Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAT3	120114	broad.mit.edu	37	11	92590392	92590392	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:92590392C>T	uc001pdj.4	+	18	11395	c.11378C>T	c.(11377-11379)cCg>cTg	p.P3793L	FAT3_uc001pdi.4_Missense_Mutation_p.P233L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3793					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACTGTGTCCGGGGTCCAAC	0.527000										TCGA Ovarian(4;0.039)				48			44		0	0	0.014410	0	0
ARF3	377	broad.mit.edu	37	12	49333834	49333834	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:49333834C>G	uc001rsr.2	-	2	458	c.205G>C	c.(205-207)Ggt>Cgt	p.G69R	ARF3_uc010smc.1_Intron	NM_001659	NP_001650	P61204	ARF3_HUMAN	Homo sapiens ADP-ribosylation factor 3 (ARF3), mRNA.	69					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCCTGGCCACCCACATCCCAC	0.502000														50			34		0	0	0.004878	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833643	61833643	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr20:61833643C>T	uc002yeh.3	-	3	1943	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	YTHDF1_uc011aaq.2_Missense_Mutation_p.R500H	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	550										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCTCACCTTGCGCACCACCTC	0.567000														108			5		0	0	0.001168	0	0
KRTAP2-1	81872	broad.mit.edu	37	17	39203187	39203187	+	Silent	SNP	G	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:39203187G>A	uc010cxi.3	-	0	382	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001123387	NP_001116859	Q9BYU5	KRA21_HUMAN	Homo sapiens keratin associated protein 2-1 (KRTAP2-1), mRNA.	111	10 X 5 AA repeats of C-C-[CDPQRWG]- [APRS]-[CIPSTVD].					keratin filament											GGCCGCAGGGGGGCCGGCAGC	0.716000														6			3		0	0	0.004672	0	0
SLBP	7884	broad.mit.edu	37	4	1701385	1701385	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr4:1701385C>G	uc003gdi.1	-	4	500	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	SLBP_uc003gdk.1_Missense_Mutation_p.E90Q|SLBP_uc011bvf.1_Missense_Mutation_p.E94Q|SLBP_uc003gdl.1_Missense_Mutation_p.E46Q	NM_006527	NP_006518	Q14493	SLBP_HUMAN	Homo sapiens stem-loop binding protein (SLBP), mRNA.	129	RNA-binding.				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCATCTGTCTCAAAGTCAGCC	0.398000														55			50		0	0	0.014410	0	0
SLC38A6	145389	broad.mit.edu	37	14	61449295	61449295	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr14:61449295A>C	uc001xfh.2	+	1	339	c.175A>C	c.(175-177)Atg>Ctg	p.M59L	SLC38A6_uc001xfg.2_Missense_Mutation_p.M59L|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Missense_Mutation_p.M36L|TRMT5_uc001xff.4_5'Flank	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	59					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GAATGCCATCATGGGAAGTGG	0.368000														48			44		0	0	0.009718	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175477	143175477	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:143175477A>T	uc003wdc.1	+	0	512	c.512A>T	c.(511-513)aAg>aTg	p.K171M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	171					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATGACCTACAAGTGGAATACA	0.358000														25			18		0	0	0.006122	0	0
ATF3	467	broad.mit.edu	37	1	212791490	212791490	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:212791490A>G	uc001hjf.3	+	2	416	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	ATF3_uc001hjj.3_Missense_Mutation_p.R88G|ATF3_uc021piu.1_Missense_Mutation_p.R31G|ATF3_uc001hji.3_Missense_Mutation_p.R88G|ATF3_uc021pit.1_Missense_Mutation_p.R31G|ATF3_uc001hjh.3_Missense_Mutation_p.R88G|ATF3_uc021piv.1_Missense_Mutation_p.R59G	NM_001030287	NP_001025458	P18847	ATF3_HUMAN	Homo sapiens activating transcription factor 3 (ATF3), transcript variant 3, mRNA.	88						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		AGAAGATGAAAGGAAAAAGAG	0.438000														38			43		0	0	0.007835	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352945	41352945	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:41352945C>T	uc002opl.4	-	4	687	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2A6_uc010ehe.1_Missense_Mutation_p.M18I|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	222					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)	CCGAAGAGAACATCTCATAGA	0.537000														63			19		0	0	0.002780	0	0
