGAG	0.333000													6	124					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35505160	35505160	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:35505160C>G	uc010xsf.1	+	9	953	c.953C>G	c.(952-954)cCg>cGg	p.P318R	GRAMD1A_uc002nxi.1_Missense_Mutation_p.P400R|GRAMD1A_uc010xse.1_Missense_Mutation_p.P313R|GRAMD1A_uc002nxk.2_Missense_Mutation_p.P306R|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P79R|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	313						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACAGTGACCCCGGTGGCTGAA	0.652000													19	113					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122777747	122777747	+	Silent	SNP	A	A	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:122777747A>G	uc003pyy.1	-	2	320	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	84					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TAGCCAACCAAAATGTTACAA	0.333000													9	43					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52429465	52429465	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:52429465T>A	uc011bef.2	+	68	11371	c.11110T>A	c.(11110-11112)Tcc>Acc	p.S3704T	DNAH1_uc003ddv.3_Missense_Mutation_p.S562T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3769					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)		CTCTGCCATCTCCCTGGGCCA	0.627000													27	121					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73273550	73273550	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:73273550G>C	uc002jns.4	-	4	1568	c.658C>G	c.(658-660)Ctg>Gtg	p.L220V	SLC25A19_uc010dge.3_Missense_Mutation_p.L163V|SLC25A19_uc002jnv.4_Missense_Mutation_p.L220V|SLC25A19_uc002jnu.4_Missense_Mutation_p.L220V|SLC25A19_uc002jnw.4_Missense_Mutation_p.L220V|SLC25A19_uc002jnt.4_Missense_Mutation_p.L220V	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	220						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CCACAAAGCAGGTTTTGGAGG	0.512000													18	61					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89105224	89105224	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:89105224T>G	uc021ryf.1	-	30	4514	c.4265A>C	c.(4264-4266)aAt>aCt	p.N1422T	EML5_uc001xxf.3_Missense_Mutation_p.N209T|EML5_uc021ryg.1_Missense_Mutation_p.N1422T|EML5_uc001xxh.1_Missense_Mutation_p.N553T	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1414						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						AATATCATCATTATGTTCCTG	0.333000													8	36					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69368509	69368509	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:69368509A>T	uc002ewy.2	-	2	1399	c.1328T>A	c.(1327-1329)cTg>cAg	p.L443Q		NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	443					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GAAGGCAACCAGAATATTGTT	0.597000													19	100					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751142	40751142	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:40751142C>A	uc001zlu.2	+	1	550	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BAHD1_uc001zlt.2_Missense_Mutation_p.A160D|BAHD1_uc010bbp.1_Missense_Mutation_p.A160D|BAHD1_uc001zlv.2_Missense_Mutation_p.A160D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	160					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTGATCGTGCTACTGGGGGC	0.672000													5	27					2.74318e-10	3.06975e-10	1	1	0
LPCAT3	10162	broad.mit.edu	37	12	7125633	7125633	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:7125633C>T	uc001qsi.3	-	0	210	c.96G>A	c.(94-96)gcG>gcA	p.A32A	LPCAT3_uc010sfw.2_Intron|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_5'UTR|C1S_uc001qsj.3_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	32					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CCAGGGACGTCGCCAACTTGT	0.662000													29	68					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978789	63978789	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:63978789C>T	uc001nyl.2	+	4	706	c.557C>T	c.(556-558)tCg>tTg	p.S186L	FERMT3_uc001nym.2_Missense_Mutation_p.S186L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	186					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACTTCTCGGACAGCGCC	0.701000													3	28					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70316474	70316474	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:70316474C>T	uc004dys.2	+	0	476	c.96C>T	c.(94-96)acC>acT	p.T32T	FOXO4_uc004dyt.2_Silent_p.T32T	NM_005938	NP_005929	P98177	FOXO4_HUMAN	Homo sapiens forkhead box O4 (FOXO4), transcript variant 1, mRNA.	32				QSRPRSCTWP -> RAVPLLHLA (in Ref. 1; CAA72156).	G1 phase of mitotic cell cycle|cell cycle arrest|cell differentiation|embryo development|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCTCCTGCACCTGGCCCCTTC	0.637000													15	48					0	0	1	0	0
