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
ANKRD20A2	441430	broad.mit.edu	37	2	95522747	95522747	+	RNA	SNP	C	G	G	rs10874467	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:95522747C>G	uc010fhp.3	-	0		c.74G>C						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GGTCTCCGCTCCTGCGCGCCA	0.706000														346			8		0	0	0.003080	0	0
PRB3	5544	broad.mit.edu	37	12	11420480	11420480	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:11420480T>G	uc001qzs.3	-	2	741	c.703A>C	c.(703-705)Aaa>Caa	p.K235Q	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	235	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTTGAGGTTTGTTGCCTCCT	0.617000														67			4		0	0	0.004482	0	0
PCDH15	65217	broad.mit.edu	37	10	55566772	55566772	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:55566772C>A	uc010qhq.2	-	34	5005	c.4610G>T	c.(4609-4611)aGt>aTt	p.S1537I	PCDH15_uc010qhr.2_Missense_Mutation_p.S1532I	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1538N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATATTACTGTGGATACT	0.453000										HNSCC(58;0.16)				242			23		1.10923e-09	1.18197e-09	0.002780	1	0
AL117485	0	broad.mit.edu	37	22	18844790	18844790	+	RNA	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:18844790C>T	uc002zoe.3	+	3		c.2044C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GTGGAGGAGACGTCTCCCATG	0.577000														77			4		0	0	0.001984	0	0
C8orf34	116328	broad.mit.edu	37	8	69380960	69380960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:69380960G>A	uc010lyz.3	+	3	932	c.641G>A	c.(640-642)tGg>tAg	p.W214*	C8orf34_uc010lyy.2_Nonsense_Mutation_p.W214*|C8orf34_uc003xyb.3_Nonsense_Mutation_p.W103*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	128					signal transduction		cAMP-dependent protein kinase regulator activity	p.Q214L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGTGGAACTGGAGGACTAAA	0.398000														365			8		0	0	0.008291	0	0
ODZ3	55714	broad.mit.edu	37	4	183696229	183696229	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:183696229G>A	uc003ivd.1	+	22	5302	c.5227G>A	c.(5227-5229)Ggt>Agt	p.G1743S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1743					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGGCGAGAACGGTCAAAACTT	0.537000														315			86		0	0	0.003610	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887348	179887348	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:179887348G>A	uc001gnq.3	+	9	1944	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	576						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCTGAAAATGCCCTGAAAAG	0.428000														270			65		0	0	0.003610	0	0
CLDN17	26285	broad.mit.edu	37	21	31538770	31538770	+	Nonsense_Mutation	SNP	G	A	A	rs148594408		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:31538770G>A	uc011acv.2	-	0	202	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	56					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R56*(2)|p.R56Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTGGCTTGTCGGATGCAATTC	0.547000														505			9		0	0	0.000978	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497636	1497636	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:1497636C>T	uc003wpl.3	+	1	874	c.777C>T	c.(775-777)tcC>tcT	p.S259S	DLGAP2_uc003wpm.3_Silent_p.S259S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	338					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGACCTGTCCCTCAAGACCT	0.662000														501			13		0	0	0.001368	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245551	94245551	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94245551G>A	uc001ybw.1	-	2	242	c.200C>T	c.(199-201)cCg>cTg	p.P67L	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	67	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		gggaggtggcgggggtggggg	0.632000														72			10		0	0	0.008291	0	0
STAU2	27067	broad.mit.edu	37	8	74516052	74516052	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:74516052G>A	uc003xzm.3	-	9	1279	c.938C>T	c.(937-939)gCg>gTg	p.A313V	STAU2_uc011lfh.2_Missense_Mutation_p.A209V|STAU2_uc003xzn.3_Missense_Mutation_p.A281V|STAU2_uc011lfg.2_Missense_Mutation_p.A141V|STAU2_uc003xzo.3_Missense_Mutation_p.A313V|STAU2_uc003xzq.3_Missense_Mutation_p.A93V|STAU2_uc003xzp.3_Missense_Mutation_p.A281V|STAU2_uc011lfi.2_Missense_Mutation_p.A275V|STAU2_uc010lzk.3_Missense_Mutation_p.A281V|STAU2_uc010lzl.1_Missense_Mutation_p.A141V	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	313	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTGAATTTGCGCCAGGCGGCT	0.403000														271			86		0	0	0.003610	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971299	45971299	+	Missense_Mutation	SNP	T	C	C	rs233240	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:45971299T>C	uc002zfi.1	-	0	90	c.43A>G	c.(43-45)Aac>Gac	p.N15D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	15			N -> D (in dbSNP:rs233240).			keratin filament		p.N15D(2)		large_intestine(1)|lung(4)|skin(1)	6						TGCCAGGAGTTGGTGCAGGCG	0.667000														710			18		0	0	0.006122	0	0
TCTE1	202500	broad.mit.edu	37	6	44255545	44255545	+	Silent	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:44255545C>A	uc003oxi.2	-	1	174	c.18G>T	c.(16-18)acG>acT	p.T6T	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	6								p.V5I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGCTGATGTCGTTACGGTAT	0.562000														251			10		7.48243e-07	7.80253e-07	0.006214	1	0
AK301679	0	broad.mit.edu	37	17	18343498	18343498	+	RNA	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:18343498C>A	uc010vya.1	+	0		c.277C>A								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		GGCTGGGGGGCGGCTATGGCG	0.672000														18			4		2.98522e-18	3.27032e-18	0.003163	1	0
KIAA0317	9870	broad.mit.edu	37	14	75136745	75136745	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:75136745C>G	uc001xqb.3	-	13	2198	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	KIAA0317_uc010tut.1_Missense_Mutation_p.E404Q	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	565	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AGAGAGGACTCATAGAGACAC	0.537000														645			58		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21238344	21238344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:21238344C>A	uc002red.3	-	21	3534	c.3406G>T	c.(3406-3408)Gag>Tag	p.E1136*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCGAGGATCTCACTTCTGGCT	0.473000														481			35		1.08052e-11	1.17056e-11	0.004289	1	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														65			3		0	0	0.004482	0	0
USP10	9100	broad.mit.edu	37	16	84812641	84812641	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:84812641G>A	uc010voe.2	+	14	2613	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP10_uc002fii.3_Missense_Mutation_p.E784K|USP10_uc010vof.2_Missense_Mutation_p.E346K|USP10_uc002fij.3_Missense_Mutation_p.E310K	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	784					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAACTGCTGAACGCACAGC	0.572000														472			27		0	0	0.006230	0	0
BC067347	0	broad.mit.edu	37	17	20744647	20744647	+	RNA	SNP	A	C	C	rs9906720	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:20744647A>C	uc010crb.2	+	0		c.307A>C								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		CAAGAGCGCCAGCGGCAACCG	0.632000														496			14		0	0	0.007413	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	C	C	rs148060711	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000														353			10		0	0	0.010504	0	0
LOC150776	150776	broad.mit.edu	37	2	132277686	132277686	+	Missense_Mutation	SNP	C	T	T	rs9287520	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:132277686C>T	uc002tsz.3	+	2	713	c.266C>T	c.(265-267)gCg>gTg	p.A89V	LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		GGACAGATGGCGGCTCTGTGT	0.647000														155			5		0	0	0.000602	0	0
EXD2	55218	broad.mit.edu	37	14	69704529	69704529	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:69704529C>T	uc001xky.3	+	8	1776	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	EXD2_uc001xkt.3_Silent_p.L385L|EXD2_uc001xkv.3_Silent_p.L510L|EXD2_uc001xkw.3_Silent_p.L385L|EXD2_uc001xku.3_Silent_p.L255L|EXD2_uc001xkx.3_Silent_p.L385L|EXD2_uc010aqt.3_Silent_p.L510L|EXD2_uc010tte.2_Silent_p.L510L	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	385					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCCCTGCTCAACGCGGAGA	0.612000														159			11		0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55541791	55541791	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:55541791A>G	uc003xsd.1	+	3	5497	c.5349A>G	c.(5347-5349)gtA>gtG	p.V1783V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1783					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGTGAGGTACCATATTCAC	0.443000														262			12		0	0	0.001855	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														284			7		0	0	0.008291	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62996	62996	+	RNA	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:62996A>G	uc010bqm.2	+	2		c.558A>G								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		TGTTGGCCTGAATCTGAGCCC	0.567000														65			4		0	0	0.009096	0	0
WASH3P	374666	broad.mit.edu	37	15	102515344	102515344	+	Missense_Mutation	SNP	A	C	C	rs141089280	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:102515344A>C	uc002cdi.3	+	8	1988	c.568A>C	c.(568-570)Aag>Cag	p.K190Q	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTGGAGAAGAAGCAGCAGAA	0.662000														119			6		0	0	0.003080	0	0
MAGEF1	64110	broad.mit.edu	37	3	184429428	184429428	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:184429428G>T	uc003fpa.3	-	0	409	c.182C>A	c.(181-183)gCc>gAc	p.A61D		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Homo sapiens melanoma antigen family F, 1 (MAGEF1), mRNA.	61										breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GGCCGCCAAGGCCCTCGCGCC	0.706000														531			39		4.2857e-05	4.42175e-05	0.006999	1	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														311			11		0	0	0.008291	0	0
ZNF491	126069	broad.mit.edu	37	19	11917498	11917498	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11917498G>T	uc002mso.1	+	2	1015	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF491_uc021upj.1_Nonsense_Mutation_p.E244*	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAAACCCTATGAATGTAAACT	0.418000														320			11		3.86212e-05	4.00592e-05	0.008291	1	0
ERBB4	2066	broad.mit.edu	37	2	212578361	212578361	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:212578361A>T	uc002veg.1	-	7	994	c.896T>A	c.(895-897)gTa>gAa	p.V299E	ERBB4_uc002veh.1_Missense_Mutation_p.V299E|ERBB4_uc010zji.1_Missense_Mutation_p.V299E|ERBB4_uc010zjj.1_Missense_Mutation_p.V299E|ERBB4_uc010fut.1_Missense_Mutation_p.V299E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	299	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTGGAATCTACCACAAAGTT	0.328000										TSP Lung(8;0.080)				210			37		0	0	0.006230	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123432	66123432	+	RNA	SNP	T	G	G	rs8064704	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:66123432T>G	uc002jgq.3	+	5		c.2555T>G								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TGGAATGTACTACTCGTTTAG	0.363000														122			4		0	0	0.009096	0	0
