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
KRTAP4-6	81871	broad.mit.edu	37	17	39296291	39296291	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:39296291C>A	uc010cxk.2	-	0	449	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	146	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						agaggggcggcagcagctgga	0.672000														45			6		0.00116845	0.00120554	0.021553	1	0
TBPL2	387332	broad.mit.edu	37	14	55890942	55890942	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:55890942A>C	uc001xby.3	-	5	986	c.986T>G	c.(985-987)aTt>aGt	p.I329S	FBXO34_uc001xbv.3_Non-coding_Transcript	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	329					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CATTCTATAAATAAGACCAGG	0.348000														80			32		0	0	0.069456	0	0
KBTBD7	84078	broad.mit.edu	37	13	41767953	41767953	+	Silent	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:41767953G>A	uc001uxw.1	-	0	750	c.441C>T	c.(439-441)gcC>gcT	p.A147A	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	147							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCATGTCGGAGGCCGCGTACA	0.587000														65			25		0	0	0.099896	0	0
BC080605	0	broad.mit.edu	37	9	68413565	68413565	+	RNA	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:68413565G>A	uc004aex.3	+	0		c.120G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		AGCTCCCCCAGTGGCGCCGGA	0.597000														0			2		0	0	0.115264	0	0
BC128131	0	broad.mit.edu	37	19	23159778	23159778	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:23159778C>G	uc002nqz.1	-	1	195	c.169G>C	c.(169-171)Gat>Cat	p.D57H	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TTACACTCATCCACATTGGTA	0.338000														28			3		0	0	0.115264	0	0
SLC30A9	10463	broad.mit.edu	37	4	42037333	42037333	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr4:42037333T>G	uc003gwl.3	+	6	798	c.652T>G	c.(652-654)Ttc>Gtc	p.F218V	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	218					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	p.F218V(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACAGAGATTTCTTGGGAAA	0.299000														84			27		0	0	0.144211	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753888	140753888	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:140753888C>T	uc003ljy.2	+	0	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R80*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	80	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATCCGCGAAACGGCAG	0.577000														56			30		0	0	0.054565	0	0
HNRNPM	4670	broad.mit.edu	37	19	8551158	8551158	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:8551158G>A	uc010dwe.3	+	13	1926	c.1846G>A	c.(1846-1848)Ggt>Agt	p.G616S	HNRNPM_uc010xke.1_Missense_Mutation_p.G562S|HNRNPM_uc010dwd.3_Missense_Mutation_p.G577S|HNRNPM_uc002mka.3_Missense_Mutation_p.G481S|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	616	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGCGGTGGCGGTGCCAGCTT	0.682000														43			26		0	0	0.083992	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005874	57005874	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr12:57005874G>A	uc001slq.1	-	5	1492	c.1298C>T	c.(1297-1299)aCc>aTc	p.T433I	BAZ2A_uc001slp.1_Missense_Mutation_p.T431I|BAZ2A_uc009zow.1_Missense_Mutation_p.T401I	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	433					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCTGGGGAGGTTGTTGGCGA	0.542000														15			48		0	0	0.139131	0	0
FAM91A1	157769	broad.mit.edu	37	8	124787418	124787418	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr8:124787418C>A	uc003yqv.3	+	2	250	c.189C>A	c.(187-189)taC>taA	p.Y63*	FAM91A1_uc011lik.1_Nonsense_Mutation_p.Y63*|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	63										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACGCAGATACTATGAGGAAC	0.363000														36			27		1.08312e-15	1.28005e-15	0.144211	1	0
SHISA5	51246	broad.mit.edu	37	3	48510782	48510782	+	Silent	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:48510782C>T	uc003ctp.1	-	4	755	c.621G>A	c.(619-621)ccG>ccA	p.P207P	SHISA5_uc003ctm.2_Silent_p.P104P|SHISA5_uc011bbk.1_Missense_Mutation_p.G116S|SHISA5_uc011bbl.2_Silent_p.P105P|SHISA5_uc003cto.1_Silent_p.P176P|SHISA5_uc003cts.1_Silent_p.P176P|SHISA5_uc003ctt.3_Silent_p.P104P	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	207	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	WW domain binding|signal transducer activity			large_intestine(1)|lung(1)	2						CGTGGTAGGCCGGTGGGCCCA	0.657000														83			22		0	0	0.091800	0	0
