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
ARID5B	84159	broad.mit.edu	37	10	63700094	63700094	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:63700094G>A	uc001jlt.2	+	2	885	c.429G>A	c.(427-429)ctG>ctA	p.L143L	ARID5B_uc010qil.2_Silent_p.L143L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	143					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGAAGCTCTGCTGAAGTACA	0.458000														62			5		0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90802425	90802425	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:90802425G>A	uc003yee.3	+	10	1718	c.1404G>A	c.(1402-1404)ttG>ttA	p.L468L	RIPK2_uc003yef.3_Silent_p.L331L	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	468	CARD.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCAGGGACTTGATCATGAAAG	0.453000														70			41		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:121238908C>T	uc003yox.3	+	15	2172	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_uc003yoy.3_Missense_Mutation_p.T314M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483000														56			28		0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37861212	37861212	+	Missense_Mutation	SNP	C	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:37861212C>G	uc004aao.3	+	6	1461	c.1387C>G	c.(1387-1389)Cat>Gat	p.H463D	DCAF10_uc010mlz.3_Missense_Mutation_p.H290D|DCAF10_uc004aap.3_Missense_Mutation_p.H114D	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 10 (DCAF10), mRNA.	463						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						ACGACTGACTCATTACATTGA	0.488000														123			21		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623194	39623194	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:39623194G>A	uc002hwr.3	-	0	445	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	128	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGGCCTCTTGGATCCTGCTCT	0.582000														27			13		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57697474	57697474	+	Missense_Mutation	SNP	A	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:57697474A>C	uc002emb.2	+	14	2354	c.2062A>C	c.(2062-2064)Acc>Ccc	p.T688P	GPR56_uc002ema.1_Missense_Mutation_p.T513P|GPR56_uc002emc.2_Missense_Mutation_p.T682P|GPR56_uc002emf.2_Missense_Mutation_p.T682P|GPR56_uc010vhs.1_Missense_Mutation_p.T688P|GPR56_uc002emd.2_Missense_Mutation_p.T682P|GPR56_uc002eme.2_Missense_Mutation_p.T682P|GPR56_uc010vht.1_Missense_Mutation_p.T687P|GPR56_uc002emg.3_Missense_Mutation_p.T682P|GPR56_uc010vhu.1_Missense_Mutation_p.T507P	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	688					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTCGGGCAGCACCTCGTCCAG	0.672000														26			5		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28128693	28128693	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:28128693G>A	uc002dpa.1	-	14	2451	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	XPO6_uc002dpb.1_Silent_p.F636F|XPO6_uc010vcp.1_Silent_p.F650F	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	650					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGAGTGTCACGAACTGCTGCG	0.502000														138			4		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992203	21992203	+	Silent	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:21992203C>T	uc001wbe.3	-	1	1941	c.1659G>A	c.(1657-1659)ttG>ttA	p.L553L	SALL2_uc010tly.2_Silent_p.L551L|SALL2_uc010tlz.1_Silent_p.L416L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.L418L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	553							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGAAGTCACCAACTTACTTA	0.547000														90			5		0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74368806	74368806	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:74368806G>T	uc002fcr.2	-	12	2143	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		AAAGAGGCTTGGGAAGTGGTC	0.453000														71			7		5.18039e-06	5.74553e-06	1	1	0
RAD17	5884	broad.mit.edu	37	5	68695895	68695895	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:68695895C>T	uc003jwo.3	+	13	1687	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	RAD17_uc003jwg.3_Missense_Mutation_p.A531V|RAD17_uc003jwi.3_Missense_Mutation_p.A531V|RAD17_uc003jwh.3_Missense_Mutation_p.A531V|RAD17_uc003jwj.3_Missense_Mutation_p.A531V|RAD17_uc003jwk.3_Missense_Mutation_p.A531V|RAD17_uc003jwl.3_Missense_Mutation_p.A531V|RAD17_uc003jwm.3_Missense_Mutation_p.A366V|RAD17_uc003jwn.3_Missense_Mutation_p.A445V	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	542	Interaction with MCM7.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AATTGCCTGGCAGCAAAAGCA	0.338000								Other conserved DNA damage response genes						261			5		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954855	72954855	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:72954855G>A	uc010uks.1	+	10	1151	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	370										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TTCGGGAGCAGCAGAAGACGC	0.592000														136			11		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513562	61513562	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:61513562G>C	uc002ydr.2	-	15	4058	c.3746C>G	c.