C12orf29	91298	broad.mit.edu	37	12	88442035	88442035	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:88442035T>A	uc001tao.3	+	6	972	c.814T>A	c.(814-816)Tgc>Agc	p.C272S	C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	Homo sapiens chromosome 12 open reading frame 29 (C12orf29), mRNA.	272										large_intestine(3)|lung(1)|ovary(1)	5						TCTTGGCTTATGCTGGCCAAT	0.363000													24	69					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54527970	54527970	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:54527970A>G	uc001jjt.3	-	3	739	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	225	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATTTTTCAGTAGCAATACACA	0.502000													27	137					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195506331	195506331	+	Silent	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:195506331T>A	uc021xjp.1	-	1	12276	c.12120A>T	c.(12118-12120)tcA>tcT	p.S4040S	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_5'UTR|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_5'UTR|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	812					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGC	0.577000													2	5					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142279142	142279142	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:142279142G>T	uc003eux.4	-	5	1626	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	502					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGTACACAGAGCAGTCAGT	0.378000								Other conserved DNA damage response genes					22	143					5.61819e-17	6.60137e-17	1	1	0
CP	1356	broad.mit.edu	37	3	148924070	148924070	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:148924070T>G	uc003ewy.4	-	5	1346	c.1093A>C	c.(1093-1095)Aat>Cat	p.N365H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N146H|CP_uc003ewz.3_Missense_Mutation_p.N365H|CP_uc010hvf.1_Missense_Mutation_p.N91H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	365					cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCACGGATATTATCCTTTGAT	0.408000													8	76					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462497	228462497	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:228462497G>C	uc009xez.1	+	19	5952	c.5908G>C	c.(5908-5910)Gtg>Ctg	p.V1970L	OBSCN_uc001hsn.3_Missense_Mutation_p.V1970L|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1970	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGATCACCGTGGAGGCTGA	0.652000													14	61					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391937	139391937	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr9:139391937G>A	uc004chz.3	-	33	6254	c.6254C>T	c.(6253-6255)gCc>gTc	p.A2085V		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2085					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCCGGTTGGCAAAGTGGTC	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	46					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162231	239162231	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:239162231G>A	uc002vyc.3	-	18	2670	c.2433C>T	c.(2431-2433)acC>acT	p.T811T	PER2_uc010znv.1_Silent_p.T811T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	811					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCCCAGATCCGGTGCTCTCAG	0.572000													8	22					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113333603	113333603	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:113333603C>A	uc010syl.2	+	20	2241	c.1879C>A	c.(1879-1881)Cac>Aac	p.H627N	RPH3A_uc001ttz.3_Missense_Mutation_p.H627N|RPH3A_uc001tty.3_Missense_Mutation_p.H623N|RPH3A_uc010sym.2_Missense_Mutation_p.H578N|RPH3A_uc001tua.3_Missense_Mutation_p.H387N	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	627	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.A627T(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGACATCAAACACAGTGACCT	0.473000													8	65					0.0692343	0.0699788	1	1	0
USH2A	7399	broad.mit.edu	37	1	215820886	215820886	+	Silent	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:215820886G>T	uc001hku.1	-	66	15156	c.14769C>A	c.(14767-14769)atC>atA	p.I4923I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4923	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.W4922*(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTGAAACTGATCCACTCGG	0.532000										HNSCC(13;0.011)			19	100					5.35356e-11	6.13701e-11	1	1	0
OCRL	4952	broad.mit.edu	37	X	128678970	128678970	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:128678970T>G	uc004euq.3	+	2	320	c.155T>G	c.(154-156)gTt>gGt	p.V52G	OCRL_uc004eur.3_Missense_Mutation_p.V52G	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	52					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GAACAGCATGTTCAAGATATC	0.348000													9	17					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872808	213872808	+	Splice_Site	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:213872808C>A	uc002vem.3	-	8	1026	c.857_splice	c.e8-1	p.G286_splice	IKZF2_uc010fuu.3_Splice_Site_p.G141_splice|IKZF2_uc002vej.3_Splice_Site_p.G233_splice|IKZF2_uc002vek.3_Splice_Site|IKZF2_uc010fuv.3_Splice_Site_p.G212_splice|IKZF2_uc002vel.3_Splice_Site_p.G207_splice|IKZF2_uc010fuw.3_Splice_Site_p.G60_splice|IKZF2_uc010fux.3_Splice_Site_p.G60_splice|IKZF2_uc010fuy.3_Splice_Site_p.G214_splice|IKZF2_uc002ven.3_Splice_Site_p.G260_splice|IKZF2_uc002vei.3_Splice_Site_p.G64_splice	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GAGCTTTTCCCCTGGAAGGGA	0.373000													9	50					0.010729	0.0109623	1	1	0