RGAG4	340526	broad.mit.edu	37	X	71351213	71351213	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:71351213T>C	uc010nlh.2	-	0	178	c.178A>G	c.(178-180)Ata>Gta	p.I60V	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.I60V|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	60										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGGGCACTATGGGTACTGGC	0.617000														58			44		0	0	0.014410	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604361	13604361	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr4:13604361C>T	uc003gmz.1	-	9	4280	c.4163G>A	c.(4162-4164)aGt>aAt	p.S1388N	BOD1L1_uc010idr.1_Missense_Mutation_p.S725N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1388							DNA binding										CGTTAACTTACTTCCAAGAGG	0.418000														60			57		0	0	0.014410	0	0
NUDT10	170685	broad.mit.edu	37	X	51075840	51075840	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:51075840C>T	uc004dph.3	+	1	243	c.23C>T	c.(22-24)aCa>aTa	p.T8I	NUDT10_uc004dpi.4_Missense_Mutation_p.T8I	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	8						cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.T8T(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					CCCAACCAGACACGGACCTAC	0.677000														45			8		0	0	0.010729	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	A	A	rs2781608	by1000genomes	TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:17272075G>A	uc001azt.2	+	14	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_uc009voz.1_Missense_Mutation_p.A467T|CROCC_uc001azu.2_Missense_Mutation_p.A7T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(22)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000														17			3		0	0	0.009096	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36864	36864	+	RNA	SNP	T	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrGL000241.1:36864T>A	uc011mgv.2	-	0		c.12A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GCGGGGAGGATCAGAAGTGGA	0.582000														6			4		0	0	0.000602	0	0
NRG3	10718	broad.mit.edu	37	10	83635770	83635770	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr10:83635770C>A	uc021pvc.1	+	0	701	c.674C>A	c.(673-675)cCt>cAt	p.P225H	NRG3_uc010qlz.1_Missense_Mutation_p.P225H|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P225H|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	225	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCTCCTGGCCTACTGCGGCA	0.617000														24			23		7.92952e-12	8.78347e-12	0.003954	1	0
B3GNT1	11041	broad.mit.edu	37	11	66114291	66114291	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:66114291T>A	uc001ohr.3	-	0	871	c.726A>T	c.(724-726)gaA>gaT	p.E242D	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	242					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.R241L(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GATCCAGCATTTCCCGCAGGC	0.612000														69			68		0	0	0.014410	0	0
DMPK	1760	broad.mit.edu	37	19	46281110	46281110	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:46281110C>T	uc002pdi.1	-	7	961	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	DMPK_uc010xxs.1_Missense_Mutation_p.G144S|DMPK_uc002pdd.1_Missense_Mutation_p.G243S|DMPK_uc002pde.1_Missense_Mutation_p.G243S|DMPK_uc002pdg.1_Missense_Mutation_p.G233S|DMPK_uc002pdf.1_Missense_Mutation_p.G233S|DMPK_uc002pdh.1_Missense_Mutation_p.G233S|DMPK_uc010xxt.1_Missense_Mutation_p.G233S	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	243	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTGGGGTGCCCACAGCCACC	0.692000														48			37		0	0	0.006230	0	0
ADAD2	161931	broad.mit.edu	37	16	84228944	84228944	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr16:84228944T>A	uc002fhq.2	+	5	1136	c.1022T>A	c.(1021-1023)cTg>cAg	p.L341Q	ADAD2_uc002fhr.2_Missense_Mutation_p.L259Q|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	259	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ATCTACAAGCTGGTGGCTCTG	0.677000														15			9		0	0	0.006214	0	0