(3745-3747)gCa>gGa	p.A1249G	DIDO1_uc002yds.2_Missense_Mutation_p.A1249G	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1249					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGCCGCGTCTGCAGAGCAGAG	0.602000														63			22		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45991752	45991752	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:45991752G>T	uc002pcb.3	-	8	1704	c.1474C>A	c.(1474-1476)Ccc>Acc	p.P492T	RTN2_uc002pcc.3_Missense_Mutation_p.P419T|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	492	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TACAGCAGGGGGATGGTGAAT	0.587000														52			15		3.45872e-05	3.70143e-05	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79301068	79301068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:79301068C>T	uc003hlb.2	+	26	3921	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.Q1161*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1160					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAAAGAGGTTCAGCTGGACAA	0.473000														107			28		0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903397	11903397	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:11903397A>G	uc002wnz.3	+	3	1011	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	BTBD3_uc002wny.3_Missense_Mutation_p.T157A|BTBD3_uc002woa.3_Missense_Mutation_p.T157A|BTBD3_uc010zrf.2_Missense_Mutation_p.T67A|BTBD3_uc010zrg.2_Missense_Mutation_p.T67A|BTBD3_uc010zrh.2_Missense_Mutation_p.T67A	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	218								p.T218S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TTTCCTGGAGACCAGCCTGAG	0.542000														126			8		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131913154	131913154	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:131913154C>T	uc003vra.4	-	5	1908	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	560						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCGTCAGCCGGACACACTG	0.592000														109			9		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513838	45513838	+	Splice_Site	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:45513838G>T	uc001wvw.3	+	13	4128	c.3919_splice	c.e13-1	p.V1307_splice	FAM179B_uc001wvv.3_Splice_Site_p.V1307_splice|FAM179B_uc010anc.3_Splice_Site	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1307							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTTTTTAGGTGAAAAATTT	0.303000														44			37		1.15183e-24	1.43391e-24	1	1	0
AGPAT9	84803	broad.mit.edu	37	4	84465716	84465716	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:84465716A>G	uc003how.3	+	2	387	c.169A>G	c.(169-171)Acc>Gcc	p.T57A	AGPAT9_uc003hox.3_Missense_Mutation_p.T57A|AGPAT9_uc003hoy.3_Missense_Mutation_p.T57A	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	57					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGAAAAAGGAACCCCAAAGGA	0.343000														151			5		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704589	143704589	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:143704589G>T	uc003evo.3	+	1	1397	c.862G>T	c.(862-864)Gtc>Ttc	p.V288F	C3orf58_uc011bnl.2_Missense_Mutation_p.V79F	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	288						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCCTGGACGTCAGCTTTGA	0.408000														54			24		6.12954e-19	7.47803e-19	1	1	0
INSC	387755	broad.mit.edu	37	11	15267583	15267583	+	Silent	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:15267583G>T	uc001mlz.3	+	12	1707	c.1596G>T	c.(1594-1596)gtG>gtT	p.V532V	INSC_uc001mly.3_Silent_p.V579V|INSC_uc001mma.3_3'UTR|INSC_uc010rcs.2_Silent_p.V567V|INSC_uc001mmb.3_Silent_p.V532V|INSC_uc001mmc.3_Silent_p.V490V	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	579					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGAGTTTTGTGTAGTGAGTGT	0.517000														135			4		0.00198382	0.00201688	1	1	0
HIRA	7290	broad.mit.edu	37	22	19363305	19363305	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:19363305T>C	uc002zpf.1	-	14	1844	c.1624A>G	c.(1624-1626)Acc>Gcc	p.T542A	HIRA_uc011agx.1_Missense_Mutation_p.T408A|HIRA_uc010grn.1_Missense_Mutation_p.T542A|HIRA_uc010gro.2_Missense_Mutation_p.T498A|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	542	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGAGTAGAGGTAGCATTCATA	0.488000														60			34		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153230057	153230057	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:153230057T>C	uc004fjp.3	-	1	842	c.314A>G	c.(313-315)aAa>aGa	p.K105R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	105					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTGTATTTCCCATACTC	0.587000														83			5		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2777897	2777897	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:2777897G>A	uc002wgu.3	-	5	847	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CPXM1_uc010gas.3_Missense_Mutation_p.T258I	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	258	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.Q257P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGGAGCCAGGTCTGGGGCAG	0.657000														56			20		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577710	30577710	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:30577710G>C	uc022bui.1	-	0	763	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	CXorf21_uc004dcg.2_Missense_Mutation_p.Q255E	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	255										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTAGACACTTGAAGACTGATT	0.403000														210			6		0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34658538	34658538	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr9:34658538G>T	uc003zvi.3	+	7	2024	c.668G>T	c.