CCDC86	79080	broad.mit.edu	37	11	60609627	60609627	+	Silent	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:60609627G>T	uc001nqa.2	+	0	199	c.30G>T	c.(28-30)cgG>cgT	p.R10R		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	10					interspecies interaction between organisms	nucleus		p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAGCCGACGGCTGGGAGGCC	0.642000													13	54					0.000566183	0.000591347	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68038953	68038953	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:68038953C>A	uc001xjl.1	+	10	1829	c.1687C>A	c.(1687-1689)Cgc>Agc	p.R563S	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R131S|PLEKHH1_uc001xjm.1_Missense_Mutation_p.R78S|PLEKHH1_uc001xjn.1_Missense_Mutation_p.R78S	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	563						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAAACTGCAGCGCACCTCATC	0.662000													8	24					2.17888e-05	2.38156e-05	1	1	0
TMC1	117531	broad.mit.edu	37	9	75355127	75355127	+	Splice_Site	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr9:75355127T>C	uc004aiz.1	+	9	993	c.453_splice	c.e9+2	p.K151_splice	TMC1_uc010moz.1_Splice_Site_p.K109_splice|TMC1_uc004aja.1_Splice_Site|TMC1_uc004ajb.1_Splice_Site|TMC1_uc004ajc.1_Splice_Site_p.K5_splice|TMC1_uc010mpa.1_Splice_Site_p.K5_splice	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	151	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGGCCAAGGTAGGTATTTTT	0.358000													11	37					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38288352	38288352	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:38288352G>T	uc001cce.1	-	8	1349	c.1208C>A	c.(1207-1209)tCa>tAa	p.S403*	MTF1_uc009vvj.1_Nonsense_Mutation_p.S94*	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	403						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCACTGACTGACTCTGCATC	0.438000													6	25					0.000157383	0.000168114	1	1	0
ARMC1	55156	broad.mit.edu	37	8	66534565	66534565	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr8:66534565G>C	uc003xvl.3	-	2	463	c.208C>G	c.(208-210)Cgt>Ggt	p.R70G	ARMC1_uc011leo.2_Missense_Mutation_p.P31R	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	70					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTGTTTGCACGGCATTCTGCC	0.348000													11	48					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350548	41350548	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:41350548G>T	uc002opl.4	-	7	1312	c.1291C>A	c.(1291-1293)Ccc>Acc	p.P431T		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	431					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATGGAAAAGGGCACAAAAGCA	0.567000													37	239					1.23103e-26	1.46477e-26	1	1	0
GBA3	57733	broad.mit.edu	37	4	22737642	22737642	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr4:22737642G>T	uc003gqp.4	+	1	188	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	GBA3_uc010iep.3_Missense_Mutation_p.D33Y|GBA3_uc011bxo.2_Missense_Mutation_p.D34Y	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	33					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTGTCTGGGACACATTTAC	0.448000													3	79					0.00909568	0.00939554	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75860944	75860944	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:75860944G>T	uc021zbv.1	-	19	4095	c.4060C>A	c.(4060-4062)Cat>Aat	p.H1354N	COL12A1_uc021zbw.1_Missense_Mutation_p.H190N|COL12A1_uc003phs.3_Missense_Mutation_p.H1354N|COL12A1_uc003pht.3_Missense_Mutation_p.H190N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1354	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTATGCATGGGTATCATCA	0.368000													10	59					6.31663e-08	6.98545e-08	1	1	0
DDX41	51428	broad.mit.edu	37	5	176943931	176943931	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr5:176943931G>T	uc003mho.3	-	0	37	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	DDX41_uc003mhn.3_5'Flank|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	6					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTCCGTTCGGGTTCCGACTCC	0.657000													38	118					1.30916e-28	1.57771e-28	1	1	0