AK302306	0	broad.mit.edu	37	15	28599954	28599954	+	Silent	SNP	A	G	G	rs144345425	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:28599954A>G	uc010uaf.1	-	3	306	c.288T>C	c.(286-288)ctT>ctC	p.L96L	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		GGCTGTAGTAAAGTGCCATCT	0.478000														258			6		0	0	0.008291	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66122977	66122977	+	RNA	SNP	C	A	A	rs62085700	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:66122977C>A	uc002jgq.3	+	5		c.2100C>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TCAGTGCCCACGTTGTTGTAT	0.463000														571			16		3.41278e-10	3.67675e-10	0.004990	1	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:2062350C>G	uc001qjx.1	-	6	836	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(16)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000														360			12		0	0	0.001855	0	0
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219029412G>A	uc021vwq.1	-	0	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	CXCR1_uc002vhc.3_Missense_Mutation_p.R175C|HV303425_uc021vwr.1_Non-coding_Transcript	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	175					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R175C(2)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TAAGCCTGGCGGAAAAGGAAG	0.522000														288			25		0	0	0.004656	0	0
RNF182	221687	broad.mit.edu	37	6	13977539	13977539	+	Silent	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:13977539C>G	uc021ylw.1	+	2	682	c.189C>G	c.(187-189)gtC>gtG	p.V63V	RNF182_uc021ylx.1_Silent_p.V63V|RNF182_uc003nbe.3_Silent_p.V63V|RNF182_uc003nbf.3_Silent_p.V63V|RNF182_uc003nbg.3_Silent_p.V63V|RNF182_uc021yly.1_Silent_p.V63V	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	63						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTCATTGTCTGTCCTTTCT	0.478000														761			152		0	0	0.003610	0	0
SEC31B	25956	broad.mit.edu	37	10	102249858	102249858	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102249858G>A	uc001krc.1	-	20	2974	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S	SEC31B_uc010qpo.1_Missense_Mutation_p.P957S|SEC31B_uc001krd.1_Missense_Mutation_p.P495S|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	958	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGCTTGCAGGAGGGGCTGGG	0.617000														450			102		0	0	0.003610	0	0
MCM2	4171	broad.mit.edu	37	3	127325137	127325137	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:127325137C>T	uc003ejp.3	+	4	907	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	MCM2_uc011bkm.2_Missense_Mutation_p.R154C|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.R168C	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	284					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATCCATGTCCGCATCTCCCA	0.632000														614			234		0	0	0.003610	0	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	G	G	rs17851045		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:25380275T>G	uc001rgp.1	-	2	364	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(361)|p.Q61L(71)|p.Q61R(56)|p.Q61K(32)|p.Q61P(12)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				282			103		0	0	0.003610	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805805	77805805	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:77805805G>A	uc003kfo.3	-	3	908	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	78						integral to membrane		p.R78L(1)		endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AGCGTGTCCCGCTGGAAGTGC	0.687000														128			28		0	0	0.006320	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318768	21318768	+	Silent	SNP	G	A	A	rs139060766		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:21318768G>A	uc021tss.1	+	2	484	c.114G>A	c.(112-114)acG>acA	p.T38T	KCNJ18_uc002gyv.1_Silent_p.T38T|KCNJ18_uc021tst.1_Silent_p.T38T	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	38						integral to membrane	inward rectifier potassium channel activity										AGGTGCACACGCGGCGCAGGT	0.622000														288			24		0	0	0.002299	0	0
LPAL2	80350	broad.mit.edu	37	6	160887991	160887991	+	RNA	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:160887991C>G	uc003qtj.2	-	9		c.1564G>C								Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGCGTGGCGTCCCAGTAACAG	0.478000														380			21		0	0	0.001882	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409639	22409639	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:22409639G>A	uc021rpl.1	+	1	172	c.129G>A	c.(127-129)acG>acA	p.T43T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.T43T					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		TAAACTGCACGTACACAGCCA	0.488000														182			49		0	0	0.003610	0	0
ANKRD36	375248	broad.mit.edu	37	2	97854837	97854837	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:97854837G>A	uc010yva.2	+	32	2401	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Intron|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	719										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTCTCAGAAGCAACCAGCCT	0.308000														86			5		0	0	0.001168	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000														112			7		0	0	0.004482	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														33			12		0	0	0.007413	0	0
LOC650368	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:3427885A>G	uc010qxs.1	+	8		c.878A>G			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		AGCTTCACAGATCCACCGCTG	0.587000														163			6		0	0	0.003080	0	0
NFAM1	150372	broad.mit.edu	37	22	42781196	42781196	+	Missense_Mutation	SNP	C	T	T	rs145224229		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42781196C>T	uc003bcn.4	-	5	822	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	262					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						AGGTTAAGTTCGCCATCATCT	0.502000														876			40		0	0	0.008740	0	0
ACE	1636	broad.mit.edu	37	17	61561229	61561229	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:61561229C>G	uc002jau.2	+	10	1640	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	ACE_uc010ddu.2_Missense_Mutation_p.L353V|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	536	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGTTTTGTCCTGCAGTTCCA	0.592000														542			138		0	0	0.003610	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	A	A	rs142860004	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:25168489G>A	uc001upm.3	+	9		c.1161G>A			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAAGTGCAGTTTTTCTCTT	0.363000														205			5		0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10358056	10358056	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:10358056A>G	uc002gmn.3	-	21	2618	c.2507T>C	c.(2506-2508)cTg>cCg	p.L836P	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	836					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAAATACAGCTTCATCCA	0.438000														424			100		0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152277100	152277100	+	Missense_Mutation	SNP	C	T	T	rs139262132	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:152277100C>T	uc001ezu.1	-	2	10298	c.10262G>A	c.(10261-10263)aGc>aAc	p.S3421N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3421	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGGAGCTGTCTCGTGC	0.597000									Ichthyosis					617			12		0	0	0.006122	0	0
ENY2	56943	broad.mit.edu	37	8	110348356	110348356	+	Splice_Site	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:110348356G>A	uc003ynd.3	+	2	153	c.7_splice	c.e2-1	p.V3_splice	NUDCD1_uc003ynb.4_5'Flank|NUDCD1_uc010mcl.3_5'Flank|ENY2_uc003ync.3_Splice_Site|ENY2_uc022azt.1_Splice_Site|ENY2_uc022azu.1_Splice_Site	NM_020189	NP_001180486	Q9NPA8	ENY2_HUMAN	Homo sapiens enhancer of yellow 2 homolog (Drosophila) (ENY2), transcript variant 1, mRNA.	3					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTGATGTCCAGGTTAGCAAGA	0.363000														169			31		0	0	0.002096	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299205	117299205	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:117299205C>T	uc001prh.1	-	32	6183	c.6181G>A	c.(6181-6183)Gct>Act	p.A2061T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	2001					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGAGGGGCAGCGCTGGGGGCG	0.731000														87			11		0	0	0.000978	0	0
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:52942354A>G	uc002pzk.3	+	3	1747	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433000														67			3		0	0	0.004672	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	T	T	rs117285325	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:78290635C>T	uc002bcy.4	-	12	2759	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_uc010bla.3_Missense_Mutation_p.D903N	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	920						intracellular	Rab GTPase activator activity|protein binding	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000														108			10		0	0	0.003330	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468054	66468054	+	Silent	SNP	G	A	A	rs149829140	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66468054G>A	uc001ojd.3	-	15	3588	c.3516C>T	c.(3514-3516)caC>caT	p.H1172H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1172					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGAAGCCGTGGGCCTGGG	0.647000														367			10		0	0	0.000978	0	0
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:240371421C>T	uc010pye.2	+	5	3546	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	FMN2_uc010pyd.2_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736000														422			9		0	0	0.008291	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:203821508C>G	uc001hac.3	+	19	3030	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_uc001had.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc001hae.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc001haf.3_Nonsense_Mutation_p.S805*|ZC3H11A_uc010pqm.2_Nonsense_Mutation_p.S751*	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(6)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000														279			6		0	0	0.001168	0	0
ODF1	4956	broad.mit.edu	37	8	103564103	103564103	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:103564103C>A	uc003ykt.2	+	0	256	c.148C>A	c.(148-150)Cac>Aac	p.H50N		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	50	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGACTTGCACCCATATCC	0.493000														856			53		4.13886e-29	4.69231e-29	0.003610	1	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	T	T	rs11575997		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7576852C>T	uc002gim.2	-	9	1187	c.993_splice	c.e9+1	p.Q331_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.Q331_splice|TP53_uc010cne.1_Intron|TP53_uc010cng.1_Splice_Site_p.Q199_splice|TP53_uc010cnf.1_Splice_Site_p.Q199_splice|TP53_uc002gii.1_Splice_Site_p.Q199_splice|TP53_uc010cni.1_Splice_Site_p.Q331_splice|TP53_uc010cnh.1_Splice_Site_p.Q331_splice|TP53_uc002gij.2_Splice_Site_p.Q331_splice|DL476313_uc021tpe.1_5'Flank|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; 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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)				297			57		0	0	0.003610	0	0