(667-669)gGc>gTc	p.G223V	IL11RA_uc011loq.2_Missense_Mutation_p.G223V|IL11RA_uc003zvj.3_Missense_Mutation_p.G223V|IL11RA_uc003zvk.3_Missense_Mutation_p.G223V|IL11RA_uc010mke.3_Missense_Mutation_p.G105V	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	223	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCACCCCAGGGCCTGCGGGTA	0.602000														69			5		5.9392e-07	6.83568e-07	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328864	3328864	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:3328864G>C	uc001akf.3	+	8	2185	c.2103G>C	c.(2101-2103)gaG>gaC	p.E701D	PRDM16_uc001ake.3_Missense_Mutation_p.E701D|PRDM16_uc009vlh.3_Missense_Mutation_p.E402D|PRDM16_uc001akc.3_Missense_Mutation_p.E701D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	701	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATTGCCGAGAAGTACTTTG	0.627000			T	EVI1	"""MDS, AML"""									17			8		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616249	79616249	+	RNA	SNP	T	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:79616249T>G	uc011ctk.1	-	1		c.1266A>C			SPZ1_uc003kgn.3_Missense_Mutation_p.L72R			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTAACAATCTCTTAAAAGAA	0.368000														62			43		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575585	12575585	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:12575585C>T	uc002mtv.4	-	3	1312	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ZNF709_uc002mtw.4_Missense_Mutation_p.R352Q|ZNF709_uc002mtx.4_Missense_Mutation_p.R384Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.403000														97			3		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874437	39874437	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:39874437G>C	uc003opb.3	-	9	1745	c.1607C>G	c.(1606-1608)gCc>gGc	p.A536G	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Missense_Mutation_p.A433G	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	536	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGCCAGCTGGGCCACCACTAG	0.637000														10			22		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677902	149677902	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:149677902C>A	uc003lrv.2	-	1	1174	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	195						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCTCACCCTCGTGCAGGT	0.627000														35			30		2.47316e-13	2.9012e-13	1	1	0
RCAN2	10231	broad.mit.edu	37	2	174074493	174074493	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:174074493G>A	uc002uhz.3	+	9	981	c.781G>A	c.(781-783)Gag>Aag	p.E261K	RCAN2_uc002uhx.3_Missense_Mutation_p.E261K|RCAN2_uc002uhy.3_Missense_Mutation_p.E261K|RCAN2_uc010zei.2_Missense_Mutation_p.E160K|MLK7-AS1_uc002uib.3_Non-coding_Transcript	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTCAATCCTGGAGTCCATGTC	0.453000														76			3		0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6415260	6415260	+	Missense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:6415260G>C	uc001mcw.3	+	4	1660	c.1475G>C	c.(1474-1476)gGc>gCc	p.G492A	SMPD1_uc021qcz.1_Missense_Mutation_p.G492A|SMPD1_uc001mcv.2_Non-coding_Transcript|SMPD1_uc009yew.3_Missense_Mutation_p.G491A|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	490					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	ACCTACATCGGCCTTAATCCT	0.557000														82			39		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89693003	89693003	+	Nonsense_Mutation	SNP	A	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr10:89693003A>T	uc001kfb.3	+	4	1519	c.487A>T	c.(487-489)Aaa>Taa	p.K163*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	163	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D162H(1)|p.K163_V166>NKGE(1)|p.D162V(1)|p.F56fs*2(1)|p.D162fs*8(1)|p.D162G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCAGAGACAAAAAGGTAAG	0.348000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				27			66		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671287	99671287	+	Nonsense_Mutation	SNP	A	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:99671287A>T	uc002bup.3	+	4	2839	c.2719A>T	c.(2719-2721)Aaa>Taa	p.K907*	SYNM_uc002buo.3_Nonsense_Mutation_p.K907*|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	908	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACTCACTGGAAAGAACAAGC	0.522000														87			39		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782502	134782502	+	Silent	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:134782502C>T	uc003lav.3	-	0	537	c.297G>A	c.(295-297)tcG>tcA	p.S99S		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	99						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCTTCACTCGAAAGATTGG	0.592000														59			14		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53493465	53493465	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:53493465C>T	uc002ehi.4	+	8	1400	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RBL2_uc010vgv.1_Missense_Mutation_p.R354C|RBL2_uc002ehj.3_Missense_Mutation_p.R138C|RBL2_uc010vgw.2_Missense_Mutation_p.R212C	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	428	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGCTTGAGTCGTCTTCACAC	0.458000														34			3		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77275864	77275864	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:77275864T>C	uc004ecx.4	+	12	2910	c.2750T>C	c.