ZCCHC10	54819	broad.mit.edu	37	5	132342536	132342536	+	Silent	SNP	T	T	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr5:132342536T>G	uc003kyh.3	-	2	195	c.184A>C	c.(184-186)Aga>Cga	p.R62R	ZCCHC10_uc003kyg.3_Silent_p.R40R|ZCCHC10_uc011cxl.2_Silent_p.R40R	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	62							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTATTTTCTTTTTCCTGTG	0.338000													12	96					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66436541	66436541	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:66436541C>G	uc003dmx.3	-	12	1667	c.1653G>C	c.(1651-1653)caG>caC	p.Q551H	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.Q171H|LRIG1_uc003dmw.3_Missense_Mutation_p.Q217H|LRIG1_uc010hnz.3_Missense_Mutation_p.Q267H|LRIG1_uc010hoa.3_Missense_Mutation_p.Q575H	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	551	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCCCGTCCTGCGCGTGGA	0.567000													43	238					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32573863	32573863	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:32573863T>A	uc001iwg.1	-	9	1777	c.1507A>T	c.(1507-1509)Aca>Tca	p.T503S	EPC1_uc001iwi.3_Missense_Mutation_p.T453S|EPC1_uc009xlt.2_Missense_Mutation_p.T453S|EPC1_uc001iwh.1_Missense_Mutation_p.T503S	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	503					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GAGGTATTTGTTTCTGAGGTA	0.423000													17	69					0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93911576	93911576	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:93911576C>G	uc001per.3	+	2	748	c.363C>G	c.(361-363)taC>taG	p.Y121*	PANX1_uc001peq.3_Nonsense_Mutation_p.Y121*	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	121					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTGTACCTGCCCCCGC	0.463000													33	107					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41107442	41107442	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:41107442C>T	uc001cfu.1	-	2	621	c.156G>A	c.(154-156)aaG>aaA	p.K52K	RIMS3_uc001cfv.1_Silent_p.K52K	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	52					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TGGCCACCATCTTGGCACCCA	0.662000													15	56					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350850	7350850	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:7350850A>T	uc002ghb.3	+	5	532	c.491A>T	c.(490-492)aAt>aTt	p.N164I	CHRNB1_uc010vty.2_Missense_Mutation_p.N92I|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	164					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GACTGGCAGAATTGCACTATG	0.567000													16	111					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20222171	20222171	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:20222171G>A	uc004czu.3	-	3	294	c.294C>T	c.(292-294)gcC>gcT	p.A98A	RPS6KA3_uc011mjk.2_Silent_p.A69A|RPS6KA3_uc004czv.3_Silent_p.A86A|RPS6KA3_uc011mjl.2_Silent_p.A70A|RPS6KA3_uc011mjm.2_Silent_p.A70A	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	98	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.Y97C(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ATACCTTCATGGCATAAAGCT	0.338000													3	70					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76602272	76602272	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:76602272G>C	uc003pih.1	+	27	3251	c.2972G>C	c.(2971-2973)cGa>cCa	p.R991P	MYO6_uc003pig.1_Missense_Mutation_p.R991P|MYO6_uc003pii.1_Missense_Mutation_p.R991P|MYO6_uc003pij.1_5'Flank	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	991	Glu-rich.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCTGGCCCGACAGAAGGAG	0.532000													12	62					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157390	145157390	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:145157390C>T	uc002tvu.3	-	7	1886	c.1364G>A	c.(1363-1365)aGt>aAt	p.S455N	ZEB2_uc010zbm.2_Missense_Mutation_p.S431N|ZEB2_uc002tvv.3_Missense_Mutation_p.S449N|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S484N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	455	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTTAAATTACTATTCATGGT	0.438000													10	66					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443624	35443624	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr20:35443624C>T	uc021wcx.1	-	4	2561	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	SOGA1_uc002xgd.1_Missense_Mutation_p.E503K	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	503										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCTGCTGTTCCTTGACAGAG	0.577000													13	51					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386013	7386013	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:7386013G>C	uc010cmj.1	+	1	825	c.710G>C	c.(709-711)gGc>gCc	p.G237A	ZBTB4_uc002ghd.4_Intron|POLR2A_uc002ghe.3_5'Flank|POLR2A_uc002ghf.4_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	Homo sapiens solute carrier family 35, member G6 (SLC35G6), mRNA.	237						integral to membrane											TCTGTGCCAGGCCTCTTTGTG	0.612000													19	128					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr22:22661208C>T	uc021wml.1	+	28		c.2219C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGAATCATGCAGAATTTGAA	0.408000													3	8					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010552	45010552	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr7:45010552G>T	uc003tmh.2	-	7	1097	c.953C>A	c.(952-954)cCc>cAc	p.P318H	MYO1G_uc003tmg.2_Missense_Mutation_p.P80H|MYO1G_uc010kym.2_Missense_Mutation_p.P203H|MYO1G_uc003tmi.1_Missense_Mutation_p.P230H|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.P80H	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	318	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGGTCCCGGGGTGTGGCCGT	0.657000													8	57					6.40141e-05	6.91647e-05	1	1	0