TLR4	7099	broad.mit.edu	37	9	120475078	120475078	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:120475078A>G	uc004bjz.3	+	2	963	c.672A>G	c.(670-672)aaA>aaG	p.K224K	TLR4_uc004bkb.3_Silent_p.K24K|TLR4_uc004bka.3_Silent_p.K184K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	224					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGCATTTAAAGAAATTAGGC	0.373000														342			37		0	0	0.004289	0	0
PTCH2	8643	broad.mit.edu	37	1	45294923	45294923	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:45294923C>T	uc010olf.2	-	9	1289	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PTCH2_uc021omv.1_Missense_Mutation_p.G426D|PTCH2_uc010olg.2_Missense_Mutation_p.G125D	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	426	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCGGCAAGGCCCACGGAACC	0.677000									Basal Cell Nevus syndrome					224			62		0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5219432	5219432	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5219432G>A	uc002mbv.3	-	22	4046	c.3812C>T	c.(3811-3813)cCg>cTg	p.P1271L	PTPRS_uc002mbu.1_Missense_Mutation_p.P840L|PTPRS_uc010xin.2_Missense_Mutation_p.P840L|PTPRS_uc002mbw.3_Missense_Mutation_p.P1249L|PTPRS_uc002mbx.3_Missense_Mutation_p.P844L|PTPRS_uc002mby.3_Missense_Mutation_p.P840L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1271					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGGGGTCCGGGTTATCCAG	0.592000														389			83		0	0	0.003610	0	0
TTI1	9675	broad.mit.edu	37	20	36641253	36641253	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:36641253A>C	uc002xhl.3	-	2	1175	c.966T>G	c.(964-966)agT>agG	p.S322R	TTI1_uc002xhm.3_Missense_Mutation_p.S322R	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	322							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCAATGATTGACTGCACTTCA	0.438000														629			241		0	0	0.003610	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														138			6		0	0	0.004482	0	0
OR4S1	256148	broad.mit.edu	37	11	48328426	48328426	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:48328426A>G	uc010rhu.2	+	0	652	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTATGTTATCATCTTACT	0.468000														627			73		0	0	0.003610	0	0
MIB2	142678	broad.mit.edu	37	1	1565062	1565062	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:1565062C>T	uc001agg.3	+	18	2997	c.2952C>T	c.(2950-2952)gtC>gtT	p.V984V	MIB2_uc001agh.3_Silent_p.V970V|MIB2_uc001agi.3_Silent_p.V980V|MIB2_uc001agj.3_Silent_p.V768V|MIB2_uc001agk.3_Silent_p.V919V|MIB2_uc001agm.3_Missense_Mutation_p.R744C|MIB2_uc010nyq.2_Silent_p.V883V|MIB2_uc009vkh.3_Silent_p.V733V|MIB2_uc001agn.3_Silent_p.V559V|MIB2_uc001ago.3_Silent_p.V10V|MMP23B_uc001agp.3_5'Flank|MMP23B_uc001agq.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	927					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGTGGTCGTCAGCAAGA	0.697000														135			29		0	0	0.004289	0	0
ZFHX3	463	broad.mit.edu	37	16	72923765	72923765	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72923765G>A	uc002fck.3	-	3	3986	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	ZFHX3_uc002fcl.3_Nonsense_Mutation_p.Q191*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1105					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCACATGCTGGATGAGGTTG	0.592000														293			44		0	0	0.003214	0	0
ASTN1	460	broad.mit.edu	37	1	177001821	177001821	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:177001821G>A	uc001glc.3	-	2	848	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_uc001glb.1_Silent_p.H212H|ASTN1_uc001gld.1_Silent_p.H212H|ASTN1_uc009wwx.1_Silent_p.H212H|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	212					cell migration|neuron cell-cell adhesion	integral to membrane		p.G211R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCGTCCGTGCCCGCCGA	0.627000														389			44		0	0	0.009718	0	0
ZFAT	57623	broad.mit.edu	37	8	135545161	135545161	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:135545161G>A	uc003yup.3	-	11	3217	c.3031C>T	c.(3031-3033)Cgg>Tgg	p.R1011W	ZFAT_uc011ljj.2_Missense_Mutation_p.R130W|ZFAT_uc003yun.3_Missense_Mutation_p.R999W|ZFAT_uc003yuo.3_Missense_Mutation_p.R999W|ZFAT_uc010meh.3_Missense_Mutation_p.R999W|ZFAT_uc010mej.3_Missense_Mutation_p.R949W|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.R999W	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGTAGTGCCGCTTCAGAGAG	0.592000														58			3		0	0	0.009096	0	0
AHR	196	broad.mit.edu	37	7	17378954	17378954	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:17378954C>A	uc011jxz.1	+	9	2118	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	502					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P502L(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AATACTGCACCGATGGGAAAT	0.403000														638			150		2.96194e-67	3.39752e-67	0.003610	1	0
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:71252834C>T	uc003twb.4	-	6	1103	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_uc003twa.4_Missense_Mutation_p.A196T|CALN1_uc003twc.4_Missense_Mutation_p.A196T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567000														438			26		0	0	0.005443	0	0
PPIL1	51645	broad.mit.edu	37	6	36824364	36824364	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36824364G>A	uc003omu.2	-	2	530	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	93	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACACTTACCCGTGAATTTCAA	0.463000														245			69		0	0	0.003610	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:24993374C>A	uc001bjm.3	+	12	1921	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_uc010oel.2_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.P566H(4)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000														337			11		3.03874e-20	3.36679e-20	0.003271	1	0
BCRP3	644165	broad.mit.edu	37	22	25045855	25045855	+	Silent	SNP	G	A	A	rs738818	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:25045855G>A	uc011ajv.2	+	5	936	c.579G>A	c.(577-579)agG>agA	p.R193R	POM121L10P_uc003abc.2_Intron					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		GGTCAATAAGGTGTCCCTGCA	0.632000														95			8		0	0	0.006214	0	0
NPY5R	4889	broad.mit.edu	37	4	164272416	164272416	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:164272416C>A	uc003iqn.3	+	3	1173	c.991C>A	c.(991-993)Cca>Aca	p.P331T	NPY5R_uc021xtw.1_Missense_Mutation_p.P331T	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	331					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAGTTCATACCAGGGGTCCC	0.403000														245			80		4.8811e-34	5.56616e-34	0.003610	1	0
OR10G9	219870	broad.mit.edu	37	11	123894473	123894473	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:123894473G>A	uc010sad.2	+	0	754	c.754G>A	c.(754-756)Gtt>Att	p.V252I		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGCTTTTTTGTTCCCTGTGT	0.542000														575			119		0	0	0.003610	0	0
GJC3	349149	broad.mit.edu	37	7	99527179	99527179	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99527179C>T	uc011kjd.2	-	0	65	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	22						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGCAAGAGGCGCCCCACGGG	0.622000														223			14		0	0	0.003163	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092258	151092258	+	Missense_Mutation	SNP	C	T	T	rs41302158	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:151092258C>T	uc022cgv.1	+	0	122	c.122C>T	c.(121-123)tCc>tTc	p.S41F	MAGEA4_uc004fez.3_Missense_Mutation_p.S41F|MAGEA4_uc004ffa.3_Missense_Mutation_p.S41F|MAGEA4_uc004ffb.3_Missense_Mutation_p.S41F|MAGEA4_uc022cgu.1_Missense_Mutation_p.S69F|MAGEA4_uc004ffc.3_Missense_Mutation_p.S41F|MAGEA4_uc004ffd.3_Missense_Mutation_p.S41F	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	41	Poly-Ser.						protein binding	p.S44delS(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCTGTCTCCTCCTCCTCT	0.637000														277			7		0	0	0.001984	0	0
DENND5A	23258	broad.mit.edu	37	11	9166560	9166560	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:9166560A>G	uc001mhl.3	-	17	3361	c.3104T>C	c.(3103-3105)aTc>aCc	p.I1035T	DENND5A_uc001mhk.3_Missense_Mutation_p.I378T|DENND5A_uc010rbw.2_Missense_Mutation_p.I1035T	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1035	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTCCTGTGATCTCATTCCT	0.493000														715			132		0	0	0.003610	0	0
VCX	26609	broad.mit.edu	37	X	7812055	7812055	+	Nonstop_Mutation	SNP	T	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:7812055T>A	uc004crz.3	+	2	838	c.619T>A	c.(619-621)Tag>Aag	p.*207K		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	0					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCGAGTGTGTAGACGGCCAA	0.572000														261			10		0	0	0.000978	0	0
WNK4	65266	broad.mit.edu	37	17	40940393	40940393	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:40940393C>T	uc002ibj.3	+	9	2076	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	WNK4_uc010wgx.2_Missense_Mutation_p.R334C|WNK4_uc002ibk.1_Missense_Mutation_p.R442C|WNK4_uc010wgy.1_Missense_Mutation_p.R14C	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	670					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAATCTCCGGCGCAGACCCCG	0.577000														239			55		0	0	0.003610	0	0
DAAM1	23002	broad.mit.edu	37	14	59820665	59820665	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59820665T>C	uc001xdz.1	+	19	2494	c.2369T>C	c.(2368-2370)gTg>gCg	p.V790A	DAAM1_uc001xea.1_Missense_Mutation_p.V780A|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	790	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGCAGAAGTGAAACCTAAA	0.363000														169			44		0	0	0.003610	0	0
DYRK1A	1859	broad.mit.edu	37	21	38868512	38868512	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:38868512G>T	uc002ywk.3	+	7	1267	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	DYRK1A_uc002ywi.3_Missense_Mutation_p.K397N|DYRK1A_uc002ywj.3_Missense_Mutation_p.K388N|DYRK1A_uc002ywm.3_Missense_Mutation_p.K397N|DYRK1A_uc011aei.2_Missense_Mutation_p.K158N	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	397	Protein kinase.			K -> N (in Ref. 1; AAC50939).	nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCTTTGAGAAGTTGCCAGATG	0.353000														233			31		9.17885e-22	1.02279e-21	0.003271	1	0
ZIC1	7545	broad.mit.edu	37	3	147128364	147128364	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:147128364G>A	uc003ewe.3	+	0	1184	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	155					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACGCGTCGCCTAACGTGG	0.716000														98			55		0	0	0.003610	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910080	101910080	+	Silent	SNP	C	T	T	rs144058687	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:101910080C>T	uc010nod.3	+	2	1881	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.D413D|GPRASP1_uc004ejj.4_Silent_p.D413D|GPRASP1_uc004eji.4_Silent_p.D413D|GPRASP1_uc022cbd.1_Silent_p.D413D	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	413						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTACAGACGAGTCCAGCA	0.542000														236			112		0	0	0.003610	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938483	30938483	+	RNA	SNP	T	C	C	rs145453249	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:30938483T>C	uc010azv.1	+	10		c.1293T>C			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCACCAGGCTTCTCCTTTCCC	0.463000														92			14		0	0	0.004990	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552342	102552342	+	Silent	SNP	A	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:102552342A>T	uc001yku.4	-	2	472	c.282T>A	c.(280-282)acT>acA	p.T94T	HSP90AA1_uc001ykv.4_Silent_p.T216T|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Silent_p.T83T	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	94					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCCAATTCCAGTATCCACAA	0.433000														393			66		0	0	0.003610	0	0