FBXO28	23219	broad.mit.edu	37	1	224302059	224302059	+	Silent	SNP	C	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:224302059C>G	uc001hoh.2	+	0	269	c.228C>G	c.(226-228)ctC>ctG	p.L76L	FBXO28_uc009xef.2_Silent_p.L76L|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	Homo sapiens F-box protein 28 (FBXO28), transcript variant 1, mRNA.	76	F-box.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGAACATCCTCAGCTTTATGT	0.647000														20			2		0	0	0.115264	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134123	74134123	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:74134123C>A	uc002jqx.3	-	2	932	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	193					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G192R(1)		large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGCCAGAAGCCCCCCTTGCCT	0.607000														36			17		4.7546e-09	5.23812e-09	0.146539	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74880776	74880776	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr11:74880776C>A	uc001owb.3	+	5	1143	c.748C>A	c.(748-750)Cgc>Agc	p.R250S	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Missense_Mutation_p.R106S|SLCO2B1_uc010rrs.2_Missense_Mutation_p.R134S|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Missense_Mutation_p.R228S	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	250					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R250C(2)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCTCATGCTGCGCCTTTATGT	0.542000														91			36		1.04594e-18	1.259e-18	0.086207	1	0
CTCFL	140690	broad.mit.edu	37	20	56090837	56090837	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr20:56090837C>G	uc010giw.1	-	5	1224	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	CTCFL_uc010gix.1_Missense_Mutation_p.Q371H|CTCFL_uc002xym.2_Missense_Mutation_p.Q371H|CTCFL_uc010gjb.1_Missense_Mutation_p.Q371H|CTCFL_uc010gja.1_Missense_Mutation_p.Q371H|CTCFL_uc010gjc.1_Missense_Mutation_p.Q371H|CTCFL_uc010gjd.1_Missense_Mutation_p.Q371H|CTCFL_uc010gje.3_Missense_Mutation_p.Q371H|CTCFL_uc010gjg.3_Missense_Mutation_p.Q103H|CTCFL_uc010gjf.3_Missense_Mutation_p.Q166H|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.Q166H|CTCFL_uc010gjj.2_Missense_Mutation_p.Q371H|CTCFL_uc021wfe.1_Missense_Mutation_p.Q371H|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.Q103H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	371					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACTGGCAACACTGAAAGGGGC	0.473000														130			114		0	0	0.139131	0	0
ATAD2B	54454	broad.mit.edu	37	2	24107699	24107699	+	Silent	SNP	T	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:24107699T>G	uc002rek.4	-	5	1016	c.720A>C	c.(718-720)tcA>tcC	p.S240S	ATAD2B_uc002rei.4_Silent_p.S240S|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc010exx.2_Silent_p.S240S	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	240							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCTTAGTGACTTTCTTC	0.323000														11			2		0	0	0.115264	0	0
KRT27	342574	broad.mit.edu	37	17	38933310	38933310	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:38933310T>C	uc002hvg.3	-	7	1362	c.1321A>G	c.(1321-1323)Act>Gct	p.T441A		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	441	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTTCCACAGTGTGAACTCTG	0.413000														90			25		0	0	0.076483	0	0
SCN7A	6332	broad.mit.edu	37	2	167284362	167284362	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:167284362A>T	uc002udu.2	-	16	2919	c.2789T>A	c.(2788-2790)aTt>aAt	p.I930N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	930					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTCTCTACAATCTTGCAGCA	0.458000														29			14		0	0	0.119110	0	0