KRT84	3890	broad.mit.edu	37	12	52779218	52779218	+	Missense_Mutation	SNP	C	C	G	rs148258545		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:52779218C>G	uc001sah.1	-	0	200	c.152G>C	c.(151-153)gGt>gCt	p.G51A		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	51	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)		ACTCCGACTACCAAAGCTGCC	0.582000													24	110					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5781661	5781661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:5781661C>T	uc001iij.3	+	12	2153	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	510																	AAATAGTGTTCAACCAGAAAA	0.383000													3	78					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092953	1092953	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:1092953C>T	uc001lsx.1	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1607	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590N(2)|p.T1590I(2)|p.T1590T(2)|p.T1592M(1)|p.T1591I(1)|p.T1591M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.627000													5	52					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183732125	183732125	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:183732125C>G	uc003fmg.3	-	1	221	c.56G>C	c.(55-57)aGt>aCt	p.S19T	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.S19T|ABCC5_uc003fmh.3_Missense_Mutation_p.S19T|ABCC5_uc010hxm.3_Non-coding_Transcript|ABCC5_uc010hxn.3_Missense_Mutation_p.S19T|ABCC5_uc010hxo.3_Missense_Mutation_p.S19T|ABCC5_uc003fmi.3_Non-coding_Transcript	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	19						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCCTCACACTTCTATACCC	0.483000													24	94					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30219812	30219812	+	Splice_Site	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:30219812T>C	uc002hgr.3	-	5	396	c.313_splice	c.e5-1	p.D105_splice	UTP6_uc010wbw.1_Splice_Site_p.D105_splice	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	105					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTGAACATCGTCCTGCAAGAA	0.378000													7	47					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792844	44792844	+	Silent	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:44792844T>C	uc002oza.4	-	4	847	c.744A>G	c.(742-744)gtA>gtG	p.V248V	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.V244V	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TAAGAGGTGATACCTTTAGGG	0.378000													30	105					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52188171	52188171	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr12:52188171T>A	uc001ryw.3	+	25	4719	c.4541T>A	c.(4540-4542)aTc>aAc	p.I1514N	SCN8A_uc010snl.2_Missense_Mutation_p.I1473N	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1514					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATCCAAGGAATCGTCTTTGAT	0.428000													20	38					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028999	14028999	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:14028999G>T	uc002mxo.2	+	6	1164	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	CC2D1A_uc002mxn.2_Missense_Mutation_p.V188L|CC2D1A_uc002mxp.2_Missense_Mutation_p.V289L|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'Flank	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	289	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACTTCCGCGTGGCTAAGGT	0.632000													22	98					3.1745e-13	3.68398e-13	1	1	0
ZNF469	84627	broad.mit.edu	37	16	88497561	88497561	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:88497561C>T	uc002fku.2	+	1	3599	c.3599C>T	c.(3598-3600)cCt>cTt	p.P1200L		NM_001127464	NP_001120936	Q96JG9	ZN469_HUMAN	Homo sapiens zinc finger protein 469 (ZNF469), mRNA.	1200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GCCAAGGAGCCTGAAACTGCC	0.637000													20	50					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135269748	135269748	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr7:135269748C>A	uc003vsw.3	+	7	1242	c.1211C>A	c.(1210-1212)cCa>cAa	p.P404Q	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	404					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCACTTATGCCAATGAAGGTA	0.299000													3	20					0.00024832	0.000262271	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186024754	186024754	+	Silent	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:186024754T>A	uc001grq.1	+	44	7321	c.7092T>A	c.