EPS8L2	64787	broad.mit.edu	37	11	723296	723296	+	Nonsense_Mutation	SNP	C	A	A	rs142895363	by1000genomes	TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:723296C>A	uc001lqt.3	+	14	1644	c.1397C>A	c.(1396-1398)tCa>tAa	p.S466*	EPS8L2_uc001lqu.3_Nonsense_Mutation_p.S466*|EPS8L2_uc010qwk.2_Nonsense_Mutation_p.S482*|EPS8L2_uc001lqv.3_Nonsense_Mutation_p.S421*|EPS8L2_uc001lqw.3_Nonsense_Mutation_p.S78*|EPS8L2_uc001lqx.3_Nonsense_Mutation_p.S78*|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	466						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCACTTCAGAGCCCACC	0.602000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			44		7.77372e-23	8.74544e-23	0.014410	1	0
ERBB2	2064	broad.mit.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	C	C	rs121913470		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:37880220T>C	uc002hso.3	+	18	2502	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	ERBB2_uc010cwa.3_Missense_Mutation_p.L740S|ERBB2_uc002hsm.3_Missense_Mutation_p.L725S|ERBB2_uc002hsp.3_Missense_Mutation_p.L558S|ERBB2_uc010cwb.3_Missense_Mutation_p.L755S|ERBB2_uc010wek.2_Missense_Mutation_p.L479S|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	755	Protein kinase.		L -> P (in a lung adenocarcinoma sample; somatic mutation).		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L755S(21)|p.L755P(4)|p.L755_S760>A(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCAAAGTGTTGAGGGAAAAC	0.532000	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				22			36		0	0	0.007835	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														181			8		0	0	0.006214	0	0
CUBN	8029	broad.mit.edu	37	10	16943441	16943441	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr10:16943441T>C	uc001ioo.3	-	51	8132	c.8080A>G	c.(8080-8082)Ata>Gta	p.I2694V	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.I50V	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2694	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTCACCTATCTGTATTCCG	0.443000														38			47		0	0	0.014410	0	0
NUDT11	55190	broad.mit.edu	37	X	51239274	51239274	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:51239274G>A	uc010njt.3	-	0	186	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	8						cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					GTAGGTCCGCGTCTGGTTGGG	0.682000										HNSCC(48;0.14)				11			12		0	0	0.010729	0	0
NLRP2	55655	broad.mit.edu	37	19	55494859	55494859	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:55494859C>T	uc021vbq.1	+	5	1904	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	NLRP2_uc010yfp.2_Missense_Mutation_p.T575M|NLRP2_uc002qij.3_Missense_Mutation_p.T598M|NLRP2_uc010esp.3_Missense_Mutation_p.T576M|NLRP2_uc010esn.3_Missense_Mutation_p.T574M|NLRP2_uc010eso.3_Missense_Mutation_p.T595M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	598					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGACATTCAACGGTGACAGAC	0.537000														41			33		0	0	0.004289	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26235509	26235509	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:26235509C>T	uc003sxr.4	-	7	931	c.715G>A	c.(715-717)Gga>Aga	p.G239R	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.G227R	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	239	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCCCAAATCCACGTCCACTG	0.378000			T	ETV1	prostate									34			26		0	0	0.009535	0	0
MED13L	23389	broad.mit.edu	37	12	116429670	116429670	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:116429670G>C	uc001tvw.3	-	16	3144	c.3089C>G	c.(3088-3090)gCc>gGc	p.A1030G		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1030					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTATTGCTGGCTGGGGCAGC	0.572000														37			31		0	0	0.008361	0	0
XRN1	54464	broad.mit.edu	37	3	142141567	142141567	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr3:142141567A>T	uc003eus.3	-	7	891	c.824T>A	c.(823-825)aTt>aAt	p.I275N	XRN1_uc003eut.3_Missense_Mutation_p.I275N|XRN1_uc003euu.3_Missense_Mutation_p.I275N|XRN1_uc003euv.1_Missense_Mutation_p.I136N|XRN1_uc003euw.3_Missense_Mutation_p.I275N|XRN1_uc011bnh.2_Missense_Mutation_p.I65N	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	275					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TATCCTTTCAATATCATATTT	0.323000														34			26		0	0	0.003954	0	0