LAMB3	3914	broad.mit.edu	37	1	209800244	209800244	+	Missense_Mutation	SNP	C	T	T	rs144249951		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:209800244C>T	uc001hhg.3	-	11	1955	c.1565G>A	c.(1564-1566)cGg>cAg	p.R522Q	LAMB3_uc009xco.3_Missense_Mutation_p.R522Q|LAMB3_uc001hhh.3_Missense_Mutation_p.R522Q|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	522	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCCATAGGTCCGGTCTGGACA	0.672000														46			15		0	0	0.119110	0	0
SYDE2	84144	broad.mit.edu	37	1	85648788	85648788	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:85648788T>C	uc009wcm.3	-	2	1586	c.1537A>G	c.(1537-1539)Aat>Gat	p.N513D	SYDE2_uc001dku.4_Missense_Mutation_p.N513D	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	513					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATGACCAATTAATTGAACTG	0.383000														132			8		0	0	0.038147	0	0
TMEM88	92162	broad.mit.edu	37	17	7758402	7758402	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:7758402G>T	uc002giy.3	+	0	19	c.10G>T	c.(10-12)Gtc>Ttc	p.V4F	CYB5D1_uc002gjb.4_5'Flank	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN	Homo sapiens transmembrane protein 88 (TMEM88), mRNA.	4						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CATGGCGGATGTCCCCGGGGC	0.697000														25			9		4.68919e-08	5.07996e-08	0.069234	1	0
KCNH5	27133	broad.mit.edu	37	14	63447722	63447722	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:63447722G>T	uc001xfx.3	-	5	861	c.810C>A	c.(808-810)ttC>ttA	p.F270L	KCNH5_uc001xfy.3_Missense_Mutation_p.F270L|KCNH5_uc001xfz.1_Missense_Mutation_p.F212L|KCNH5_uc001xga.3_Missense_Mutation_p.F212L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGCCCCACGAAAGTCGTGT	0.433000														39			33		8.4185e-14	9.60005e-14	0.050027	1	0
PELP1	27043	broad.mit.edu	37	17	4575082	4575082	+	Silent	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:4575082C>T	uc002fyi.4	-	15	3430	c.3204G>A	c.(3202-3204)gaG>gaA	p.E1068E	PELP1_uc010vsf.2_Silent_p.E844E	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	1068	Glu-rich.|Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CATCCTCAGTCTCCTCTTCCA	0.602000														43			11		0	0	0.080935	0	0
RYR3	6263	broad.mit.edu	37	15	33603296	33603296	+	Splice_Site	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr15:33603296C>T	uc001zhi.3	+	1	121	c.51_splice	c.e1+1	p.T17_splice	RYR3_uc010bar.3_Splice_Site_p.T17_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	17					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCTGAGGACTGTGAGTCTC	0.756000														24			14		0	0	0.132662	0	0
C17orf90	339229	broad.mit.edu	37	17	79632531	79632531	+	Silent	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:79632531C>T	uc002kba.3	-	1	155	c.144G>A	c.(142-144)gcG>gcA	p.A48A	C17orf90_uc002kbb.3_3'UTR|CCDC137_uc002kbc.4_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA.	48										lung(2)|prostate(1)	3	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAGGGGCTTGCGCTCCGGGAT	0.647000														57			15		0	0	0.119110	0	0
SBF2	81846	broad.mit.edu	37	11	10011061	10011061	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr11:10011061C>T	uc001mib.2	-	12	1516	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	SBF2_uc001mif.3_Missense_Mutation_p.E216K	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	460					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AATAGTTGCTCAGCAAGTTCC	0.303000														38			12		0	0	0.119110	0	0
LRPPRC	10128	broad.mit.edu	37	2	44207047	44207047	+	Silent	SNP	A	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:44207047A>G	uc002rtr.2	-	2	445	c.387T>C	c.(385-387)agT>agC	p.S129S	LRPPRC_uc010yob.1_Silent_p.S29S|LRPPRC_uc010faw.1_Silent_p.S103S	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	129					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGAACCACAACTACGTAGTA	0.368000														47			21		0	0	0.062417	0	0
RPL10A	4736	broad.mit.edu	37	6	35436591	35436591	+	Silent	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr6:35436591C>T	uc003okp.1	+	1	55	c.21C>T	c.(19-21)cgC>cgT	p.R7R	RPL10A_uc003oks.1_5'UTR	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	7					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AAGTCTCTCGCGACACCCTGT	0.697000														14			4		0	0	0.009096	0	0
