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
MYRIP	25924	broad.mit.edu	37	3	40211564	40211564	+	Missense_Mutation	SNP	C	T	T	rs142520074		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:40211564C>T	uc003cka.3	+	7	988	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.R285C|MYRIP_uc010hhw.3_Missense_Mutation_p.R196C|MYRIP_uc011ayz.2_Missense_Mutation_p.R98C	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	285	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGGAGGCTACCGTGCTCCCGC	0.587000														68			14		0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101170058	101170058	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:101170058C>T	uc002bwk.3	+	4	1397	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ASB7_uc002bwj.3_Missense_Mutation_p.R210C	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	210					intracellular signal transduction			p.R210C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAACTTGGGTCGCTTAGAAGA	0.473000														205			5		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32954825	32954825	+	Missense_Mutation	SNP	A	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:32954825A>T	uc001mty.3	+	3	1901	c.1634A>T	c.(1633-1635)tAt>tTt	p.Y545F	QSER1_uc001mtz.1_Missense_Mutation_p.Y306F|QSER1_uc001mua.3_Missense_Mutation_p.Y50F	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	545										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCAAAGTCTTATGCTGAAAGA	0.413000														64			47		0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13638047	13638047	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:13638047A>G	uc003nbb.3	-	9	1725	c.1666T>C	c.(1666-1668)Ttc>Ctc	p.F556L	RANBP9_uc003nba.3_Missense_Mutation_p.F215L	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	556					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TACCTGGTGAAGTTATTAACT	0.313000														133			5		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268041	1268041	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:1268041C>T	uc010nyk.2	+	2	1130	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	377					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GACTGCATCACGCTGCAGAAC	0.642000														35			11		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439309	7439309	+	Silent	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:7439309C>T	uc001mfe.3	+	4	1524	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	429	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P429P(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGTCCCTCCCGAGAACATTG	0.473000														105			4		0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80010268	80010268	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:80010268T>C	uc002kdk.1	+	0	506	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RFNG_uc002kdh.3_5'Flank|RFNG_uc021ufl.1_5'Flank|RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Intron|GPS1_uc010dij.1_Missense_Mutation_p.V29A|GPS1_uc002kdm.1_5'UTR|GPS1_uc002kdn.1_Intron|GPS1_uc010wvh.1_Intron	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TCAGACCTCGTCCTGCCCGGC	0.647000														91			4		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843574	75843574	+	Splice_Site	SNP	C	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr6:75843574C>A	uc021zbv.1	-	32	5699	c.5664_splice	c.e32+1	p.L1888_splice	COL12A1_uc021zbw.1_Splice_Site_p.L724_splice|COL12A1_uc003phs.3_Splice_Site_p.L1888_splice|COL12A1_uc003pht.3_Splice_Site_p.L724_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1888	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATAATTACCAGTTCCTCTG	0.433000														69			8		0.00307968	0.00315865	1	1	0
C2orf49	79074	broad.mit.edu	37	2	105956200	105956200	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:105956200C>A	uc002tcs.1	+	1	292	c.260C>A	c.(259-261)aCt>aAt	p.T87N	C2orf49_uc010fjd.1_Missense_Mutation_p.T87N	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	Homo sapiens chromosome 2 open reading frame 49 (C2orf49), mRNA.	87						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AAAAATGAGACTAAAAGGTAC	0.308000														46			5		1.23904e-05	1.30425e-05	1	1	0
BC063132	0	broad.mit.edu	37	GL000241.1	24695	24695	+	RNA	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrGL000241.1:24695C>T	uc011mgv.2	-	4		c.518G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GGGCCCTCATCAACTATTGGA	0.308000														630			8		0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30409627	30409627	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:30409627A>G	uc002ymy.3	+	5	681	c.479A>G	c.(478-480)gAa>gGa	p.E160G	USP16_uc002ymx.3_Missense_Mutation_p.E159G|USP16_uc002ymw.3_Missense_Mutation_p.E160G|USP16_uc011acm.2_Missense_Mutation_p.E145G|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	160					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATTGAACTTGAAAATAAAAAA	0.303000														67			5		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331882	17331882	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:17331882A>G	uc001baa.2	-	2	465	c.275T>C	c.