(2749-2751)gTc>gCc	p.V917A		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	917					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCTCAAATTGTCAAACTTGTG	0.418000														14			84		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171243	214171243	+	Silent	SNP	T	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:214171243T>A	uc001hkh.3	+	1	1637	c.1365T>A	c.(1363-1365)ccT>ccA	p.P455P	PROX1_uc001hkg.1_Silent_p.P455P	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	455				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTCCGGCCCTGCCGCTGGCG	0.637000														17			36		0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269302	37269302	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:37269302G>A	uc001uvt.4	+	1	533	c.87G>A	c.(85-87)acG>acA	p.T29T	SERTM1_uc021rii.1_Silent_p.T29T	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	29						integral to membrane											CCCTGTCCACGTCAGTGGACC	0.478000														28			42		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266098	39266098	+	Silent	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr13:39266098C>T	uc001uwv.3	+	0	4926	c.4617C>T	c.(4615-4617)caC>caT	p.H1539H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1539					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCACCATCCACAAGCTGGTTG	0.443000														65			4		0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88125234	88125234	+	Silent	SNP	T	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:88125234T>C	uc010fhc.2	-	0	53	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_uc021vkn.1_Intron	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	0					intracellular transport		binding			breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667000														86			5		0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21461923	21461923	+	Silent	SNP	A	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr5:21461923A>T	uc010iub.3	+	2	203	c.123A>T	c.(121-123)gcA>gcT	p.A41A	GUSBP1_uc011cnn.1_Non-coding_Transcript|GUSBP1_uc003jgh.4_Non-coding_Transcript|GUSBP1_uc003jgf.3_Silent_p.A41A|GUSBP1_uc003jgg.4_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 1 (GUSBP1), transcript variant 3, non-coding RNA.																		ACTTGGAAGCAATGTTTGAAC	0.373000														96			32		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:51183206G>T	uc003bnh.4	+	4	849	c.837G>T	c.(835-837)tgG>tgT	p.W279C		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	279	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597000														81			7		1.58986e-06	1.79596e-06	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908145	103908145	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:103908145C>T	uc001phr.2	+	0	838	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	199					proteolysis		aspartic-type endopeptidase activity	p.R199H(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGAGAGGCTTCGTCTCTACAC	0.512000														55			19		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7578176C>A	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.3_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.2_Missense_Mutation_p.V186F|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				59			3		0.004672	0.004672	1	1	0
C11orf9	745	broad.mit.edu	37	11	61544745	61544745	+	Missense_Mutation	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:61544745C>T	uc001nsc.1	+	11	1696	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	C11orf9_uc001nse.1_Missense_Mutation_p.P525S|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	534					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						GGCCTCCAACCCAGGCCAGTT	0.677000														51			3		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204226633	204226633	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr1:204226633G>A	uc001hau.3	-	8	1689	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	PLEKHA6_uc009xaw.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xax.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xay.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xaz.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xba.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xbb.1_Missense_Mutation_p.R82C|PLEKHA6_uc009xbc.1_Missense_Mutation_p.R82C	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	458										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGGGTGAGCGGGGCACAGAG	0.667000														56			3		0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122990419	122990419	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:122990419G>T	uc003ege.3	+	6	853	c.774G>T	c.(772-774)ttG>ttT	p.L258F	SEC22A_uc003egf.3_Missense_Mutation_p.L258F	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	258					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		AATCTTTTTTGACTTTTGGCT	0.378000														76			7		3.62531e-18	4.33615e-18	1	1	0