TDRD3	81550	broad.mit.edu	37	13	61103190	61103190	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:61103190G>A	uc001vhz.4	+	10	2340	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	TDRD3_uc010aef.2_Missense_Mutation_p.A343T|TDRD3_uc001via.3_Missense_Mutation_p.A518T|TDRD3_uc010aeg.3_Missense_Mutation_p.A611T|TDRD3_uc001vib.4_Missense_Mutation_p.A517T	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	518					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACCTGTCACAGCTGTACCCTG	0.398000														46			28		0	0	0.134883	0	0
WDR90	197335	broad.mit.edu	37	16	716291	716291	+	Missense_Mutation	SNP	C	A	A	rs143767432	by1000genomes	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:716291C>A	uc002cii.1	+	36	4735	c.4681C>A	c.(4681-4683)Cgt>Agt	p.R1561S	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R176S|WDR90_uc002cio.1_Missense_Mutation_p.R160S|WDR90_uc010bqx.1_Missense_Mutation_p.R160S|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1561										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACAACCTTCCGTGTGCTGAG	0.627000														58			24		1.66031e-10	1.86069e-10	0.091800	1	0
MEI1	150365	broad.mit.edu	37	22	42154472	42154472	+	Silent	SNP	A	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:42154472A>C	uc003baz.1	+	17	2080	c.2055A>C	c.(2053-2055)ggA>ggC	p.G685G	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.G53G|MEI1_uc003bbc.1_Silent_p.G53G|MEI1_uc010gym.1_Silent_p.G53G|MEI1_uc003bbd.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	685							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATGGAGGGAGCTGCTCGCC	0.582000														23			12		0	0	0.080935	0	0
MICAL3	57553	broad.mit.edu	37	22	18293564	18293564	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:18293564C>T	uc002zng.4	-	27	5814	c.5461G>A	c.(5461-5463)Gag>Aag	p.E1821K	MICAL3_uc011agl.2_Missense_Mutation_p.E1737K|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1821						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTTCCTCCTCCGTGTAGGTT	0.602000														54			18		0	0	0.049695	0	0
GTF3C1	2975	broad.mit.edu	37	16	27519910	27519910	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:27519910A>G	uc002dov.2	-	7	1233	c.1193T>C	c.(1192-1194)cTa>cCa	p.L398P	GTF3C1_uc002dou.3_Missense_Mutation_p.L398P	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	398						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTGCTTCTAGTTTTCCCAC	0.468000														65			28		0	0	0.144211	0	0
KPNA4	3840	broad.mit.edu	37	3	160249310	160249310	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:160249310T>C	uc003fdn.3	-	5	629	c.323A>G	c.(322-324)gAt>gGt	p.D108G		NM_002268	NP_002259	O00629	IMA4_HUMAN	Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA.	108					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TATTAAGTCATCAATTGGTGG	0.269000														67			22		0	0	0.125774	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891003	32891003	+	Silent	SNP	T	C	C	rs149883562	by1000genomes	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr16:32891003T>C	uc002edh.1	-	2	227	c.51A>G	c.(49-51)tcA>tcG	p.S17S	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		TGCCACTGGCTGAGTAGTAGT	0.622000														63			5		0	0	0.021553	0	0
BC101079	0	broad.mit.edu	37	15	102292835	102292835	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr15:102292835G>A	uc010usj.2	+	3	482	c.423G>A	c.(421-423)tgG>tgA	p.W141*	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		GACACTCGTGGAGGCGTCGGC	0.602000														12			3		0	0	0.021553	0	0
PER1	5187	broad.mit.edu	37	17	8047060	8047060	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:8047060T>G	uc002gkd.3	-	18	2834	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						23			6		0	0	0.029380	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138200108	138200108	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr6:138200108C>T	uc003qhr.3	+	6	1592	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	TNFAIP3_uc003qhs.3_Missense_Mutation_p.A509V|TNFAIP3_uc021zfv.1_Missense_Mutation_p.A137V	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	509	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.A506fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCAGCCACGCCCCAGACCAC	0.562000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									49			15		0	0	0.132662	0	0