GRIA1	2890	broad.mit.edu	37	5	153078528	153078528	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr5:153078528C>G	uc011dcy.2	+	9	1404	c.1377C>G	c.(1375-1377)caC>caG	p.H459Q	GRIA1_uc003lva.4_Missense_Mutation_p.H449Q|GRIA1_uc003luy.4_Missense_Mutation_p.H449Q|GRIA1_uc003luz.4_Missense_Mutation_p.H354Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.H369Q|GRIA1_uc011dcx.2_Missense_Mutation_p.H380Q|GRIA1_uc011dcz.2_Missense_Mutation_p.H459Q|GRIA1_uc010jia.1_Missense_Mutation_p.H429Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	449					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGCCAAGCACGTGGGCTACT	0.537000														40			31		0	0	0.009535	0	0
DENND4C	55667	broad.mit.edu	37	9	19316719	19316719	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr9:19316719A>T	uc003znq.3	+	7	1061	c.981A>T	c.(979-981)caA>caT	p.Q327H	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	327	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGAAATTCAAGAGGCATTTT	0.403000														98			82		0	0	0.014410	0	0
SNX5	27131	broad.mit.edu	37	20	17933351	17933351	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr20:17933351C>G	uc002wqc.3	-	4	479	c.393G>C	c.(391-393)gaG>gaC	p.E131D	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Missense_Mutation_p.E131D|SNX5_uc002wqe.3_Missense_Mutation_p.E26D|SNX5_uc010zrt.1_Missense_Mutation_p.E131D	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	131	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CAGCGAGATACTCACTGAAAA	0.453000														17			14		0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141731533	141731533	+	Silent	SNP	T	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:141731533T>G	uc003vwy.3	+	12	1578	c.1524T>G	c.(1522-1524)gtT>gtG	p.V508V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	508	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGTGCTGTTTGGTGGACAA	0.363000														62			59		0	0	0.014410	0	0
ALMS1	7840	broad.mit.edu	37	2	73827935	73827935	+	Silent	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr2:73827935T>C	uc002sje.1	+	17	11907	c.11796T>C	c.(11794-11796)cgT>cgC	p.R3932R	ALMS1_uc002sjf.1_Silent_p.R3890R|ALMS1_uc002sjh.1_Silent_p.R3320R	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3932					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAAAAACGTGAAGAGAAAA	0.408000														23			23		0	0	0.004656	0	0
ERBB2	2064	broad.mit.edu	37	17	37880219	37880219	+	Silent	SNP	T	C	C	rs121913469		TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:37880219T>C	uc002hso.3	+	18	2501	c.2263T>C	c.(2263-2265)Ttg>Ctg	p.L755L	ERBB2_uc010cwa.3_Silent_p.L740L|ERBB2_uc002hsm.3_Silent_p.L725L|ERBB2_uc002hsp.3_Silent_p.L558L|ERBB2_uc010cwb.3_Silent_p.L755L|ERBB2_uc010wek.2_Silent_p.L479L|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	755	Protein kinase.		L -> P (in a lung adenocarcinoma sample; somatic mutation).		cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L755S(11)|p.L755P(4)|p.L755_S760>A(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CATCAAAGTGTTGAGGGAAAA	0.532000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				22			39		0	0	0.010771	0	0
PICALM	8301	broad.mit.edu	37	11	85722090	85722090	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:85722090A>G	uc001pbm.3	-	6	1065	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L	PICALM_uc001pbl.3_Missense_Mutation_p.F250L|PICALM_uc001pbn.3_Missense_Mutation_p.F250L|PICALM_uc010rtl.2_Missense_Mutation_p.F199L	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	250					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ACTTTGAGGAACTCTGAGATT	0.343000			T	"""MLLT10, MLL"""	"""TALL, AML, """									9			13		0	0	0.004990	0	0
CR1L	1379	broad.mit.edu	37	1	207818592	207818592	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:207818592T>G	uc001hga.4	+	0	135	c.14T>G	c.(13-15)gTc>gGc	p.V5G	CR1L_uc001hfz.2_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	5						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCCTCCCGTCCGTCTCGAG	0.657000														54			52		0	0	0.014410	0	0
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr6:135784313T>C	uc003qgi.3	-	7	1265	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_uc003qgh.3_Missense_Mutation_p.Q294R|AHI1_uc003qgj.3_Missense_Mutation_p.Q294R|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.Q294R	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	294						adherens junction|cilium|microtubule basal body		p.Q294R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313000														55			3		0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028486	37028486	+	Missense_Mutation	SNP	C	T	T	rs142735792	byFrequency	TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrX:37028486C>T	uc004ddl.2	+	0	2055	c.2003C>T	c.(2002-2004)cCg>cTg	p.P668L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	668								p.P668Q(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCCCCCGGAGCCCCCC	0.642000														79			59		0	0	0.014410	0	0