KRT84	3890	broad.mit.edu	37	12	52779007	52779007	+	Silent	SNP	G	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:52779007G>C	uc001sah.1	-	0	411	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	121	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAACCAAAGCCAGGGCCAC	0.577000														852			62		0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61935231	61935231	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:61935231G>A	uc002eog.2	-	2	1354	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGCTGTTAGGGTATACTCAG	0.418000														584			96		0	0	0.003610	0	0
KIF17	57576	broad.mit.edu	37	1	21031222	21031222	+	Missense_Mutation	SNP	G	A	A	rs150395335		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:21031222G>A	uc001bdr.4	-	4	959	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KIF17_uc001bds.4_Missense_Mutation_p.R281C	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	281					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTTACAGCGCCCGTCCACC	0.662000														576			65		0	0	0.003610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:55703122A>T	uc010ris.2	-	0	755	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T251M(1)|p.T251T(1)|p.T251S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428000														160			9		0	0	0.008291	0	0
SREBF2	6721	broad.mit.edu	37	22	42300961	42300961	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42300961C>T	uc003bbi.3	+	17	3357	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	1063					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGGCGCACCACGCAGAGCACC	0.697000														80			6		0	0	0.001984	0	0
RAPH1	65059	broad.mit.edu	37	2	204305978	204305978	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:204305978A>G	uc002vad.3	-	13	2160	c.1935T>C	c.(1933-1935)ccT>ccC	p.P645P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	645					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						gtgggggaggagggggtggtg	0.602000														146			9		0	0	0.007835	0	0
AZU1	566	broad.mit.edu	37	19	829611	829611	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:829611C>T	uc002lpz.1	+	2	281	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	89	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGGCGGCGGGAGAGGCA	0.632000														592			14		0	0	0.004990	0	0
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:68692367T>A	uc003jwo.3	+	12	1661	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_uc003jwg.3_Missense_Mutation_p.N522K|RAD17_uc003jwi.3_Missense_Mutation_p.N522K|RAD17_uc003jwh.3_Missense_Mutation_p.N522K|RAD17_uc003jwj.3_Missense_Mutation_p.N522K|RAD17_uc003jwk.3_Missense_Mutation_p.N522K|RAD17_uc003jwl.3_Missense_Mutation_p.N522K|RAD17_uc003jwm.3_Missense_Mutation_p.N357K|RAD17_uc003jwn.3_Missense_Mutation_p.N436K	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	533	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)		TTCTAATAAATAAAAAGGTAA	0.338000								Other conserved DNA damage response genes						89			12		0	0	0.003330	0	0
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	T	T	rs148714399	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:158618345C>T	uc001fst.1	-	25	3867	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1223					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1223Q(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATGCCGTCGCTGAAGAGC	0.507000														521			64		0	0	0.003610	0	0
ACTL9	284382	broad.mit.edu	37	19	8808115	8808115	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:8808115C>T	uc002mkl.2	-	0	1058	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	313						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GAGAGGCCGACGGGTGACAGC	0.647000														462			80		0	0	0.003610	0	0
PSD	5662	broad.mit.edu	37	10	104163099	104163099	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104163099G>A	uc001kvg.1	-	16	3460	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	PSD_uc001kvh.1_Missense_Mutation_p.A599V|PSD_uc009xxd.1_Missense_Mutation_p.A978V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	978					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCGGCCTGGGCCAGTGCTGC	0.642000														361			26		0	0	0.002096	0	0
LIF	3976	broad.mit.edu	37	22	30639993	30639993	+	Missense_Mutation	SNP	C	T	T	rs41281637	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:30639993C>T	uc003agz.2	-	2	368	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	LIF_uc011aks.1_Missense_Mutation_p.R26H|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	86					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AAGTCCGTCACGTTGGGGCCA	0.627000														350			12		0	0	0.001855	0	0
ODZ4	26011	broad.mit.edu	37	11	78381519	78381519	+	Silent	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:78381519C>T	uc001ozl.4	-	31	6334	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T	ODZ4_uc001ozk.4_Silent_p.T182T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1957					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CGTTGGGCATCGTCACAGAAG	0.537000														344			65		0	0	0.003610	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									304			9		0	0	0.004482	0	0
CNGA4	1262	broad.mit.edu	37	11	6265298	6265298	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6265298A>G	uc001mco.3	+	5	1502	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V	CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	463					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAGACCATCATGGAGGA	0.552000														403			146		0	0	0.003610	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														78			5		0	0	0.001984	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493290	62493290	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:62493290C>A	uc002ygx.1	+	0	725	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	133							hydrolase activity	p.R133S(4)		endometrium(2)|kidney(1)|lung(3)	6						GGGCCAAGAGCGCCTCGTGGA	0.711000														174			25		3.73808e-20	4.11823e-20	0.005443	1	0
ELTD1	64123	broad.mit.edu	37	1	79387314	79387314	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:79387314G>T	uc001diq.4	-	8	1397	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	414	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S414A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGACCAGAGGACATCAAAAT	0.383000														535			63		8.3131e-28	9.37026e-28	0.003610	1	0
TNFRSF9	3604	broad.mit.edu	37	1	8000140	8000140	+	Splice_Site	SNP	T	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:8000140T>G	uc001aot.3	-	3	178	c.-83_splice	c.e3-1			NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCACTCTGCAAAAGATA	0.348000														47			7		0	0	0.001984	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111624222	111624222	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111624222T>C	uc001plw.1	-	8	1193	c.1109A>G	c.(1108-1110)aAa>aGa	p.K370R	PPP2R1B_uc010rwi.1_Missense_Mutation_p.K306R|PPP2R1B_uc001plx.1_Missense_Mutation_p.K370R|PPP2R1B_uc010rwk.1_Intron|PPP2R1B_uc010rwl.1_Missense_Mutation_p.K243R|PPP2R1B_uc010rwj.1_Missense_Mutation_p.K209R	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	370							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGTATTTTCTTTGCCCAAAAT	0.338000														198			39		0	0	0.006999	0	0
RANBP3	8498	broad.mit.edu	37	19	5978075	5978075	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5978075C>G	uc002mdw.3	-	0	246	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	RANBP3_uc002mdx.3_Missense_Mutation_p.E7Q|RANBP3_uc002mdy.3_Missense_Mutation_p.E7Q|RANBP3_uc002mdz.3_Missense_Mutation_p.E7Q|RANBP3_uc010duq.3_5'UTR|RANBP3_uc010xix.2_Missense_Mutation_p.E7Q	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	7					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCCCTACCTTCGTTCGCCAGG	0.701000														212			16		0	0	0.010504	0	0
SLC4A4	8671	broad.mit.edu	37	4	72120977	72120977	+	Silent	SNP	T	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:72120977T>C	uc010iic.3	+	2	231	c.114T>C	c.(112-114)agT>agC	p.S38S	SLC4A4_uc003hfy.3_Silent_p.S38S|SLC4A4_uc010iib.3_Silent_p.S38S|SLC4A4_uc003hfz.3_Silent_p.S38S|SLC4A4_uc003hga.2_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	38						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCCGAAGAGTTACAGGAGAA	0.423000														674			11		0	0	0.000978	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615861	140615861	+	Missense_Mutation	SNP	G	A	A	rs6871453	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:140615861G>A	uc003ljc.1	+	0	1924	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGTACCTCGGGCGGCCGAGCC	0.701000														534			12		0	0	0.001368	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:20414346G>A	uc003zoe.2	-	4	757	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL									296			8		0	0	0.006214	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									275			24		0	0	0.003954	0	0
LGR6	59352	broad.mit.edu	37	1	202273709	202273709	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:202273709C>T	uc001gxu.3	+	10	1021	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	LGR6_uc001gxv.3_Missense_Mutation_p.R289W|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.R202W|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	341						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGCAGGCATCCGGCTGCTCCC	0.642000														319			25		0	0	0.004656	0	0
ZNF805	390980	broad.mit.edu	37	19	57765432	57765432	+	Silent	SNP	A	G	G	rs8100154	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:57765432A>G	uc010ygt.2	+	3	1452	c.1245A>G	c.(1243-1245)aaA>aaG	p.K415K	ZNF805_uc010ygu.2_Silent_p.K282K|ZNF805_uc021vcj.1_Silent_p.K282K	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CCTACCTCAAAAGGCACCAGC	0.527000														291			7		0	0	0.006214	0	0
FABP12	646486	broad.mit.edu	37	8	82439272	82439272	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:82439272C>T	uc011lfp.2	-	2	331	c.331G>A	c.(331-333)Gat>Aat	p.D111N	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	111							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ATTTTCCCATCCACCAGCTTT	0.413000														101			8		0	0	0.004482	0	0
MTMR11	10903	broad.mit.edu	37	1	149908108	149908108	+	Silent	SNP	A	G	G	rs1868992	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:149908108A>G	uc001etl.4	-	1	332	c.81T>C	c.(79-81)aaT>aaC	p.N27N	MTMR11_uc001etm.2_5'UTR|MTMR11_uc010pbm.1_5'UTR|MTMR11_uc010pbn.1_5'Flank|MTMR11_uc010pbo.1_Non-coding_Transcript	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	27							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCGGCATCCTATTTTCCTGGA	0.557000														530			17		0	0	0.004990	0	0