BSPRY	54836	broad.mit.edu	37	9	116132384	116132384	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:116132384T>A	uc004bhg.4	+	5	1219	c.1171T>A	c.(1171-1173)Ttt>Att	p.F391I	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	391	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTTCCCAGTCTTTGCTGTGGC	0.597000														66			32		0	0	0.059317	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	A	A	rs113440919		TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr6:170871058G>A	uc003qxu.3	+	2	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_uc011ehf.2_Silent_p.Q58Q|TBP_uc003qxt.3_Silent_p.Q78Q|TBP_uc011ehg.1_Silent_p.Q78Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	78	Poly-Gln.				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			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)		agcagcagcagcagcagcagc	0.577000														35			9		0	0	0.047766	0	0
ZNF497	162968	broad.mit.edu	37	19	58867603	58867603	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr19:58867603C>A	uc002qsh.2	-	2	1682	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	A1BG_uc002qsd.4_5'Flank|A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Nonsense_Mutation_p.E467*|ZNF497_uc021vcw.1_Nonsense_Mutation_p.E467*|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TAGGGCCTCTCGCCCGTGTGC	0.692000														17			9		0.000274275	0.000287547	0.047766	1	0
PWWP2A	114825	broad.mit.edu	37	5	159520919	159520919	+	Silent	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:159520919G>A	uc011ded.2	-	1	795	c.738C>T	c.(736-738)gtC>gtT	p.V246V	PWWP2A_uc003lxv.4_Silent_p.V246V|PWWP2A_uc011dec.2_Silent_p.V246V	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	246	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGATGCGGGACAGGAGAAG	0.512000														71			33		0	0	0.144211	0	0
FANCM	57697	broad.mit.edu	37	14	45650876	45650876	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr14:45650876G>A	uc001wwd.4	+	15	4453	c.4354G>A	c.(4354-4356)Gct>Act	p.A1452T	FANCM_uc010anf.3_Missense_Mutation_p.A1426T|FANCM_uc001wwe.4_Missense_Mutation_p.A988T|FANCM_uc010ang.3_Missense_Mutation_p.A666T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1452					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCCACTTCATGCTGTCAAAAA	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					31			11		0	0	0.093190	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600585	80600585	+	Silent	SNP	G	A	A			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr5:80600585G>A	uc003khk.4	+	1	499	c.9G>A	c.(7-9)agG>agA	p.R3R	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Silent_p.R3R|ZCCHC9_uc003khj.3_Silent_p.R3R	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	3							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTATGACCAGGTGGGCCCGAG	0.423000														76			28		0	0	0.045705	0	0
MCAT	27349	broad.mit.edu	37	22	43533107	43533107	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:43533107C>T	uc003bdl.1	-	2	758	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	237					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCTGAAATCACCCTGCAATCT	0.532000											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		149			55		0	0	0.139131	0	0
SOX15	6665	broad.mit.edu	37	17	7492754	7492754	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:7492754T>C	uc002ghy.1	-	1	389	c.241A>G	c.(241-243)Aag>Gag	p.K81E	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Missense_Mutation_p.K81E	NM_006942	NP_008873	O60248	SOX15_HUMAN	Homo sapiens SRY (sex determining region Y)-box 15 (SOX15), mRNA.	81					chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|prostate(1)	2						CCCAGGCGCTTGGAGATCTCG	0.667000											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			19		0	0	0.055883	0	0
POLDIP3	84271	broad.mit.edu	37	22	43010826	43010826	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:43010826C>T	uc011apq.2	-	0	137	c.38G>A	c.(37-39)cGc>cAc	p.R13H	POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Missense_Mutation_p.R13H|POLDIP3_uc003bcv.3_Missense_Mutation_p.R13H|POLDIP3_uc010gza.3_Non-coding_Transcript|RNU12_uc021wqm.1_5'Flank	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	13					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CGCCGCCCCGCGCTTCCTGAT	0.667000														68			19		0	0	0.076483	0	0