(274-276)aTa>aCa	p.I92T	ATP13A2_uc001bac.2_Missense_Mutation_p.I92T|ATP13A2_uc001bab.2_Missense_Mutation_p.I92T	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	92					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TTTGTCTCTTATTTCGATAAC	0.637000														42			4		0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866283	156866283	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:156866283T>C	uc003fbf.3	-	10	1927	c.1328A>G	c.(1327-1329)cAt>cGt	p.H443R	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.H237R|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	443					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGGAGAACCATGATTATGATG	0.433000														72			45		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107718	55107718	+	Silent	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr19:55107718C>T	uc002qgh.1	+	6	1205	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	LILRA1_uc010yfg.1_Silent_p.N339N|LILRA1_uc010yfh.2_Silent_p.N341N	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	341	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGAGAGAACGTGACCCTGC	0.607000														119			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222358	140222358	+	Silent	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:140222358G>A	uc003lhs.2	+	0	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A484A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657000														79			20		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325884	31325884	+	Silent	SNP	T	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:31325884T>C	uc010dmg.1	+	11	6127	c.6072T>C	c.(6070-6072)ccT>ccC	p.P2024P	ASXL3_uc002kxq.2_Silent_p.P1731P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2024	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						cgcctccccctccccctccac	0.602000														17			3		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100390083	100390083	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:100390083G>A	uc003uwj.3	+	42	7931	c.7766G>A	c.(7765-7767)cGt>cAt	p.R2589H	ZAN_uc003uwk.3_Missense_Mutation_p.R2589H|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.V583I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2590					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAGGAGCTGCGTTGCCAGGTC	0.667000														113			11		0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779712	52779712	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr4:52779712G>A	uc011bzo.2	+	10	980	c.973G>A	c.(973-975)Gag>Aag	p.E325K	DCUN1D4_uc003gze.3_Missense_Mutation_p.E281K|DCUN1D4_uc003gzf.3_Missense_Mutation_p.E246K|DCUN1D4_uc011bzn.2_Missense_Mutation_p.E221K|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	281										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTTGTTGGACGAGTTTGTGGA	0.373000														52			4		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941779	18941779	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:18941779C>T	uc003zni.2	-	2	627	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	FAM154A_uc010mip.2_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	93								p.F92F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCACTCGGGACGAACTGGTCA	0.502000														169			7		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360546	71360546	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:71360546G>A	uc011mqa.2	+	5	3148	c.3148G>A	c.(3148-3150)Gat>Aat	p.D1050N	NHSL2_uc004eak.1_Missense_Mutation_p.D684N|NHSL2_uc010nli.2_Missense_Mutation_p.D819N	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1050										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGCCACCGGCGATGACCTGCA	0.552000														85			4		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158485614	158485614	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:158485614G>A	uc011kwe.1	-	3	447	c.302C>T	c.(301-303)tCt>tTt	p.S101F	NCAPG2_uc010lqu.1_5'Flank|NCAPG2_uc003wnx.1_Missense_Mutation_p.S101F|NCAPG2_uc003wnv.1_Missense_Mutation_p.S101F|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	101					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAGAATCACAGATGTAATTGC	0.279000														238			33		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38040486	38040486	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:38040486G>T	uc003chj.3	+	9	1312	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	VILL_uc003chl.3_Missense_Mutation_p.Q342H|VILL_uc010hgu.3_Missense_Mutation_p.Q172H	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	342					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGTTCAAGCAGCTCTTCCGGA	0.706000														34			20		3.01185e-09	3.76481e-09	1	1	0