SLC27A3	11000	broad.mit.edu	37	1	153747981	153747981	+	Missense_Mutation	SNP	C	T	T	rs145619769	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:153747981C>T	uc001fcz.3	+	0	214	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	50					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCATGGCTGCCCTCctgctg	0.637000														365			8		0	0	0.004482	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:6536011_6536013delCTC	uc001anp.1	-	3	856_858	c.358_360delGAG	c.(358-360)gagdel	p.E120del	PLEKHG5_uc001ann.1_In_Frame_Del_p.E80del|PLEKHG5_uc001ano.1_In_Frame_Del_p.E99del|PLEKHG5_uc001anq.1_In_Frame_Del_p.E120del|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_In_Frame_Del_p.E112del|PLEKHG5_uc001ank.1_In_Frame_Del_p.E43del|PLEKHG5_uc009vmb.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anl.1_In_Frame_Del_p.E43del|PLEKHG5_uc001anm.1_In_Frame_Del_p.E43del	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	771	---	---	16	---					
TAS1R1	80835	broad.mit.edu	37	1	6638843	6638845	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:6638843_6638845delGCT	uc001ant.3	+	5	1821_1823	c.1725_1727delGCT	c.(1723-1728)acgctg>acg	p.L582del	TAS1R1_uc001anu.3_In_Frame_Del_p.L328del|TAS1R1_uc021ofp.1_In_Frame_Del_p.C392del|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	582					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGCTAACACgctgctgctgctg	0.611													---	327	---	---	10	---					
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													---	1148	---	---	11	---					
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:7980912_7980914delCTT	uc001aot.3	-	8	1010_1012	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													---	863	---	---	7	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:9790640_9790642delCCT	uc001aqh.3	-	18	3629_3631	c.2870_2872delAGG	c.(2869-2874)gagggg>ggg	p.E957del	CLSTN1_uc001aqi.3_In_Frame_Del_p.E947del|CLSTN1_uc010oag.2_In_Frame_Del_p.E938del|CLSTN1_uc001aqf.3_In_Frame_Del_p.E221del	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	957	Glu-rich (highly acidic).				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCTCCCCCTCCTCCTCCTC	0.645													---	601	---	---	8	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													---	56	---	---	8	---					
LDLRAP1	26119	broad.mit.edu	37	1	25889632	25889632	+	Frame_Shift_Del	DEL	T	-	-	rs6687605	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:25889632delT	uc001bkl.4	+	5	718	c.604delT	c.(604-606)tccfs	p.S202fs	LDLRAP1_uc009vrw.3_Non-coding_Transcript|LDLRAP1_uc009vrx.3_Frame_Shift_Del_p.S32fs	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	202			S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).|S -> P (in dbSNP:rs6687605).		amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCCCCTCCTTGAAGAG	0.637													---	529	---	---	11	---					
ARID1A	8289	broad.mit.edu	37	1	27057727	27057729	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:27057727_27057729delCAG	uc001bmv.1	+	2	1808_1810	c.1435_1437delCAG	c.(1435-1437)cagdel	p.Q482del	ARID1A_uc001bmt.1_In_Frame_Del_p.Q482del|ARID1A_uc001bmu.1_In_Frame_Del_p.Q482del|ARID1A_uc001bmw.1_In_Frame_Del_p.Q99del	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	482	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q479*(2)|p.Q481*(1)|p.Q482Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCACCCTCAGCAGCAGCAGC	0.557			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	2015	---	---	8	---					
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:34666398delA	uc001bxt.3	+	2	1873	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_uc001bxs.4_Frame_Shift_Del_p.P155fs	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	155							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572													---	642	---	---	8	---					
DMRTB1	63948	broad.mit.edu	37	1	53930351	53930353	+	In_Frame_Del	DEL	GCC	-	-	rs75818218		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:53930351_53930353delGCC	uc001cvq.1	+	2	847_849	c.792_794delGCC	c.(790-795)ctgccg>ctg	p.P270del		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	270	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.670													---	383	---	---	7	---					
ZNF326	284695	broad.mit.edu	37	1	90470782	90470784	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:90470782_90470784delGTG	uc001dnq.2	+	3	327_329	c.188_190delGTG	c.(187-192)agtggt>agt	p.G68del	ZNF326_uc001dnp.4_In_Frame_Del_p.G68del|ZNF326_uc009wda.1_In_Frame_Del_p.G68del|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	68	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GACAATCACAGTGGTGGTGGTGG	0.409													---	682	---	---	8	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:92447228_92447230delAGC	uc001dol.4	+	12	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_uc010osz.2_In_Frame_Del_p.S652del|BRDT_uc001dok.4_In_Frame_Del_p.S648del|BRDT_uc009wdf.3_In_Frame_Del_p.S575del|BRDT_uc010otb.2_In_Frame_Del_p.S602del|BRDT_uc010ota.2_In_Frame_Del_p.S602del|BRDT_uc001dom.4_In_Frame_Del_p.S648del	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	648	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													---	624	---	---	10	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:145415369_145415371delGAG	uc001eni.2	+	2	513_515	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_uc001enk.2_5'UTR|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718).	axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													---	559	---	---	10	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	1010	---	---	33	---					
ATP1A4	480	broad.mit.edu	37	1	160134106	160134106	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:160134106delT	uc001fve.4	+	6	1418	c.939delT	c.(937-939)actfs	p.T313fs	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	313					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGGTGTCACTTTTTTTGCGC	0.537													---	1315	---	---	9	---					
SLAMF7	57823	broad.mit.edu	37	1	160720196	160720197	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:160720196_160720197delAG	uc001fwq.3	+	3	767_768	c.752_753delAG	c.(751-753)aagfs	p.K251fs	SLAMF7_uc010pjn.2_Frame_Shift_Del_p.K157fs|SLAMF7_uc001fws.3_Frame_Shift_Del_p.K144fs|SLAMF7_uc001fwr.3_Frame_Shift_Del_p.K251fs|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	251					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTTTCTGAAGAGAGAGAGAC	0.475													---	1212	---	---	7	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													---	401	---	---	10	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:165177332_165177334delTGC	uc001gcz.2	-	6	977_979	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_uc021pdz.1_In_Frame_Del_p.261_262QQ>Q|LMX1A_uc021pdy.1_In_Frame_Del_p.12_13QQ>Q|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													---	275	---	---	8	---					
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													---	647	---	---	7	---					
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:176762724delC	uc001gkz.3	+	19	6213	c.5049delC	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468													---	644	---	---	11	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:201843998_201844000delGAG	uc001gwz.3	+	21	2922_2924	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													---	628	---	---	15	---					
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	-	-	rs142739309		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													---	679	---	---	7	---					
AGT	183	broad.mit.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:230839055delA	uc001hty.4	-	4	1798	c.1290delT	c.(1288-1290)tttfs	p.F430fs	AGT_uc009xff.3_Frame_Shift_Del_p.F402fs	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTTCAAGCTCAAAAAAAATGC	0.562													---	511	---	---	9	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	1047	---	---	18	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:39095411_39095413delCCA	uc002rrf.3	-	1	234_236	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_In_Frame_Del_p.45_46GG>G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	45	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													---	687	---	---	11	---					
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:54093344_54093345insT	uc002rxp.2	-	45	5469_5470	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_uc010yop.1_Frame_Shift_Ins_p.T1695fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Ins_p.T1180fs|PSME4_uc010fbv.1_Frame_Shift_Ins_p.T949fs|PSME4_uc010fbt.1_Frame_Shift_Ins_p.T240fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1805					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401													---	827	---	---	12	---					
MTIF2	4528	broad.mit.edu	37	2	55464461	55464461	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:55464461delT	uc002ryn.3	-	15	2711	c.1974delA	c.(1972-1974)aaafs	p.K658fs	MTIF2_uc010yox.2_Frame_Shift_Del_p.K327fs|MTIF2_uc002ryo.3_Frame_Shift_Del_p.K658fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	658					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTAGTTTAAATTTTTTTTGTT	0.378													---	408	---	---	9	---					
EHBP1	23301	broad.mit.edu	37	2	63101604	63101604	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:63101604delA	uc002sby.3	+	10	1709	c.1227delA	c.(1225-1227)ccafs	p.P409fs	EHBP1_uc010fcp.3_Frame_Shift_Del_p.P374fs|EHBP1_uc002sbz.3_Frame_Shift_Del_p.P374fs|EHBP1_uc002scb.3_Frame_Shift_Del_p.P374fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	409						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCCTCTCACCAAAAACAGGAG	0.373													---	1089	---	---	7	---					
DYSF	8291	broad.mit.edu	37	2	71801420	71801422	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:71801420_71801422delCCG	uc010fen.3	+	29	3462_3464	c.3321_3323delCCG	c.(3319-3324)ttccgc>ttc	p.R1111del	DYSF_uc010fei.3_In_Frame_Del_p.R1110del|DYSF_uc010feh.3_In_Frame_Del_p.R1079del|DYSF_uc002sig.4_In_Frame_Del_p.R1079del|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_In_Frame_Del_p.R1124del|DYSF_uc010fee.3_In_Frame_Del_p.R1093del|DYSF_uc010fef.3_In_Frame_Del_p.R1110del|DYSF_uc002sie.3_In_Frame_Del_p.R1093del|DYSF_uc010feo.3_In_Frame_Del_p.R1125del|DYSF_uc010fej.3_In_Frame_Del_p.R1080del|DYSF_uc010fel.3_In_Frame_Del_p.R1080del|DYSF_uc010fem.3_In_Frame_Del_p.R1094del|DYSF_uc002sif.3_In_Frame_Del_p.R1094del|DYSF_uc010fek.3_In_Frame_Del_p.R1111del|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1093						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGATGCCTTCCGCCGCCGCCGC	0.655													---	1075	---	---	9	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:73315337_73315339delTGG	uc002siu.4	-	2	1648_1650	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_uc002sit.4_In_Frame_Del_p.H391del	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													---	1206	---	---	10	---					
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:73453009_73453011delGAG	uc002siw.2	+	12	1221_1223	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	SMYD5_uc010yre.1_In_Frame_Del_p.E287del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	403	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562													---	648	---	---	7	---					