TLCD1	116238	broad.mit.edu	37	17	27052951	27052951	+	Silent	SNP	G	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:27052951G>T	uc002hco.3	-	0	280	c.165C>A	c.(163-165)tcC>tcA	p.S55S	TLCD1_uc010waw.2_Intron|NEK8_uc002hcp.3_5'Flank	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA.	55	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CCGACACAATGGAGTGAGCGA	0.682000														42			23		1.77063e-15	2.0552e-15	0.108266	1	0
DDX52	11056	broad.mit.edu	37	17	36003445	36003445	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:36003445T>C	uc002hoi.2	-	0	49	c.5A>G	c.(4-6)gAc>gGc	p.D2G	DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'Flank	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	2						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATCGTGGACGTCCATCTTTAC	0.622000														57			14		0	0	0.146539	0	0
C9orf172	389813	broad.mit.edu	37	9	139739071	139739071	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:139739071G>C	uc011meh.2	+	0	205	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	69	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GACCCTGCCGGAGCCACCGCC	0.781000														4			2		0	0	0.115264	0	0
ERRFI1	54206	broad.mit.edu	37	1	8075357	8075374	+	Splice_Site	DEL	AGAATACATACCAAGTGG	-	-	rs147802351	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr1:8075357_8075374delAGAATACATACCAAGTGG	uc001aoz.3	-	3	451	c.202_splice	c.e3+1	p.G68_splice	ERRFI1_uc001apa.1_5'UTR	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	68					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGATTTTCAGAATACATACCAAGTGGTATTAGGCGC	0.404													---	70	---	---	12	---					
ACVR2A	92	broad.mit.edu	37	2	148684830	148684834	+	Frame_Shift_Del	DEL	AATCT	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr2:148684830_148684834delAATCT	uc002twg.3	+	11	1798_1802	c.1529_1533delAATCT	c.(1528-1533)gaatctfs	p.E510fs	ACVR2A_uc010zbn.2_Frame_Shift_Del_p.E402fs|ACVR2A_uc002twh.3_Frame_Shift_Del_p.E510fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	510					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.E510*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CCTCCCAAAGAATCTAGTCTATGAT	0.395													---	63	---	---	17	---					
SLC35A5	55032	broad.mit.edu	37	3	112282282	112282290	+	In_Frame_Del	DEL	TATGCTCCT	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr3:112282282_112282290delTATGCTCCT	uc003dze.3	+	1	277_285	c.32_40delTATGCTCCT	c.(31-42)atatgctccttg>atg	p.11_14ICSL>M	ATG3_uc003dzc.3_5'Flank|ATG3_uc003dzd.3_5'Flank|ATG3_uc010hqe.3_5'Flank	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	11						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CATCCTGTAATATGCTCCTTGTCAACAAT	0.378													---	72	---	---	19	---					
ADAM9	8754	broad.mit.edu	37	8	38880710	38880711	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr8:38880710_38880711insGG	uc003xmr.3	+	8	858_859	c.780_781insGG	c.(778-783)gttggafs	p.V260fs	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	260	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.G261A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTGTGCTAGTTGGACTGGAGAT	0.376													---	54	---	---	26	---					
SUSD1	64420	broad.mit.edu	37	9	114820886	114820886	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr9:114820886delC	uc010mui.3	-	13	1972	c.1931delG	c.(1930-1932)agcfs	p.S644fs	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Frame_Shift_Del_p.S644fs|SUSD1_uc010muj.3_Frame_Shift_Del_p.S644fs			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	644						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGCGTTGCTAAAGAAGGA	0.473													---	111	---	---	34	---					
COL17A1	1308	broad.mit.edu	37	10	105793785	105793785	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr10:105793785delG	uc001kxr.3	-	51	4243	c.4074delC	c.(4072-4074)ggcfs	p.G1358fs	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1358	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCCGCCATTGCCAGCATACA	0.572													---	82	---	---	17	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	5	---	---	5	---					
PRB1	5542	broad.mit.edu	37	12	11506449	11506450	+	In_Frame_Ins	INS	-	GGA	GGA			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr12:11506449_11506450insGGA	uc001qzw.1	-	3	621_622	c.584_585insTCC	c.(583-585)cca>ccTCCa	p.195_195P>PP	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	257	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGCTTTCCTGGAGGTGGGGG	0.604													---	354	---	---	7	---					