RBX1	9978	broad.mit.edu	37	22	41368482	41368482	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:41368482A>G	uc003azk.3	+	4	369	c.317A>G	c.(316-318)tAt>tGt	p.Y106C		NM_014248	NP_055063	P62877	RBX1_HUMAN	Homo sapiens ring-box 1, E3 ubiquitin protein ligase (RBX1), mRNA.	106					DNA repair|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|protein neddylation|protein ubiquitination|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|SCF ubiquitin ligase complex|cytosol|nucleus	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TCTTTCAGGTATGGGCACTAG	0.328000														169			47		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483676	114483676	+	Missense_Mutation	SNP	A	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:114483676A>C	uc001eem.3	+	1	832	c.671A>C	c.(670-672)cAc>cCc	p.H224P	HIPK1_uc001eel.3_Missense_Mutation_p.H224P|HIPK1_uc001een.3_Missense_Mutation_p.H224P	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	224	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGAAGAACCACCCCTCCTAT	0.478000														33			6		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361543	122361543	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:122361543A>G	uc009zxk.3	+	2	553	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	WDR66_uc021rfh.1_Missense_Mutation_p.S132G	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	132							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCAAAGAGGTAGCAAGTCAAA	0.363000														43			3		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31154780	31154780	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:31154780G>T	uc002ebd.3	-	7	1042	c.983C>A	c.(982-984)gCc>gAc	p.A328D	PRSS36_uc010vff.2_Missense_Mutation_p.A103D|PRSS36_uc010vfg.2_Missense_Mutation_p.A328D|PRSS36_uc010vfh.2_Missense_Mutation_p.A328D	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	328	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCCGCGGGGCCTTCCCGCA	0.667000														48			4		1.024e-07	1.17029e-07	1	1	0
AK308867	0	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	C	C	rs149244259	by1000genomes	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr16:70268080T>C	uc010cfp.1	-	2		c.335A>G								Homo sapiens cDNA, FLJ98908.																		GTCTTACTGTTGGCTAAAAGG	0.373000														27			5		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592026	38592026	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr3:38592026C>A	uc021wvo.1	-	26	5889	c.5837G>T	c.(5836-5838)gGc>gTc	p.G1946V	SCN5A_uc021wvk.1_Missense_Mutation_p.G1913V|SCN5A_uc021wvl.1_Missense_Mutation_p.G1892V|SCN5A_uc021wvm.1_Missense_Mutation_p.G1928V|SCN5A_uc021wvn.1_Missense_Mutation_p.G1945V|SCN5A_uc021wvp.1_Missense_Mutation_p.G1946V|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1758V|SCN5A_uc021wvi.1_Missense_Mutation_p.G1812V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1946					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCGATGAGGCCCTCTCGCTC	0.622000														86			6		1.06961e-07	1.18846e-07	1	1	0
EIF2C2	27161	broad.mit.edu	37	8	141551316	141551316	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:141551316G>T	uc003yvn.3	-	14	2022	c.1981C>A	c.(1981-1983)Ccc>Acc	p.P661T	EIF2C2_uc010meo.3_Missense_Mutation_p.P661T|EIF2C2_uc010men.3_Missense_Mutation_p.P584T	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	661	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			ATGCGGGTGGGCTTGAAGCGC	0.612000														63			6		2.0095e-06	2.17243e-06	1	1	0
KAT7	11143	broad.mit.edu	37	17	47893250	47893250	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:47893250C>A	uc002ipm.3	+	7	1154	c.938C>A	c.(937-939)gCa>gAa	p.A313E	KAT7_uc002ipl.2_Missense_Mutation_p.A283E|KAT7_uc010wma.2_Missense_Mutation_p.A174E|KAT7_uc010wmb.2_Missense_Mutation_p.A203E|KAT7_uc010wmc.2_Missense_Mutation_p.A144E|KAT7_uc010wmd.2_Missense_Mutation_p.A157E|KAT7_uc010wme.2_Missense_Mutation_p.A127E|KAT7_uc010wmf.2_5'UTR|KAT7_uc010wmg.2_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	313					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TTCCGAAGAGCACAAGCCCGG	0.448000														31			4		0.00909568	0.00909568	1	1	0
SNPH	9751	broad.mit.edu	37	20	1276943	1276943	+	Silent	SNP	C	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr20:1276943C>A	uc002wet.3	+	3	741	c.60C>A	c.(58-60)ggC>ggA	p.G20G	SNPH_uc002wes.3_Intron	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	0					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G20G(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTCTGCGGGCCCCCCAACCC	0.687000														93			9		1.76689e-08	2.14169e-08	1	1	0
TMEM31	203562	broad.mit.edu	37	X	102967204	102967204	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chrX:102967204G>C	uc004elh.3	+	1	209	c.18G>C	c.(16-18)aaG>aaC	p.K6N	GLRA4_uc011mse.2_Intron	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN	Homo sapiens transmembrane protein 31 (TMEM31), mRNA.	6						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TAACAGAAAAGAGTGAGGGAG	0.413000														52			52		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139946006	139946006	+	Silent	SNP	G	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr9:139946006G>T	uc004ckw.2	-	2	396	c.342C>A	c.(340-342)ggC>ggA	p.G114G	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Silent_p.G114G	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	114						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAGGGGTGTGCCCGCGTGTC	0.617000														73			7		2.7689e-08	3.25752e-08	1	1	0