(7090-7092)gtT>gtA	p.V2364V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2364	Ig-like C2-type 21.				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						ATGTGTGTGTTGCTGTGAATG	0.418000													31	164					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2639399	2639399	+	Nonstop_Mutation	SNP	A	A	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr20:2639399A>C	uc002wgp.3	-	11	1165	c.1156T>G	c.(1156-1158)Tag>Gag	p.*386E	IDH3B_uc002wgq.3_Intron|IDH3B_uc002wgr.3_Nonstop_Mutation_p.*234E	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	AAAGGGCTCTAGCTCCCTTTA	0.552000													7	147					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213806	58213806	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:58213806T>C	uc010euf.3	-	2	751	c.511A>G	c.(511-513)Agc>Ggc	p.S171G	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		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;0.0257)		TAGCTTTTGCTAAAGGATTTC	0.433000													31	205					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43378432	43378432	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:43378432C>T	uc001zqq.3	-	1	154	c.88G>A	c.(88-90)Gat>Aat	p.D30N	UBR1_uc010udk.1_Missense_Mutation_p.D30N	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	30					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTTGCTGATCCCACCACTAA	0.358000													4	18					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2639397	2639397	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr20:2639397C>T	uc002wgp.3	-	11	1167	c.1158G>A	c.(1156-1158)taG>taA	p.*386*	IDH3B_uc002wgq.3_Intron|IDH3B_uc002wgr.3_Silent_p.*234*	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	ATAAAGGGCTCTAGCTCCCTT	0.547000													9	147					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102689211	102689211	+	Silent	SNP	T	T	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:102689211T>A	uc001yld.3	+	3	1809	c.1737T>A	c.(1735-1737)acT>acA	p.T579T	WDR20_uc001yle.3_Silent_p.T518T	NM_181291	NP_851808	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 1, mRNA.	0										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CAGGTGGAACTGTAGTGTAGC	0.602000													27	147					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97629854	97629854	+	Silent	SNP	A	A	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:97629854A>T	uc003ppb.3	-	15	2576	c.2310T>A	c.(2308-2310)atT>atA	p.I770I	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Silent_p.I730I	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	770					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAAAAGTTGAATAATTGATA	0.373000													7	38					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551617	150551617	+	Silent	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:150551617C>T	uc001euz.3	-	0	598	c.390G>A	c.(388-390)gaG>gaA	p.E130E	MCL1_uc010pch.2_Silent_p.E20E|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_Silent_p.E130E	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAGGCTCCGGCTCGTACCCGT	0.672000													3	15					0	0	1	0	0
PSMB4	5692	broad.mit.edu	37	1	151372469	151372469	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:151372469G>A	uc001eyc.1	+	1	176	c.153G>A	c.(151-153)gtG>gtA	p.V51V	PSMB4_uc010pda.2_Silent_p.V51V	NM_002796	NP_002787	P28070	PSB4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 4 (PSMB4), mRNA.	51					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|interspecies interaction between organisms|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCCATGGTGACCGGGACCT	0.577000													6	48					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469335	21469335	+	Silent	SNP	T	T	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr7:21469335T>C	uc003sva.3	+	2	733	c.552T>C	c.(550-552)acT>acC	p.T184T	SP4_uc003svb.3_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	184					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAATCCAACTAGTAGTTCAT	0.398000													11	47					0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220725	146220725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr8:146220725C>T	uc003zey.3	+	0	475	c.454C>T	c.(454-456)Cga>Tga	p.R152*	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		GGTGAAGCTGCGACACCTAGA	0.413000													10	62					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11270889	11270889	+	Silent	SNP	G	G	A			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:11270889G>A	uc001asd.3	-	23	3757	c.3636C>T	c.(3634-3636)ctC>ctT	p.L1212L		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1212					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTCTGCAGATGAGCACATCAT	0.403000													6	35					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94690404	94690404	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr4:94690404C>T	uc011cdt.2	+	14	2662	c.2404C>T	c.