SREBF1	6720	broad.mit.edu	37	17	17721579	17721579	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr17:17721579T>C	uc002gru.2	-	5	1372	c.1178A>G	c.(1177-1179)aAa>aGa	p.K393R	SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.K139R|SREBF1_uc002grs.2_Missense_Mutation_p.K369R|SREBF1_uc002grt.2_Missense_Mutation_p.K423R|SREBF1_uc010cpp.1_Missense_Mutation_p.K369R|SREBF1_uc010cpq.1_Missense_Mutation_p.K393R	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	393	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTCACTGCTTTTGTGGACAGC	0.567000														58			23		0	0	0.003954	0	0
TJP1	7082	broad.mit.edu	37	15	30033565	30033565	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr15:30033565G>A	uc001zcr.3	-	9	1701	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	TJP1_uc010azl.3_Missense_Mutation_p.P397L|TJP1_uc001zcq.3_Missense_Mutation_p.P413L|TJP1_uc001zcs.3_Missense_Mutation_p.P409L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	409				QPDVDLPVSPSDGVLPNSTHEDGI -> NQMWIYLSVHLMV SYLIQLMKMGF (in Ref. 1; AAA02891).	cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGTTGAATTAGGTAGGACACC	0.343000														57			3		0	0	0.000602	0	0
TRIM51	84767	broad.mit.edu	37	11	55658774	55658774	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr11:55658774A>G	uc010rip.2	+	6	1117	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	TRIM51_uc010riq.2_Missense_Mutation_p.Y199C	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	342	B30.2/SPRY.					intracellular	zinc ion binding										GGCAAATATTATTGGGAGGTT	0.423000														65			50		0	0	0.014410	0	0
SPAG16	79582	broad.mit.edu	37	2	214161997	214161997	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr2:214161997C>G	uc002veq.3	+	2	287	c.195C>G	c.(193-195)gaC>gaG	p.D65E	SPAG16_uc010fuz.2_Missense_Mutation_p.T2R|SPAG16_uc002ver.3_Missense_Mutation_p.D11E|SPAG16_uc010zjk.2_Missense_Mutation_p.T11R|SPAG16_uc002veo.3_Missense_Mutation_p.D65E|SPAG16_uc002ves.1_Missense_Mutation_p.D34E	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	65					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TACCAGATGACAATTTTAGCA	0.358000														51			34		0	0	0.013726	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000														5			3		0	0	0.009096	0	0
MBD6	114785	broad.mit.edu	37	12	57920964	57920964	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:57920964C>T	uc001soj.1	+	6	2260	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V	MBD6_uc001sok.1_Missense_Mutation_p.A546V|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	679	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTAAATTCTGCGCTGCTGGCT	0.597000														5			12		0	0	0.010729	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384830	41384830	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr19:41384830C>T	uc002opm.3	-	4	1208	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2A7_uc002opo.3_Missense_Mutation_p.M222I|CYP2A7_uc002opn.3_Missense_Mutation_p.M171I	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	222						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGAAGAGAACATCTCATAGA	0.532000														40			7		0	0	0.004482	0	0
C1orf35	79169	broad.mit.edu	37	1	228290925	228290925	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:228290925A>C	uc001hrx.3	-	0	98	c.4T>G	c.(4-6)Ttc>Gtc	p.F2V	C1orf35_uc009xew.3_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA.	2										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CTGGAGCCGAACATGGCGCCG	0.682000														17			27		0	0	0.004656	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27787953	27787953	+	Silent	SNP	T	C	C			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr12:27787953T>C	uc001ric.2	+	3	552	c.175T>C	c.(175-177)Tta>Cta	p.L59L	PPFIBP1_uc001rhy.1_Silent_p.L59L|PPFIBP1_uc001rhz.2_Silent_p.L59L|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.2_Silent_p.L59L|PPFIBP1_uc001ria.3_Silent_p.L59L|PPFIBP1_uc001rid.2_Intron	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	59					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCGTGGATTGTTAGAGATGAT	0.458000														49			41		0	0	0.008740	0	0