BRAP	8315	broad.mit.edu	37	12	112082340	112082340	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:112082340G>A	uc001tsn.4	-	11	1636	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	BRAP_uc010syh.2_Missense_Mutation_p.A302V|BRAP_uc009zvv.3_Missense_Mutation_p.A451V	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	481					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GGTGAGTTTGGCCACTTTTGT	0.458000														138			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708238	13708238	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:13708238C>T	uc003jfd.2	-	75	13374	c.13332G>A	c.(13330-13332)tgG>tgA	p.W4444*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W612*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4444					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTACTTTTTTCCACCAAGCAG	0.403000									Kartagener syndrome					161			10		0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16341081	16341081	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:16341081T>C	uc010ktx.2	-	4	800	c.800A>G	c.(799-801)aAa>aGa	p.K267R	ISPD_uc010kty.2_Missense_Mutation_p.K217R	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	267					isoprenoid biosynthetic process		nucleotidyltransferase activity	p.Y266C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAGATCTCGTTTGTAGGTCAC	0.388000										Multiple Myeloma(15;0.18)				95			4		0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	206988916	206988916	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr2:206988916A>G	uc010ziq.2	-	18	2280	c.2219T>C	c.(2218-2220)aTa>aCa	p.I740T	NDUFS1_uc002vbe.3_Missense_Mutation_p.I726T|NDUFS1_uc010zir.2_Missense_Mutation_p.I690T|NDUFS1_uc010zis.2_Missense_Mutation_p.I669T|NDUFS1_uc010zit.2_Missense_Mutation_p.I615T|NDUFS1_uc010ziu.2_Missense_Mutation_p.I610T	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	726					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCTTCAGCATATGGATGGTTC	0.408000														60			3		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534970	43534970	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr18:43534970T>C	uc002lbm.3	-	1	498	c.398A>G	c.(397-399)gAa>gGa	p.E133G	EPG5_uc002lbo.1_Missense_Mutation_p.E133G	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	133					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTGGGGGTTTCTACTTTAGT	0.498000														176			4		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909291	65909291	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:65909291G>A	uc002jgf.3	+	10	5352	c.5291G>A	c.(5290-5292)gGc>gAc	p.G1764D	BPTF_uc002jge.3_Missense_Mutation_p.G1890D	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1890	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCGACCTTTGGCATCACTTGG	0.363000														51			3		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356927	37356927	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr20:37356927C>T	uc002xjc.3	+	1	1486	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	408					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGGAGAAGTCGCTCTTCCAG	0.657000														68			3		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203693038	203693039	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr1:203693038_203693039insT	uc001gzw.3	+	18	3951_3952	c.3054_3055insT	c.(3052-3057)cccttcfs	p.P1018fs	ATP2B4_uc001gzv.3_Frame_Shift_Ins_p.P1018fs|ATP2B4_uc009xaq.3_Frame_Shift_Ins_p.P1018fs|ATP2B4_uc001gzx.3_Frame_Shift_Ins_p.P49fs|ATP2B4_uc009xar.3_Intron	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1018					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGTAAACCCTTCAGTTGTAC	0.545													---	64	---	---	7	---					
CRIPAK	285464	broad.mit.edu	37	4	1388673	1388673	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr4:1388673delC	uc003gdf.2	+	0	3334	c.374delC	c.(373-375)gccfs	p.A125fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	125					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGCGGAGTGCCCGCCTGCTC	0.697													---	60	---	---	7	---					
THBS4	7060	broad.mit.edu	37	5	79331430	79331431	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr5:79331430_79331431insC	uc021yaw.1	+	0	261_262	c.70_71insC	c.(70-72)gccfs	p.A24fs		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	24					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCGGCAGGCGCCCAGGCCACC	0.738													---	4	---	---	2	---					
GTF2IRD1	9569	broad.mit.edu	37	7	74016919	74016919	+	Splice_Site	DEL	A	-	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr7:74016919delA	uc003uaq.3	+	27	3433	c.3040_splice	c.e27+1		GTF2IRD1_uc010lbq.3_Splice_Site|GTF2IRD1_uc003uap.3_Splice_Site	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTAAAAAAAGAAAAAAAAAAA	0.373													---	6	---	---	4	---					