(2404-2406)Cac>Tac	p.H802Y	GRID2_uc011cdu.2_Missense_Mutation_p.H707Y	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	802					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)	CATCCTGAAGCACAAATGGTG	0.483000													17	106					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89478285	89478285	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:89478285A>C	uc003dqy.3	+	11	2329	c.2104A>C	c.(2104-2106)Atg>Ctg	p.M702L	EPHA3_uc021xbf.1_Missense_Mutation_p.M702L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	702	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CACAGAATACATGGAGAATGG	0.299000										TSP Lung(6;0.00050)			7	44					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54417869	54417876	+	Frame_Shift_Del	DEL	AAGAGAAG	AAGAGAAG	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:54417869_54417876delAAGAGAAG	uc001cwj.1	+	1	397_404	c.197_204delAAGAGAAG	c.(196-204)aaagagaagfs	p.K66fs	LRRC42_uc001cwk.1_Frame_Shift_Del_p.K66fs	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	66										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACTGCACGGAAAGAGAAGACTGATCATT	0.514													13	99	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	uc021ozo.1	+	0	163_186	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_uc001fax.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001faz.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001fay.2_Splice_Site_p.K60_splice	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													17	109	---	---	---	---					
OR6K6	128371	broad.mit.edu	37	1	158724869	158724869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:158724869delT	uc001fsw.1	+	0	264	c.264delT	c.(262-264)tatfs	p.Y88fs		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCCCTTTGTATTTCTTTATCA	0.463													16	136	---	---	---	---					
PPP1R15B	84919	broad.mit.edu	37	1	204379087	204379089	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr1:204379087_204379089delCTA	uc001hav.4	-	0	1856_1858	c.1451_1453delTAG	c.(1450-1455)gtagat>gat	p.V484del		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	484					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTATAAGGATCTACACTGCAGAA	0.448													12	55	---	---	---	---					
PKDCC	91461	broad.mit.edu	37	2	42281437	42281445	+	In_Frame_Del	DEL	AATGCCTAC	AATGCCTAC	-	rs55733961	byFrequency	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:42281437_42281445delAATGCCTAC	uc002rsg.3	+	2	1203_1211	c.1024_1032delAATGCCTAC	c.(1024-1032)aatgcctacdel	p.NAY342del		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	342	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	p.T343A(1)|p.K342K(1)		breast(2)|kidney(1)|lung(5)	8						GAACCTCTATAATGCCTACAGGTGACCTC	0.617													16	184	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48025884	48025885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:48025884_48025885insG	uc002rwd.4	+	3	914_915	c.762_763insG	c.(760-765)tctgagfs	p.S254fs	MSH6_uc002rwc.2_Frame_Shift_Ins_p.S254fs|MSH6_uc010fbj.3_5'UTR|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	254					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCAGATTCTGAGAGTGACAT	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	49	---	---	---	---					
UNC80	285175	broad.mit.edu	37	2	210841021	210841021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr2:210841021delG	uc010zjc.1	+	55	8648	c.8568delG	c.(8566-8568)cagfs	p.Q2856fs	UNC80_uc021vvx.1_Frame_Shift_Del_p.Q2851fs|UNC80_uc002vdl.1_Frame_Shift_Del_p.Q322fs|UNC80_uc010zjd.1_Frame_Shift_Del_p.Q302fs|UNC80_uc010zje.1_Frame_Shift_Del_p.Q302fs	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	2856						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTTTCATCCAGTGCAAGGTGT	0.542													8	121	---	---	---	---					
NDUFB5	4711	broad.mit.edu	37	3	179322628	179322629	+	Frame_Shift_Ins	INS	-	-	G	rs144873631	by1000genomes	TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr3:179322628_179322629insG	uc003fkc.3	+	0	54_55	c.25_26insG	c.(25-27)cggfs	p.R9fs	MRPL47_uc003fka.3_5'Flank|MRPL47_uc003fkb.3_5'Flank|MRPL47_uc003fjz.3_5'Flank|NDUFB5_uc021xhu.1_Frame_Shift_Ins_p.R9fs|NDUFB5_uc003fke.3_Frame_Shift_Ins_p.R9fs|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	9					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.R9P(2)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTTGTTGCGGCGGGTTTCGGTT	0.609													16	82	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr6:170871038_170871040delCAA	uc003qxu.3	+	2	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_uc011ehf.2_In_Frame_Del_p.Q75del|TBP_uc003qxt.3_In_Frame_Del_p.Q95del|TBP_uc011ehg.1_In_Frame_Del_p.Q95del	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													10	60	---	---	---	---					