STARD13	90627	broad.mit.edu	37	13	33700266	33700266	+	Missense_Mutation	SNP	T	G	G	rs143789881	byFrequency	TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr13:33700266T>G	uc001uuw.3	-	6	2160	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	STARD13_uc001uuu.3_Missense_Mutation_p.Q670H|STARD13_uc001uuv.3_Missense_Mutation_p.Q560H|STARD13_uc001uux.3_Missense_Mutation_p.Q643H|STARD13_uc021rhz.1_Missense_Mutation_p.Q670H|STARD13_uc021ria.1_Missense_Mutation_p.Q560H	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	678	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGAATACTTTGAGGCAGGG	0.542000														87			84		0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103400626	103400626	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:103400626delG	uc001dum.3	-	44	3836	c.3518delC	c.(3517-3519)cctfs	p.P1173fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.P357fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.P1161fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.P1122fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.P1045fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1161	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCAATTCCAGGGGCACCAAC	0.448													---	30	---	---	18	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr1:248801602_248801603insCA	uc001ies.1	-	0	957_958	c.957_958insTG	c.(955-960)gtgatcfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													---	4	---	---	2	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr2:98427639delT	uc002syh.4	-	17	2149	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													---	307	---	---	7	---					
SAMD9	54809	broad.mit.edu	37	7	92734994	92734994	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr7:92734994delT	uc003umf.3	-	2	687	c.417delA	c.(415-417)aaafs	p.K139fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.K139fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.K139fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	139						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCTCAACTTTTAGTGACT	0.358													---	64	---	---	50	---					
LRRC14	9684	broad.mit.edu	37	8	145746824	145746825	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr8:145746824_145746825delAT	uc003zdk.2	+	3	1618_1619	c.1444_1445delAT	c.(1444-1446)atcfs	p.I482fs	LRRC14_uc003zdl.2_Frame_Shift_Del_p.I482fs	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	482										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GACCACGGACATCTACGGGCGA	0.589													---	24	---	---	23	---					
HOMER2	9455	broad.mit.edu	37	15	83518619	83518620	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr15:83518619_83518620insT	uc002bjg.3	-	8	1101_1102	c.912_913insA	c.(910-915)aaagtgfs	p.K304fs	HOMER2_uc002bjh.3_Frame_Shift_Ins_p.K293fs	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	304					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.R304K(1)		cervix(1)|endometrium(2)|lung(6)	9						AAGGAACGCACTTTGTCTTCCA	0.505											OREG0023389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	62	---	---	53	---					
TNRC6A	27327	broad.mit.edu	37	16	24802526	24802526	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr16:24802526delG	uc002dmm.3	+	5	2677	c.2563delG	c.(2563-2565)gatfs	p.D855fs	TNRC6A_uc010bxs.3_Frame_Shift_Del_p.D602fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.D602fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.D602fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.D602fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	855	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGCCAGTGATAACTGGGG	0.478													---	40	---	---	28	---					
WFDC10A	140832	broad.mit.edu	37	20	44258534	44258534	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DW-7839-01A-11D-2136-08	TCGA-DW-7839-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d305b7d5-cbb1-41bf-8b2b-1cc2ba653c20	59a27c03-2a9d-4978-81e0-94d09e0e5d43	g.chr20:44258534delA	uc002xoz.3	+	0	150	c.82delA	c.(82-84)aggfs	p.R28fs	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	28						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TGACAAGAAGAGGATGCAGAG	0.577											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	29	---	---	20	---					