PCDH8	5100	broad.mit.edu	37	13	53421017	53421018	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:53421017_53421018insAT	uc001vhi.3	-	0	1758_1759	c.1554_1555insAT	c.(1552-1557)acggtgfs	p.T518fs	PCDH8_uc001vhj.3_Frame_Shift_Ins_p.T518fs	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	518	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGGCGGCCACCGTGGCCAGGT	0.723													---	5	---	---	4	---					
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr13:103524612delA	uc001vpu.2	+	20	4227	c.4105delA	c.(4105-4107)aaafs	p.K1369fs	BIVM-ERCC5_uc001vpw.3_Frame_Shift_Del_p.K915fs|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Frame_Shift_Del_p.K747fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1340					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CACCAAAGTGAAAAAAAAATT	0.428													---	66	---	---	7	---					
PIPOX	51268	broad.mit.edu	37	17	27380072	27380083	+	In_Frame_Del	DEL	GGTTGCCCAGGG	-	-	rs148024165	byFrequency	TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:27380072_27380083delGGTTGCCCAGGG	uc002hdr.1	+	2	724_735	c.398_409delGGTTGCCCAGGG	c.(397-411)cggttgcccagggga>cga	p.LPRG134del		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	134					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCAAATATTCGGTTGCCCAGGGGAGAAGTGGG	0.495													---	100	---	---	27	---					
C17orf70	80233	broad.mit.edu	37	17	79514289	79514299	+	Frame_Shift_Del	DEL	TGAGACTGTAG	-	-			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr17:79514289_79514299delTGAGACTGTAG	uc002kaq.3	-	4	1882_1892	c.1809_1819delCTACAGTCTCA	c.(1807-1821)ttctacagtctcaggfs	p.F603fs	C17orf70_uc002kao.1_Frame_Shift_Del_p.F252fs|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Frame_Shift_Del_p.F452fs	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	603					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.A607T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCACCTCCCTGAGACTGTAGAACAGCGTGC	0.682													---	62	---	---	30	---					
PDE9A	5152	broad.mit.edu	37	21	44185564	44185565	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr21:44185564_44185565insG	uc002zbm.3	+	14	1379_1380	c.1316_1317insG	c.(1315-1317)atgfs	p.M439fs	PDE9A_uc002zbn.3_Frame_Shift_Ins_p.M312fs|PDE9A_uc002zbo.3_Frame_Shift_Ins_p.M386fs|PDE9A_uc002zbp.3_Frame_Shift_Ins_p.M232fs|PDE9A_uc002zbq.3_Frame_Shift_Ins_p.M337fs|PDE9A_uc002zbs.3_Frame_Shift_Ins_p.M232fs|PDE9A_uc002zbr.3_Frame_Shift_Ins_p.M232fs|PDE9A_uc002zbt.3_Frame_Shift_Ins_p.M311fs|PDE9A_uc002zbu.3_Frame_Shift_Ins_p.M305fs|PDE9A_uc002zbv.3_Frame_Shift_Ins_p.M279fs|PDE9A_uc002zbw.3_Frame_Shift_Ins_p.M222fs|PDE9A_uc002zbx.3_Frame_Shift_Ins_p.M379fs|PDE9A_uc002zby.3_Frame_Shift_Ins_p.M222fs|PDE9A_uc002zbz.3_Frame_Shift_Ins_p.M331fs|PDE9A_uc002zca.3_Frame_Shift_Ins_p.M398fs|PDE9A_uc002zcb.3_Frame_Shift_Ins_p.M413fs|PDE9A_uc002zcc.3_Frame_Shift_Ins_p.M338fs|PDE9A_uc002zcd.3_Frame_Shift_Ins_p.M353fs|PDE9A_uc002zce.3_Frame_Shift_Ins_p.M372fs|PDE9A_uc002zcf.3_Frame_Shift_Ins_p.M232fs|PDE9A_uc002zcg.3_Frame_Shift_Ins_p.M232fs|PDE9A_uc010gpf.1_Frame_Shift_Ins_p.M232fs	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	439	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AAAGAGAAAATGGAGAATTTTG	0.480													---	25	---	---	16	---					
SEC14L2	23541	broad.mit.edu	37	22	30805476	30805477	+	Splice_Site	INS	-	T	T			TCGA-DW-7841-01A-11D-2136-08	TCGA-DW-7841-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa4db950-5986-4268-9554-23eeace63f53	77e5cfbb-e4ce-45f5-98d2-46ee8a5598ea	g.chr22:30805476_30805477insT	uc003ahr.3	+	7	756	c.580_splice	c.e7+1	p.A194_splice	SEC14L2_uc003ahq.3_Splice_Site_p.A194_splice|SEC14L2_uc011aky.2_Splice_Site_p.A111_splice|SEC14L2_uc011akx.2_Splice_Site_p.A140_splice|SEC14L2_uc003ahs.3_Splice_Site_p.A120_splice|SEC14L2_uc003aht.3_Splice_Site|SEC14L2_uc003ahu.3_Splice_Site_p.A18_splice|SEC14L2_uc010gvv.3_Splice_Site|SEC14L2_uc003ahv.1_Splice_Site_p.A18_splice|SEC14L2_uc010gvx.1_Splice_Site|SEC14L2_uc010gvy.1_Splice_Site_p.A18_splice	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	194	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GTTGTTAAAGGTAAGTTGGGAA	0.436													---	88	---	---	33	---					