YAP1	10413	broad.mit.edu	37	11	102098274	102098274	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:102098274C>A	uc001pgt.3	+	7	1626	c.1238C>A	c.(1237-1239)cCa>cAa	p.P413Q	YAP1_uc001pgu.3_Missense_Mutation_p.P397Q|YAP1_uc001pgv.3_Missense_Mutation_p.P359Q|YAP1_uc021qpf.1_Missense_Mutation_p.P375Q|YAP1_uc010ruo.2_Missense_Mutation_p.P235Q|YAP1_uc001pgw.2_Missense_Mutation_p.P237Q|YAP1_uc010rup.1_Missense_Mutation_p.P178Q	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	413	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CCTCGAACCCCAGATGACTTC	0.448000														98			50		1.1362e-29	1.44392e-29	1	1	0
BMP1	649	broad.mit.edu	37	8	22052331	22052331	+	Missense_Mutation	SNP	A	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:22052331A>G	uc003xbg.3	+	11	1804	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	BMP1_uc003xbf.3_Missense_Mutation_p.E262G|BMP1_uc003xbb.3_Missense_Mutation_p.E513G|BMP1_uc003xbc.3_Missense_Mutation_p.E262G|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.E262G|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	513	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGTGGCTATGAGAAGCCTGAT	0.567000														58			20		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418134	44418134	+	Nonsense_Mutation	SNP	G	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:44418134G>C	uc002oxu.2	-	3	1553	c.1454C>G	c.(1453-1455)tCa>tGa	p.S485*	ZNF45_uc002oxw.2_Nonsense_Mutation_p.S485*	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	485					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S485*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTAAGATCTGAGCTCCGACT	0.502000														67			28		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408125	30408125	+	Silent	SNP	C	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:30408125C>T	uc002wwq.2	+	2	351	c.249C>T	c.(247-249)ggC>ggT	p.G83G		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	83					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGACAGGGGCGGGGGGCCCG	0.662000														31			24		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326788	37326788	+	Missense_Mutation	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:37326788G>A	uc003aqa.4	+	7	1145	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CSF2RB_uc003aqc.4_Missense_Mutation_p.V316M	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	310					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCAGATTCCCGTGCCCGACCC	0.607000														47			4		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145108284	145108284	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:145108284G>T	uc003zar.3	-	19	2781	c.2699C>A	c.(2698-2700)gCc>gAc	p.A900D	OPLAH_uc003zas.1_Silent_p.G174G	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	900							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCCCGCAGGGCCTCCGTCAC	0.647000														94			8		9.31168e-06	1.01431e-05	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48694702	48694702	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:48694702G>A	uc003cuf.1	-	3	4038	c.4038C>T	c.(4036-4038)acC>acT	p.T1346T	CELSR3_uc003cul.3_Silent_p.T1276T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1276					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGCGCACGGTCAGGCTGT	0.682000														84			64		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105464866	105464866	+	Missense_Mutation	SNP	A	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:105464866A>C	uc003dwc.3	-	5	1062	c.740T>G	c.(739-741)tTg>tGg	p.L247W	CBLB_uc011bhi.2_Missense_Mutation_p.L269W|CBLB_uc003dwd.2_Missense_Mutation_p.L247W|CBLB_uc003dwe.2_Missense_Mutation_p.L247W|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	247	Cbl-PTB.|SH2-like.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCAATTCCGCAAAATAGAGCC	0.323000			Mis S		AML									39			27		0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15627587	15627587	+	Missense_Mutation	SNP	C	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr4:15627587C>A	uc003goc.2	-	8	1263	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	FBXL5_uc010idw.2_Missense_Mutation_p.G293C|FBXL5_uc003gob.2_Missense_Mutation_p.G242C|FBXL5_uc010idx.2_Missense_Mutation_p.G379C|FBXL5_uc003god.2_Missense_Mutation_p.G363C|FBXL5_uc010idy.2_Missense_Mutation_p.G380C	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	380					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGGCAGCAACCAAGCCAAGAC	0.373000														50			5		0.000274275	0.000283573	1	1	0
TTC7B	145567	broad.mit.edu	37	14	91044471	91044471	+	Silent	SNP	G	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr14:91044471G>A	uc001xyp.3	-	18	2411	c.2289C>T	c.(2287-2289)caC>caT	p.H763H	TTC7B_uc001xyo.3_Silent_p.H207H|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	763							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGCTCTTCACGTGGGTGGGGC	0.637000														40			33		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242950	21242950	+	Silent	SNP	A	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr12:21242950A>G	uc010sil.2	+	15	2222	c.2157A>G	c.(2155-2157)gtA>gtG	p.V719V	SLCO1B3_uc010sim.2_Silent_p.V658V|SLCO1B3_uc010sin.2_Silent_p.V611V			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	658					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATACCAAAGTATTAGAAAATG	0.328000														125			6		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64422451	64422451	+	Missense_Mutation	SNP	G	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:64422451G>T	uc002amv.3	+	9	1076	c.946G>T	c.(946-948)Gta>Tta	p.V316L	SNX1_uc010bgv.3_Missense_Mutation_p.V30L|SNX1_uc010uio.2_Missense_Mutation_p.V316L|SNX1_uc002amx.3_Missense_Mutation_p.V251L|SNX1_uc010bgw.3_Missense_Mutation_p.V218L	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	316	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCAGGAGGTAGAGTGTGA	0.438000														164			5		3.59834e-05	3.78446e-05	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62384061	62384061	+	Missense_Mutation	SNP	T	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:62384061T>C	uc002ygv.2	-	3	1577	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTTCATGTGCTCGCGCCGCGT	0.697000														17			3		0	0	1	0	0