RGPD1	400966	broad.mit.edu	37	2	87211874	87211875	+	Splice_Site	INS	-	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:87211874_87211875insC	uc010fgv.3	+	19	2620	c.2582_splice	c.e19-2	p.V861_splice	RMND5A_uc002srs.4_Intron|RGPD1_uc021vkh.1_Splice_Site_p.V853_splice|RGPD1_uc002ssc.3_Splice_Site_p.V118_splice	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	853					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						tttttttttttAGTTGCAACTA	0.327													---	358	---	---	9	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:96919781_96919783delTGC	uc002svq.3	-	3	756_758	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_uc002svr.3_In_Frame_Del_p.Q160del	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	160					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													---	641	---	---	9	---					
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:110301827_110301828insT	uc002tey.3	-	11	1885_1886	c.1506_1507insA	c.(1504-1509)aaactafs	p.K502fs	SEPT10_uc010ywu.1_3'UTR|SEPT10_uc002tew.3_3'UTR|SEPT10_uc002tex.3_3'UTR|SEPT10_uc010ywv.2_3'UTR|SEPT10_uc002tev.1_3'UTR|SEPT10_uc010fjo.3_Non-coding_Transcript	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													---	249	---	---	9	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:113416607_113416608delAG	uc002tib.3	+	6	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.P328fs	SLC20A1_uc002tic.1_Frame_Shift_Del_p.P140fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													---	503	---	---	9	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:175213712_175213713insT	uc002uim.3	-	9	958_959	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_uc002uin.3_Frame_Shift_Ins_p.I163fs	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	289	Lys/Ser-rich.				RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													---	298	---	---	7	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	-	-	rs140194798		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:196788374delT	uc002utj.4	-	22	3871	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													---	482	---	---	14	---					
ALS2CR11	151254	broad.mit.edu	37	2	202352352	202352352	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:202352352delT	uc002uyf.3	-	15	5498	c.5446delA	c.(5446-5448)attfs	p.I1816fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.I619fs|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323													---	514	---	---	14	---					
RQCD1	9125	broad.mit.edu	37	2	219449364	219449364	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219449364delT	uc010zkh.2	+	3	350	c.350delT	c.(349-351)cttfs	p.L117fs	RQCD1_uc002vih.1_Frame_Shift_Del_p.L117fs|RQCD1_uc010zki.2_Frame_Shift_Del_p.L117fs	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.P116Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATCCCACTTTTTTTGTAC	0.413													---	1593	---	---	9	---					
FAM134A	79137	broad.mit.edu	37	2	220046969	220046969	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:220046969delC	uc002vjw.4	+	8	1386	c.1250delC	c.(1249-1251)tccfs	p.S417fs	FAM134A_uc010fwc.3_Frame_Shift_Del_p.S210fs|FAM134A_uc002vjx.3_Frame_Shift_Del_p.S210fs	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	417						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGGGTCCCCCCCAGAT	0.602													---	1387	---	---	9	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:233546363_233546365delGGA	uc002vtc.3	+	3	862_864	c.654_656delGGA	c.(652-657)cgggag>cgg	p.E222del	EFHD1_uc010fyf.3_In_Frame_Del_p.E126del|EFHD1_uc002vtd.3_In_Frame_Del_p.E110del	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	222							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													---	723	---	---	8	---					
GIGYF2	26058	broad.mit.edu	37	2	233620985	233620987	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:233620985_233620987delGAG	uc002vtj.4	+	6	587_589	c.320_322delGAG	c.(319-324)cgagga>cga	p.G111del	GIGYF2_uc010zmj.1_In_Frame_Del_p.G111del|GIGYF2_uc002vtg.2_In_Frame_Del_p.G111del|GIGYF2_uc002vti.4_In_Frame_Del_p.G111del|GIGYF2_uc002vtk.4_In_Frame_Del_p.G111del|GIGYF2_uc002vth.4_In_Frame_Del_p.G111del|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	111	Poly-Gly.				cell death		protein binding	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424													---	524	---	---	7	---					
TATDN2	9797	broad.mit.edu	37	3	10291121	10291123	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:10291121_10291123delCTC	uc011atr.2	+	1	818_820	c.237_239delCTC	c.(235-240)aactcc>aac	p.S83del	TATDN2_uc003bvg.2_In_Frame_Del_p.S83del|TATDN2_uc003bvf.3_In_Frame_Del_p.S83del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	83						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GCAGAAATAACTCCTCCTCCTCC	0.635													---	1599	---	---	11	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:12790198_12790200delGAG	uc011auv.1	-	2	380_382	c.213_215delCTC	c.(211-216)tcctct>tct	p.71_72SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.55_56SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.55_56SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	55	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													---	1018	---	---	9	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:42679035_42679036insC	uc003clo.3	+	12	1986_1987	c.1839_1840insC	c.(1837-1842)agtcccfs	p.S613fs	NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													---	1033	---	---	7	---					
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:45636543_45636545delCAG	uc003coq.3	+	0	221_223	c.172_174delCAG	c.(172-174)cagdel	p.Q63del		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	63	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626													---	285	---	---	10	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:46306948delT	uc003cpl.2	+	2	1429	c.398delT	c.(397-399)gttfs	p.V133fs	CCR3_uc003cpg.2_Frame_Shift_Del_p.V100fs|CCR3_uc003cpk.2_Frame_Shift_Del_p.V121fs|CCR3_uc003cpi.2_Frame_Shift_Del_p.V100fs|CCR3_uc010hjb.2_Frame_Shift_Del_p.V118fs|CCR3_uc003cpj.2_Frame_Shift_Del_p.V100fs|CCR3_uc021wwz.1_Frame_Shift_Del_p.V100fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	100					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													---	1616	---	---	7	---					
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:48200922_48200923delTC	uc003csh.1	-	13	1709_1710	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_uc003csi.1_Frame_Shift_Del_p.D409fs|CDC25A_uc021wxk.1_Frame_Shift_Del_p.D408fs	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	449	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515													---	437	---	---	8	---					
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	-	-	rs147738916	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:51430822_51430824delCCA	uc003dbd.3	+	0	2124_2126	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	670	His-rich.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635													---	246	---	---	12	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													---	1538	---	---	21	---					
PDE12	201626	broad.mit.edu	37	3	57542768	57542770	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:57542768_57542770delCTT	uc003diw.4	+	0	788_790	c.662_664delCTT	c.(661-666)ccttct>cct	p.S224del	PDE12_uc003div.3_In_Frame_Del_p.S224del	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	224							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTCCTCACCTTCTTCTTCTTG	0.616													---	1237	---	---	7	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:71247357_71247359delTGC	uc003dol.3	-	1	497_499	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_uc003dom.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doo.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dop.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc021xao.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003doq.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_uc003dos.3_In_Frame_Del_p.58_59QQ>Q	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	58	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								---	693	---	---	11	---					
LOC285359	285359	broad.mit.edu	37	3	101432076	101432077	+	RNA	INS	-	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:101432076_101432077insT	uc003dvj.3	+	0		c.799_800insT								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		CTTGTGACAAATGTCTGGATTT	0.376													---	85	---	---	10	---					
DPPA4	55211	broad.mit.edu	37	3	109049606	109049606	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:109049606delT	uc003dxq.4	-	4	499	c.444delA	c.(442-444)aaafs	p.K148fs	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Frame_Shift_Del_p.K148fs	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	148						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCACCTTTAATTTTTTTTGCA	0.413													---	599	---	---	9	---					
STXBP5L	9515	broad.mit.edu	37	3	121100250	121100250	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:121100250delA	uc003eec.4	+	22	2670	c.2530delA	c.(2530-2532)aaafs	p.K844fs	STXBP5L_uc011bji.2_Frame_Shift_Del_p.K820fs	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	844					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTTGCACGGAAAAATGACTC	0.388													---	1504	---	---	7	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:129370576_129370578delCTG	uc021xdy.1	-	5	2142_2144	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_uc003emy.4_In_Frame_Del_p.Q246del|TMCC1_uc011blc.2_In_Frame_Del_p.Q391del|TMCC1_uc010htg.3_In_Frame_Del_p.Q456del	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													---	813	---	---	22	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:129546680_129546682delGCA	uc021xdy.1	-	2	974_976	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_uc010htg.3_In_Frame_Del_p.66_67AA>A	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													---	473	---	---	13	---					
MRAS	22808	broad.mit.edu	37	3	138121035	138121037	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:138121035_138121037delAGA	uc003esh.4	+	5	1247_1249	c.551_553delAGA	c.(550-555)cagaag>cag	p.K189del	MRAS_uc011bmi.2_In_Frame_Del_p.K113del|MRAS_uc003esi.4_In_Frame_Del_p.K189del|MRAS_uc021xep.1_In_Frame_Del_p.K113del|MRAS_uc011bmj.2_In_Frame_Del_p.K113del|MRAS_uc021xeq.1_In_Frame_Del_p.K189del	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	189	Poly-Lys.				Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAAAAAGCCAGAAGAAGAAGAA	0.522													---	671	---	---	8	---					
PIK3CB	5291	broad.mit.edu	37	3	138382756	138382756	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:138382756delT	uc011bmq.2	-	18	2788	c.2788delA	c.(2788-2790)actfs	p.T930fs	PIK3CB_uc011bmn.2_Frame_Shift_Del_p.T442fs|PIK3CB_uc011bmo.2_Frame_Shift_Del_p.T381fs|PIK3CB_uc011bmp.2_Frame_Shift_Del_p.T517fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	930	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACCTGGCCAGTTTTTTTGACC	0.443													---	474	---	---	7	---					
GRK7	131890	broad.mit.edu	37	3	141535708	141535708	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:141535708delG	uc011bnd.2	+	3	1562	c.1478delG	c.(1477-1479)cggfs	p.R493fs		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTGAGGTTCGGGGGGTGGAA	0.463													---	1855	---	---	13	---					