WWP1	11059	broad.mit.edu	37	8	87414376	87414376	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr8:87414376delG	uc003ydt.3	+	7	948	c.668delG	c.(667-669)agafs	p.R223fs	WWP1_uc010mai.3_Intron	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	223					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTGCTGCCAGACCCAAAAAT	0.443													---	219	---	---	7	---					
CAPRIN1	4076	broad.mit.edu	37	11	34118204	34118204	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:34118204delT	uc001mvh.1	+	15	2073	c.1884delT	c.(1882-1884)cctfs	p.P628fs	CAPRIN1_uc001mvg.3_Frame_Shift_Del_p.P628fs|CAPRIN1_uc001mvi.2_Frame_Shift_Del_p.P628fs|CAPRIN1_uc001mvj.1_Frame_Shift_Del_p.P547fs	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	628					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACCGGGGCCCTGCCAATGGAT	0.403													---	78	---	---	7	---					
C11orf9	745	broad.mit.edu	37	11	61537812	61537813	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:61537812_61537813insC	uc001nsc.1	+	4	651_652	c.555_556insC	c.(553-558)ttgccafs	p.L185fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.L176fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	185	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CAGCCCACTTGCCAGGCCCCCC	0.688													---	192	---	---	7	---					
FRMD8	83786	broad.mit.edu	37	11	65172422	65172423	+	Frame_Shift_Ins	INS	-	C	C	rs139552682		TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr11:65172422_65172423insC	uc001odu.4	+	9	1351_1352	c.1159_1160insC	c.(1159-1161)tcgfs	p.S387fs	FRMD8_uc009yqj.3_Frame_Shift_Ins_p.S331fs|FRMD8_uc010rof.2_Frame_Shift_Ins_p.S353fs	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	387						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCGACTGGCTCGCCCTCGGAC	0.663													---	140	---	---	9	---					
MLL2	8085	broad.mit.edu	37	12	49415604	49415605	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:49415604_49415605insG	uc001rta.4	-	53	16572_16573	c.16572_16573insC	c.(16570-16575)ccctgcfs	p.P5524fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5524	Post-SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCACAGTGGCAGGGGATCTTGT	0.510			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	133	---	---	8	---					
CEP290	80184	broad.mit.edu	37	12	88443060	88443060	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr12:88443060delT	uc001tar.3	-	53	7685	c.7341delA	c.(7339-7341)aaafs	p.K2447fs	CEP290_uc001taq.3_Frame_Shift_Del_p.K1507fs|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2447					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTCTGAAAGTTTTTTTACCT	0.308													---	535	---	---	7	---					
CALML4	91860	broad.mit.edu	37	15	68489865	68489866	+	In_Frame_Ins	INS	-	CAT	CAT			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr15:68489865_68489866insCAT	uc002arb.3	-	3	1139_1140	c.405_406insATG	c.(403-408)insATG	p.135_136insM	CALML4_uc002arc.3_In_Frame_Ins_p.88_89insM|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	135	EF-hand 3.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCCTTGTCCACCATCAACATGG	0.475													---	254	---	---	13	---					
SEPT9	10801	broad.mit.edu	37	17	75398360	75398361	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr17:75398360_75398361insG	uc002jts.4	+	2	422_423	c.296_297insG	c.(295-297)aagfs	p.K99fs	SEPT9_uc010wtk.2_Frame_Shift_Ins_p.K80fs|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Frame_Shift_Ins_p.K81fs|SEPT9_uc002jtv.3_Frame_Shift_Ins_p.K92fs|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	99					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TCGGGCCCCAAGGCGGCCGAGC	0.688													---	51	---	---	7	---					
APP	351	broad.mit.edu	37	21	27372385	27372386	+	Frame_Shift_Ins	INS	-	C	C	rs141526793	by1000genomes	TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr21:27372385_27372386insC	uc002ylz.3	-	6	1177_1178	c.977_978insG	c.(976-978)ggcfs	p.G326fs	APP_uc010glk.3_Frame_Shift_Ins_p.G321fs|APP_uc002yma.3_Frame_Shift_Ins_p.G326fs|APP_uc011ach.2_Frame_Shift_Ins_p.G270fs|APP_uc021whz.1_Frame_Shift_Ins_p.G326fs|APP_uc021wia.1_Frame_Shift_Ins_p.G326fs|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	326	BPTI/Kunitz inhibitor.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGTTCCGGTTGCCGCCACATCC	0.574													---	119	---	---	8	---					
SEC14L3	266629	broad.mit.edu	37	22	30857663	30857664	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8407-01A-11D-2310-10	TCGA-KO-8407-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64f696a6-58b2-40a8-b848-fd775cd52529	60f94151-bbc5-4bea-a081-b0247bdbabb3	g.chr22:30857663_30857664insC	uc003ahy.3	-	9	878_879	c.789_790insG	c.(787-792)gagatcfs	p.E263fs	SEC14L3_uc003ahz.3_Frame_Shift_Ins_p.E186fs|SEC14L3_uc003aia.3_Frame_Shift_Ins_p.E204fs|SEC14L3_uc003aib.3_Frame_Shift_Ins_p.E204fs	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	263						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GACTTGGGGATCTCCCCGCCAT	0.540													---	85	---	---	7	---					