HHEX	3087	broad.mit.edu	37	10	94450034	94450038	+	Frame_Shift_Del	DEL	GGGCC	GGGCC	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr10:94450034_94450038delGGGCC	uc001kid.3	+	0	354_358	c.291_295delGGGCC	c.(289-297)gggggccctfs	p.G97fs		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	97	Pro-rich.				B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GCGGCTTCGGGGGCCCTCTGTACCC	0.737													3	6	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1019461	1019462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:1019461_1019462insT	uc001lsw.2	-	29	3894_3895	c.3843_3844insA	c.(3841-3846)caagccfs	p.Q1281fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1281	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGATGTGGCTTGTGGGGTGA	0.639													7	435	---	---	---	---					
RNASEH2C	84153	broad.mit.edu	37	11	65487867	65487867	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr11:65487867delC	uc001ofn.3	-	1	374	c.194delG	c.(193-195)ggcfs	p.G65fs	RNASEH2C_uc001ofm.3_Non-coding_Transcript	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	Homo sapiens ribonuclease H2, subunit C (RNASEH2C), mRNA.	65					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						TAGACAGCGGCCCCGAAACGA	0.677													17	59	---	---	---	---					
RAB15	376267	broad.mit.edu	37	14	65418357	65418362	+	In_Frame_Del	DEL	GTATCT	GTATCT	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr14:65418357_65418362delGTATCT	uc021rut.1	-	2	286_291	c.205_210delAGATAC	c.(205-210)agatacdel	p.RY69del	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_In_Frame_Del_p.RY69del|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGATGGTCTGGTATCTCTCCTGCCCT	0.592													19	129	---	---	---	---					
SLC24A5	283652	broad.mit.edu	37	15	48431306	48431306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:48431306delT	uc001zwe.3	+	6	1085	c.1012delT	c.(1012-1014)tttfs	p.F338fs	SLC24A5_uc010bel.3_Frame_Shift_Del_p.F278fs|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	338					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGTGATAACCTTTTTCATGTC	0.308													7	69	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89872222	89872222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr15:89872222delG	uc002bns.4	-	3	1257	c.975delC	c.(973-975)cccfs	p.P325fs	POLG_uc002bnr.4_Frame_Shift_Del_p.P325fs	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	325					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTTGCTTTGTGGGGGGCTGGA	0.602								DNA polymerases (catalytic subunits)					19	132	---	---	---	---					
ANKS4B	257629	broad.mit.edu	37	16	21245180	21245180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr16:21245180delA	uc010bwp.1	+	0	165	c.122delA	c.(121-123)tacfs	p.Y41fs		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	41										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TTGGCAGCCTACCATGGGAAC	0.463													47	97	---	---	---	---					
CLTC	1213	broad.mit.edu	37	17	57760151	57760152	+	Frame_Shift_Del	DEL	AG	AG	-	rs111452880		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:57760151_57760152delAG	uc002ixr.1	+	22	4217_4218	c.3774_3775delAG	c.(3772-3777)aaagagfs	p.K1258fs	CLTC_uc002ixp.3_Frame_Shift_Del_p.K1254fs|CLTC_uc002ixq.1_Frame_Shift_Del_p.K1254fs	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1254	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAACATGGAAAGAGGTAATCTA	0.386			T	"""ALK, TFE3"""	"""ALCL, renal """								21	69	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78321624	78321624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr17:78321624delC	uc002jyh.2	+	29	9779	c.9636delC	c.(9634-9636)atcfs	p.I3212fs	RNF213_uc021uen.1_Frame_Shift_Del_p.I3163fs	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTTTCCCATCCCCCTCATTA	0.542													48	133	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397500	17397501	+	Frame_Shift_Del	DEL	TT	TT	-	rs10606406		TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chr19:17397500_17397501delTT	uc010xpn.1	+	7	2046_2047	c.1932_1933delTT	c.(1930-1935)tgtttgfs	p.C644fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtttgtgtgtgtg	0.530													4	5	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123190070	123190070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A4EM-01A-11D-A25F-10	TCGA-GL-A4EM-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7815397b-aa39-4b79-bcaa-6859a3f115f8	4bc53b4e-8334-46ff-aaab-4e5a0f30177b	g.chrX:123190070delA	uc004eua.3	+	13	1693	c.1289delA	c.(1288-1290)gaafs	p.E430fs	STAG2_uc004etz.4_Frame_Shift_Del_p.E430fs|STAG2_uc004eub.3_Frame_Shift_Del_p.E430fs|STAG2_uc004euc.3_Frame_Shift_Del_p.E430fs|STAG2_uc004eud.3_Frame_Shift_Del_p.E430fs|STAG2_uc004eue.3_Frame_Shift_Del_p.E430fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	430					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGCTGGAGAATTTCTCTAC	0.333													9	15	---	---	---	---					