SH2D6	284948	broad.mit.edu	37	2	85662144	85662144	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr2:85662144delA	uc002spq.3	+	0	227	c.66delA	c.(64-66)ccafs	p.P22fs	SH2D6_uc002spo.3_Intron|SH2D6_uc002spp.3_Intron	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.	22	Pro-rich.									central_nervous_system(1)|lung(2)	3						Gcccacccccaccccacccca	0.637													---	246	---	---	21	---					
ALS2CL	259173	broad.mit.edu	37	3	46728540	46728541	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:46728540_46728541insG	uc003cqa.2	-	4	659_660	c.466_467insC	c.(466-468)cagfs	p.Q156fs	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Frame_Shift_Ins_p.Q156fs	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	156					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCGAGTGGCTGGTGGAGGGCC	0.678													---	148	---	---	10	---					
WDR6	11180	broad.mit.edu	37	3	49049218	49049218	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:49049218delT	uc003cvj.2	+	1	479	c.341delT	c.(340-342)gtgfs	p.V114fs	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Frame_Shift_Del_p.V58fs|WDR6_uc011bbz.1_Frame_Shift_Del_p.V33fs	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	84					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGCCATGGTGGCTGTGTTT	0.552													---	291	---	---	7	---					
KIAA2018	205717	broad.mit.edu	37	3	113378994	113378995	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:113378994_113378995insG	uc003eam.3	-	6	1945_1946	c.1534_1535insC	c.(1534-1536)cagfs	p.Q512fs	KIAA2018_uc003eal.3_Frame_Shift_Ins_p.Q456fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	512					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACTTGTGGCTGGGCAATTAGT	0.441													---	186	---	---	8	---					
GFM1	85476	broad.mit.edu	37	3	158362472	158362473	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr3:158362472_158362473insC	uc003fce.3	+	0	156_157	c.49_50insC	c.(49-51)gccfs	p.A17fs	GFM1_uc003fcd.3_Frame_Shift_Ins_p.A17fs|GFM1_uc003fcg.3_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	17					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGAAGGGCCCCCGCCTCC	0.649											OREG0015898	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	182	---	---	8	---					
HLA-C	3107	broad.mit.edu	37	6	31324488	31324489	+	Frame_Shift_Ins	INS	-	GG	GG	rs3180380	byFrequency	TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr6:31324488_31324489insGG	uc003nth.2	-	1	373_374	c.319_320insCC	c.(319-321)ggcfs	p.G107fs	HLA-C_uc003ntf.2_Frame_Shift_Ins_p.G107fs|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_Frame_Shift_Ins_p.G79fs|HLA-C_uc021yum.1_Frame_Shift_Ins_p.G118fs	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	107	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTTGTAGTAGCCGCGCAGGTTC	0.683													---	4	---	---	2	---					
HIP1	3092	broad.mit.edu	37	7	75187548	75187549	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:75187548_75187549insT	uc003uds.2	-	14	1431_1432	c.1386_1387insA	c.(1384-1389)caagccfs	p.Q462fs	HIP1_uc011kfz.2_Frame_Shift_Ins_p.Q462fs	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	462	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTTCATTGGCTTGAGCTTTCC	0.535			T	PDGFRB	CMML								---	143	---	---	8	---					
NYAP1	222950	broad.mit.edu	37	7	100084672	100084673	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100084672_100084673insG	uc003uvd.1	+	2	456_457	c.297_298insG	c.(295-300)ggcgggfs	p.G99fs	NYAP1_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	99																	GTGGCCCTGGCGGGGCCAGTGG	0.723													---	92	---	---	7	---					
PCOLCE	5118	broad.mit.edu	37	7	100204166	100204166	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100204166delG	uc003uvo.3	+	5	1051	c.853delG	c.(853-855)ggcfs	p.G285fs	LOC100129845_uc011kjy.2_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	285					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAAGGGCCCGGCCCCAAACG	0.602													---	88	---	---	30	---					
ZAN	7455	broad.mit.edu	37	7	100349927	100349927	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349927delC	uc003uwj.3	+	13	2364	c.2199delC	c.(2197-2199)atcfs	p.I733fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.I733fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	733	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATCCACCATCTCCCCAGAAA	0.512													---	75	---	---	9	---					
ZAN	7455	broad.mit.edu	37	7	100349931	100349932	+	Frame_Shift_Ins	INS	-	T	T			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:100349931_100349932insT	uc003uwj.3	+	13	2368_2369	c.2203_2204insT	c.(2203-2205)ccafs	p.P735fs	ZAN_uc003uwk.3_Frame_Shift_Ins_p.P735fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	735	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACCC	0.515													---	78	---	---	8	---					