CP	1356	broad.mit.edu	37	3	148930287	148930287	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:148930287delC	uc003ewy.4	-	1	598	c.345delG	c.(343-345)aggfs	p.R115fs	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Frame_Shift_Del_p.R115fs	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	115	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGGTGTAGGGCCTAGAGGCAA	0.388													---	359	---	---	9	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	740	---	---	35	---					
SMC4	10051	broad.mit.edu	37	3	160137290	160137291	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:160137290_160137291insA	uc003fdh.3	+	11	1929_1930	c.1816_1817insA	c.(1816-1818)gaafs	p.E606fs	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Frame_Shift_Ins_p.E370fs|SMC4_uc003fdi.3_Frame_Shift_Ins_p.E581fs|SMC4_uc003fdj.3_Frame_Shift_Ins_p.E606fs|SMC4_uc010hwd.3_Frame_Shift_Ins_p.E606fs|SMC4_uc003fdl.3_Frame_Shift_Ins_p.E309fs	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	606	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATAATTCAAGAAAAAAAATCT	0.337													---	718	---	---	7	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	-	-	rs61743912	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:167747642_167747644delCTG	uc011bpe.1	-	9	1701_1703	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_uc003ffe.2_In_Frame_Del_p.Q453del|GOLIM4_uc011bpf.1_In_Frame_Del_p.Q425del|GOLIM4_uc011bpg.1_In_Frame_Del_p.Q425del	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	453	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													---	465	---	---	12	---					
MECOM	2122	broad.mit.edu	37	3	168833257	168833257	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:168833257delT	uc011bpj.1	-	7	2806	c.2403delA	c.(2401-2403)aaafs	p.K801fs	MECOM_uc010hwk.1_Frame_Shift_Del_p.K636fs|MECOM_uc003ffj.3_Frame_Shift_Del_p.K678fs|MECOM_uc003ffi.3_Frame_Shift_Del_p.K613fs|MECOM_uc011bpi.1_Frame_Shift_Del_p.K614fs|MECOM_uc003ffn.3_Frame_Shift_Del_p.K613fs|MECOM_uc003ffk.2_Frame_Shift_Del_p.K613fs|MECOM_uc003ffl.2_Frame_Shift_Del_p.K773fs|MECOM_uc011bpk.1_Frame_Shift_Del_p.K613fs|MECOM_uc010hwn.2_Frame_Shift_Del_p.K801fs	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	22							sequence-specific DNA binding transcription factor activity	p.G614fs*30(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTTGCTTCCTTTTTTTCCCC	0.498													---	434	---	---	9	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:169896635_169896637delTGG	uc003fgl.2	-	1	138_140	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	23					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													---	2127	---	---	27	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													---	491	---	---	11	---					
YEATS2	55689	broad.mit.edu	37	3	183493803	183493805	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:183493803_183493805delAGG	uc003fly.2	+	17	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del	YEATS2_uc003flz.3_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601													---	354	---	---	8	---					
TRA2B	6434	broad.mit.edu	37	3	185637260	185637262	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:185637260_185637262delTCC	uc003fpv.3	-	6	1021_1023	c.745_747delGGA	c.(745-747)ggadel	p.G249del	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_In_Frame_Del_p.G149del	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	249	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CAGCTCTCCAtcctcctcctcct	0.404													---	483	---	---	7	---					
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:194181471_194181473delGAG	uc003fty.4	-	2	541_543	c.139_141delCTC	c.(139-141)ctcdel	p.L47del		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	47					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463													---	1074	---	---	12	---					
PDE6B	5158	broad.mit.edu	37	4	661763	661765	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:661763_661765delAGG	uc003gap.3	+	20	2524_2526	c.2471_2473delAGG	c.(2470-2475)aaggag>aag	p.E828del	PDE6B_uc003gao.4_In_Frame_Del_p.E828del|PDE6B_uc011buy.2_In_Frame_Del_p.E549del|PDE6B_uc011buz.2_In_Frame_Del_p.E260del	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	828					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGAGGAGAAGGAGGAGGAGGA	0.562													---	1090	---	---	15	---					
RGS12	6002	broad.mit.edu	37	4	3430398	3430399	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:3430398_3430399insA	uc003ggw.3	+	15	4429_4430	c.3525_3526insA	c.(3523-3528)gggaaafs	p.G1175fs	RGS12_uc003ggv.3_Frame_Shift_Ins_p.G1175fs|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Frame_Shift_Ins_p.G527fs|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Frame_Shift_Ins_p.G517fs|RGS12_uc010icv.3_Frame_Shift_Ins_p.G374fs	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1175						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGATTGGGAAAAAAAAATA	0.332													---	414	---	---	15	---					
LRPAP1	4043	broad.mit.edu	37	4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:3516576_3516582delAGCTTCT	uc003ghh.4	-	6	993_999	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.E303fs		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614													---	881	---	---	7	---					
TLR10	81793	broad.mit.edu	37	4	38774956	38774956	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:38774956delT	uc003gtj.3	-	3	2894	c.2256delA	c.(2254-2256)aaafs	p.K752fs	TLR10_uc021xnk.1_Frame_Shift_Del_p.K738fs|TLR10_uc003gti.3_Frame_Shift_Del_p.K752fs|TLR10_uc021xnl.1_Frame_Shift_Del_p.K752fs|TLR10_uc003gtk.3_Frame_Shift_Del_p.K752fs|TLR10_uc021xnm.1_Frame_Shift_Del_p.K752fs	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	752	TIR.				MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCAAGTATGCTTTTTTTTCCA	0.388													---	474	---	---	7	---					
KLB	152831	broad.mit.edu	37	4	39448946	39448946	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:39448946delG	uc003gua.3	+	3	2697	c.2600delG	c.(2599-2601)tggfs	p.W867fs	KLB_uc011byj.2_Frame_Shift_Del_p.W858fs	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	867	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGATTCCCTGGGGGGTGCGC	0.647													---	958	---	---	7	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	702	---	---	12	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:46060358delA	uc003gxb.3	-	6	944	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													---	444	---	---	11	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													---	339	---	---	21	---					
FGF5	2250	broad.mit.edu	37	4	81187992	81187994	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:81187992_81187994delTCC	uc003hmd.3	+	0	251_253	c.14_16delTCC	c.(13-18)ttcctc>ttc	p.L9del	FGF5_uc003hme.3_In_Frame_Del_p.L9del	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCTTGTCCTTCCTCCTCCTCCT	0.631													---	568	---	---	7	---					
NUDT9	53343	broad.mit.edu	37	4	88344097	88344098	+	Frame_Shift_Del	DEL	TC	-	-	rs151296797		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:88344097_88344098delTC	uc003hqq.3	+	0	370_371	c.40_41delTC	c.(40-42)tctfs	p.S14fs	NUDT9_uc010ikl.3_Frame_Shift_Del_p.S14fs|NUDT9_uc003hqr.3_Intron	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	14						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AGCCGCGGTGTCTCTCTCTCTG	0.649													---	718	---	---	7	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:90844391_90844393delAGC	uc003hst.3	+	3	994_996	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_uc010iku.3_In_Frame_Del_p.Q279del|MMRN1_uc011cds.2_In_Frame_Del_p.Q55del	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	313	Poly-Gln.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													---	1788	---	---	7	---					
LEF1	51176	broad.mit.edu	37	4	109088884	109088884	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:109088884delC	uc003hyt.2	-	0	1229	c.40delG	c.(40-42)gacfs	p.D14fs	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.2_5'Flank|LEF1_uc003hyu.2_Frame_Shift_Del_p.D14fs|LEF1_uc003hyv.2_Frame_Shift_Del_p.D14fs|LEF1_uc010imb.2_Non-coding_Transcript|LOC641518_uc021xqn.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	14	Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity).				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGTTCCGGGTCCCCCCCGCCG	0.637													---	1137	---	---	7	---					
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:123302211delA	uc003ieo.3	+	3	469	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_uc003iep.3_Frame_Shift_Del_p.P79fs|ADAD1_uc003ieq.3_Frame_Shift_Del_p.P61fs	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	79					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358													---	445	---	---	16	---					
LRBA	987	broad.mit.edu	37	4	151509211	151509211	+	Frame_Shift_Del	DEL	T	-	-	rs34237929		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:151509211delT	uc010ipj.3	-	40	6596	c.6352delA	c.(6352-6354)atcfs	p.I2118fs	LRBA_uc003ilt.4_Frame_Shift_Del_p.I766fs|LRBA_uc003ilu.4_Frame_Shift_Del_p.I2107fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2118						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGGGGTCGATTTTTTTGAAG	0.453													---	1458	---	---	8	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	171	---	---	10	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:174253277_174253279delTCC	uc011ckc.1	-	3	702_704	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_uc003ita.3_In_Frame_Del_p.194_195EE>E|HMGB2_uc003itb.2_In_Frame_Del_p.194_195EE>E	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	194	Asp/Glu-rich (acidic).				DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													---	578	---	---	16	---					
ODZ3	55714	broad.mit.edu	37	4	183609359	183609359	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:183609359delG	uc003ivd.1	+	10	2151	c.2076delG	c.(2074-2076)atgfs	p.M692fs	ODZ3_uc003ive.1_Frame_Shift_Del_p.M98fs	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	692	EGF-like 6.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCGTTTGCATGGGGGGGACGT	0.592													---	1352	---	---	8	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:186544620_186544622delGGT	uc003iyg.3	-	12	2323_2325	c.2291_2293delACC	c.(2290-2295)caccgc>cgc	p.H764del	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_In_Frame_Del_p.H750del|SORBS2_uc003iyl.3_In_Frame_Del_p.H650del|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_In_Frame_Del_p.H554del|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	650						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													---	447	---	---	12	---					
CDH10	1008	broad.mit.edu	37	5	24511437	24511437	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:24511437delT	uc003jgr.2	-	6	1508	c.1002_splice	c.e6+1	p.K334_splice	CDH10_uc011cnu.2_Splice_Site	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCTGTGCACCTTTTTCACAGT	0.403										HNSCC(23;0.051)			---	1028	---	---	7	---					
MRPS30	10884	broad.mit.edu	37	5	44815246	44815255	+	Frame_Shift_Del	DEL	TAGTTCACTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:44815246_44815255delTAGTTCACTT	uc003joh.3	+	4	1300_1309	c.1262_1271delTAGTTCACTT	c.(1261-1272)atagttcactttfs	p.I421fs		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	421					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.Q420*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CTACTTCAGATAGTTCACTTTCTACTGAAT	0.319													---	215	---	---	23	---					