KRBA1	84626	broad.mit.edu	37	7	149430350	149430351	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr7:149430350_149430351insC	uc003wfz.3	+	17	2703_2704	c.2304_2305insC	c.(2302-2307)tctcccfs	p.S768fs	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Frame_Shift_Ins_p.S376fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	769	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGAGTCTCCCCCTCCGGA	0.653													---	178	---	---	7	---					
HR	55806	broad.mit.edu	37	8	21980059	21980060	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr8:21980059_21980060insG	uc003xas.3	-	7	2732_2733	c.2067_2068insC	c.(2065-2070)cactgcfs	p.H689fs	HR_uc003xat.3_Frame_Shift_Ins_p.H689fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	689							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGCAGGGGCAGTGCCCCCGGA	0.639													---	181	---	---	7	---					
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:970195delA	uc001lst.2	+	2	376	c.163delA	c.(163-165)aaafs	p.K55fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K55fs|AP2A2_uc001lsu.1_5'Flank	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	55	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488													---	281	---	---	7	---					
NUP98	4928	broad.mit.edu	37	11	3793077	3793078	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:3793077_3793078insA	uc001lyh.3	-	6	1105_1106	c.684_685insT	c.(682-687)tttgggfs	p.F228fs	NUP98_uc001lyi.3_Frame_Shift_Ins_p.F228fs|NUP98_uc001lyj.2_Frame_Shift_Ins_p.F228fs|NUP98_uc001lyk.2_Frame_Shift_Ins_p.F228fs|NUP98_uc010qxv.2_Frame_Shift_Ins_p.F191fs	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	228	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGAAGACCCAAACAAGCCAG	0.500			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								---	167	---	---	8	---					
SLC35F2	54733	broad.mit.edu	37	11	107676203	107676204	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:107676203_107676204insA	uc001pjq.3	-	4	1033_1034	c.612_613insT	c.(610-615)cttgggfs	p.L204fs	SLC35F2_uc010rvu.2_Frame_Shift_Ins_p.L56fs|SLC35F2_uc001pjs.3_3'UTR	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	204					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		AGGGAAGCCCCAAGAAGGACCA	0.465													---	129	---	---	7	---					
EXPH5	23086	broad.mit.edu	37	11	108381019	108381020	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:108381019_108381020insG	uc001pkk.3	-	5	5325_5326	c.5214_5215insC	c.(5212-5217)accagcfs	p.T1738fs	EXPH5_uc010rvz.2_Frame_Shift_Ins_p.T1582fs|EXPH5_uc010rvy.2_Frame_Shift_Ins_p.T1550fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1738					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCCTGAGGCTGGTGAATGTGA	0.490													---	341	---	---	7	---					
POU2F3	25833	broad.mit.edu	37	11	120173026	120173026	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:120173026delG	uc021qrk.1	+	5	433	c.399delG	c.(397-399)cagfs	p.Q133fs	POU2F3_uc001pxc.3_Frame_Shift_Del_p.Q131fs|POU2F3_uc010rzk.2_Frame_Shift_Del_p.Q85fs|POU2F3_uc010rzl.2_Frame_Shift_Del_p.Q61fs	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	131					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCTTTCCACAGCAACAAAGCG	0.512											OREG0021420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	196	---	---	8	---					
ST14	6768	broad.mit.edu	37	11	130079400	130079401	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr11:130079400_130079401insC	uc001qfw.3	+	17	2526_2527	c.2333_2334insC	c.(2332-2334)aacfs	p.N778fs		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	778	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ACCTGCGAGAACCTCCTGCCGC	0.698													---	111	---	---	7	---					
GOLGA8A	23015	broad.mit.edu	37	15	34678927	34678927	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:34678927delA	uc001zii.3	-	2	293	c.184delT	c.(184-186)tccfs	p.S62fs	GOLGA8A_uc001zih.3_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	Homo sapiens golgin A8 family, member A (GOLGA8A), transcript variant 1, mRNA.	90						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGCAGAGAGGAGGAGGCGGAG	0.567													---	564	---	---	8	---					
FSIP1	161835	broad.mit.edu	37	15	40056059	40056059	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:40056059delT	uc001zki.3	-	4	740	c.522delA	c.(520-522)aaafs	p.K174fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	174										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAGATAAAAATTTTTTTGTAT	0.308													---	492	---	---	7	---					
MAP1A	4130	broad.mit.edu	37	15	43821988	43821989	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr15:43821988_43821989insC	uc001zrt.3	+	4	8643_8644	c.8176_8177insC	c.(8176-8178)gacfs	p.D2726fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2726						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGTGGGAATGACCCTGCCAAT	0.574													---	75	---	---	10	---					
MMP15	4324	broad.mit.edu	37	16	58075623	58075624	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075623_58075624delCA	uc002ena.3	+	5	1986_1987	c.1013_1014delCA	c.(1012-1014)ccafs	p.P338fs		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	338	Poly-Pro.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCAGCCACCACCCCCAGGTG	0.743													---	8	---	---	4	---					
MMP15	4324	broad.mit.edu	37	16	58075631	58075631	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr16:58075631delG	uc002ena.3	+	5	1994	c.1021delG	c.(1021-1023)ggtfs	p.G341fs		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	341					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCACCCCCAGGTGGGAAGCC	0.741													---	9	---	---	4	---					
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr17:7579716delG	uc002gim.2	-	2	274	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_uc002gig.1_Frame_Shift_Del_p.P27fs|TP53_uc002gih.3_Frame_Shift_Del_p.P27fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.P27fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P27fs|TP53_uc002gij.2_Frame_Shift_Del_p.P27fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Frame_Shift_Del_p.P27fs|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P42fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	27	Interaction with HRMT1L2.|Transcription activation (acidic).				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P27fs*17(8)|p.0?(8)|p.L26fs*11(2)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTGTTTTCAGGAAGTCTGAA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	26	---	---	56	---					
ZNF516	9658	broad.mit.edu	37	18	74153725	74153726	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr18:74153725_74153726insC	uc021ulp.1	-	2	1603_1604	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTCGGCCGGCTCGGCCACCTTA	0.713													---	4	---	---	2	---					
PLEKHA4	57664	broad.mit.edu	37	19	49340604	49340605	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr19:49340604_49340605insG	uc002pkx.3	-	19	2832_2833	c.2281_2282insC	c.(2281-2283)ctgfs	p.L761fs	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc010eml.3_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	761						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCTTGTGGCAGGACCGGAGGG	0.663													---	124	---	---	12	---					
FERMT1	55612	broad.mit.edu	37	20	6091014	6091015	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:6091014_6091015insG	uc002wmr.3	-	4	1465_1466	c.676_677insC	c.(676-678)cagfs	p.Q226fs	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Frame_Shift_Ins_p.Q226fs|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	226	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTGG	0.530													---	200	---	---	8	---					
RBBP9	10741	broad.mit.edu	37	20	18477730	18477731	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:18477730_18477731insC	uc002wqy.3	-	0	157_158	c.81_82insG	c.(79-84)gtgaaafs	p.V27fs		NM_006606	NP_006597	O75884	RBBP9_HUMAN	Homo sapiens retinoblastoma binding protein 9 (RBBP9), mRNA.	27						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						AGCTCCTTTTTCACCCAGCCAT	0.609													---	43	---	---	8	---					
PREX1	57580	broad.mit.edu	37	20	47307517	47307518	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr20:47307517_47307518insC	uc002xtw.1	-	8	1176_1177	c.1153_1154insG	c.(1153-1155)gatfs	p.D385fs		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	385	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATGATGGCATCCAGCCACTTC	0.599													---	182	---	---	8	---					
RHBDD3	25807	broad.mit.edu	37	22	29661514	29661515	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chr22:29661514_29661515insC	uc003aeq.1	-	2	473_474	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_uc003aes.4_5'Flank|EWSR1_uc003aev.3_5'Flank|EWSR1_uc003aet.3_5'Flank|EWSR1_uc003aex.3_5'Flank|EWSR1_uc003aew.3_5'Flank	NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	34						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCAGGCCGGGGCCGGCCCCCAC	0.683													---	247	---	---	12	---					
ATRX	546	broad.mit.edu	37	X	76937378	76937378	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:76937378delA	uc004ecp.4	-	8	3602	c.3370delT	c.(3370-3372)tctfs	p.S1124fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S1086fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S909fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.S1056fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.S1095fs|ATRX_uc010nly.1_Frame_Shift_Del_p.S1069fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1124					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTATCAGAAGAGTTACAACCA	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	28	---	---	11	---					
SYTL4	94121	broad.mit.edu	37	X	99942167	99942168	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:99942167_99942168insA	uc004egd.4	-	12	1436_1437	c.1080_1081insT	c.(1078-1083)attgccfs	p.I360fs	SYTL4_uc010nnb.3_Frame_Shift_Ins_p.I32fs|SYTL4_uc010nnc.3_Frame_Shift_Ins_p.I360fs|SYTL4_uc004ege.4_Frame_Shift_Ins_p.I360fs|SYTL4_uc004egf.4_Frame_Shift_Ins_p.I360fs|SYTL4_uc004egg.4_3'UTR	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	360	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGAAAAGGCAATCCTGCCAG	0.495													---	174	---	---	7	---					
NXF4	55999	broad.mit.edu	37	X	101818923	101818924	+	RNA	INS	-	G	G			TCGA-KO-8408-01A-11D-2310-10	TCGA-KO-8408-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61026c67-aa07-4509-b221-ca1f26ffead1	759ed56f-0af5-46be-a93c-934e2863a5dd	g.chrX:101818923_101818924insG	uc004ejf.1	+	8		c.1207_1208insG								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						GAGCTATGGCTGGAAGGGAACT	0.559													---	408	---	---	7	---					