JMY	133746	broad.mit.edu	37	5	78610476	78610478	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:78610476_78610478delCCA	uc003kfx.4	+	8	3010_3012	c.2461_2463delCCA	c.(2461-2463)ccadel	p.P825del	JMY_uc003kfw.1_In_Frame_Del_p.P471del	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	825	Pro-rich.				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tccccctcccccaccaccaccac	0.537													---	384	---	---	9	---					
THBS4	7060	broad.mit.edu	37	5	79355567	79355567	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:79355567delC	uc021yaw.1	+	6	1017	c.826delC	c.(826-828)cccfs	p.P276fs		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	276				P -> A (in Ref. 1 and 2).	endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACGGTGGTGCCCCCGGCTCC	0.562													---	1536	---	---	8	---					
MEGF10	84466	broad.mit.edu	37	5	126792989	126792991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:126792989_126792991delCAG	uc003kuh.4	+	25	3764_3766	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_uc003kui.4_In_Frame_Del_p.S1139del	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512													---	326	---	---	7	---					
HNRNPA0	10949	broad.mit.edu	37	5	137088929	137088931	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:137088929_137088931delCCG	uc003lbt.3	-	0	1109_1111	c.825_827delCGG	c.(823-828)ggcggt>ggt	p.275_276GG>G	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	275	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding	p.G275G(2)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTgcctccaccgccgccgccgc	0.626													---	213	---	---	7	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:137801633_137801635delCAG	uc003ldb.1	+	0	453_455	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	67	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.700													---	257	---	---	11	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:140032593_140032594delGA	uc003lgq.3	+	4	378_379	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_uc011czk.1_Frame_Shift_Del_p.E90fs|IK_uc021yen.1_Frame_Shift_Del_p.E31fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													---	294	---	---	10	---					
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:175306965_175306967delGAG	uc003mde.1	+	4	668_670	c.322_324delGAG	c.(322-324)gagdel	p.E114del	CPLX2_uc003mdf.1_In_Frame_Del_p.E114del|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	114					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCGGGGACGAGGAGGAGGAGG	0.645													---	208	---	---	9	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:179149920delT	uc011dgp.2	+	10	1478	c.1403delT	c.(1402-1404)attfs	p.I468fs	CANX_uc003mkk.3_Frame_Shift_Del_p.I433fs|CANX_uc003mkl.3_Frame_Shift_Del_p.I433fs|CANX_uc011dgq.2_Frame_Shift_Del_p.I325fs	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	433					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													---	582	---	---	7	---					
ATXN1	6310	broad.mit.edu	37	6	16327900	16327901	+	In_Frame_Ins	INS	-	TGC	TGC	rs66949327		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:16327900_16327901insTGC	uc003nbt.3	-	7	1612_1613	c.641_642insGCA	c.(640-642)cag>caGCAg	p.214_214Q>QQ	ATXN1_uc010jpi.3_In_Frame_Ins_p.214_214Q>QQ|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	214	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgatg	0.668													---	134	---	---	8	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:18264079_18264081delTCC	uc003ncr.1	-	1	331_333	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_uc011djf.1_In_Frame_Del_p.46_47EE>E|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								---	499	---	---	9	---					
HIST1H1E	3008	broad.mit.edu	37	6	26157161	26157161	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:26157161delA	uc003ngq.3	+	0	603	c.543delA	c.(541-543)ccafs	p.P181fs	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	181					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAGCCAAGCCAAAAAAGGCGC	0.567													---	190	---	---	7	---					
SLC26A8	116369	broad.mit.edu	37	6	35912065	35912065	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:35912065delT	uc003olm.3	-	19	2636	c.2525delA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Del_p.N424fs|SLC26A8_uc003oll.3_Frame_Shift_Del_p.N737fs|SLC26A8_uc003oln.3_Frame_Shift_Del_p.N842fs	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGACTTACATTTTTTTGGCT	0.398													---	684	---	---	10	---					
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:38816440delA	uc021yzh.1	+	36	5171	c.5062delA	c.(5062-5064)aaafs	p.K1688fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.K1471fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTCCATTTAAAAAAAATAT	0.343													---	313	---	---	7	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:42897358_42897360delTGC	uc003ota.4	+	0	499_501	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_uc003osy.2_Non-coding_Transcript|CNPY3_uc003otb.4_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	Homo sapiens canopy 3 homolog (zebrafish) (CNPY3), mRNA.	17					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													---	48	---	---	7	---					
GSTA1	2938	broad.mit.edu	37	6	52664097	52664100	+	Splice_Site	DEL	TGAA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:52664097_52664100delTGAA	uc003paz.3	-	2	83	c.-29_splice	c.e2-1		GSTA1_uc021zan.1_Splice_Site	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TCTCTAAGCCtgaatgaatgaatg	0.431													---	363	---	---	8	---					
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	-	-	rs76774128		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:55039411delC	uc003pcl.3	+	0	341	c.26delC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567													---	1129	---	---	8	---					
COL12A1	1303	broad.mit.edu	37	6	75899298	75899298	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:75899298delT	uc021zbv.1	-	4	663	c.628delA	c.(628-630)attfs	p.I210fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.I210fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	210	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTATATGGAATTTTTTTTATT	0.323													---	806	---	---	10	---					
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:161469776delA	uc003qtn.3	+	2	614	c.472delA	c.(472-474)aaafs	p.K158fs	MAP3K4_uc010kkc.1_Frame_Shift_Del_p.K158fs|MAP3K4_uc003qto.3_Frame_Shift_Del_p.K158fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	158					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403													---	665	---	---	11	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:2963941_2963943delGGA	uc003smv.3	-	14	2198_2200	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	622					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								---	605	---	---	8	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	588	---	---	15	---					
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	-	-	rs13928	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:44153778_44153780delAGA	uc003tkb.3	+	20	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_uc003tkc.4_In_Frame_Del_p.K708del|AEBP1_uc003tkd.3_In_Frame_Del_p.K383del	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													---	439	---	---	7	---					
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:48318519delA	uc003toq.2	+	17	7752	c.7728delA	c.(7726-7728)ttafs	p.L2576fs	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313													---	575	---	---	7	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	2307	---	---	8	---					
RSBN1L	222194	broad.mit.edu	37	7	77326220	77326222	+	In_Frame_Del	DEL	CCG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:77326220_77326222delCCG	uc010ldt.1	+	0	478_480	c.434_436delCCG	c.(433-438)cccgcc>ccc	p.A151del	LOC100505854_uc003ugj.1_Non-coding_Transcript|LOC100505854_uc003ugk.4_Non-coding_Transcript	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	151	Poly-Ala.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTCCTGCCCGCCGCCGCCGC	0.685													---	261	---	---	7	---					
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:89856465delT	uc010len.3	+	3	1179	c.673delT	c.(673-675)tttfs	p.F225fs	STEAP2_uc003ujy.2_Frame_Shift_Del_p.F267fs|STEAP2_uc003uka.3_Frame_Shift_Del_p.F225fs|STEAP2_uc003ujz.3_Frame_Shift_Del_p.F225fs|STEAP2_uc003ukc.3_Frame_Shift_Del_p.F225fs|STEAP2_uc003ukb.3_Frame_Shift_Del_p.F225fs|STEAP2_uc003ukd.3_Frame_Shift_Del_p.F225fs	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	225					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393													---	461	---	---	7	---					
CASD1	64921	broad.mit.edu	37	7	94174999	94174999	+	Frame_Shift_Del	DEL	A	-	-	rs74907120		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:94174999delA	uc003uni.4	+	11	1846	c.1619delA	c.(1618-1620)caafs	p.Q540fs	CASD1_uc003unj.4_Frame_Shift_Del_p.Q540fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	540						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAATAATCCAAAAAAAAGCA	0.294													---	185	---	---	7	---					
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99032605_99032607delCTC	uc011kiw.2	-	2	466_468	c.406_408delGAG	c.(406-408)gagdel	p.E136del	ATP5J2-PTCD1_uc003uqh.3_In_Frame_Del_p.E87del	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	136								p.E87K(1)									TCCCAAAACTCTCCTCCTCCTCC	0.606													---	943	---	---	11	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:100281686_100281688delGCT	uc003uwg.1	-	14	2832_2834	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													---	197	---	---	7	---					
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	-	-	rs142340746		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:100283635_100283637delTCC	uc003uwg.1	-	8	2023_2025	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	338	Poly-Glu.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675													---	416	---	---	7	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:100479332delG	uc003uwy.2	+	3	571	c.304delG	c.(304-306)gggfs	p.G102fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.G102fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.G102fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.G102fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	102					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607													---	424	---	---	10	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:100482040_100482042delAGG	uc003uwy.2	+	6	1076_1078	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_uc010lhl.1_In_Frame_Del_p.E275del|SRRT_uc003uxa.2_In_Frame_Del_p.E275del|SRRT_uc003uwz.2_In_Frame_Del_p.E275del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	275	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													---	190	---	---	12	---					
SRPK2	6733	broad.mit.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:104844170_104844172delGGT	uc003vct.3	-	1	286_288	c.99_101delACC	c.(97-102)ccaccg>ccg	p.33_34PP>P	SRPK2_uc003vcu.3_In_Frame_Del_p.33_34PP>P|SRPK2_uc003vcv.3_In_Frame_Del_p.44_45PP>P|SRPK2_uc003vcw.1_In_Frame_Del_p.33_34PP>P	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	33					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P33P(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552													---	192	---	---	8	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:114271580_114271582delCAG	uc003vhb.3	+	6	972	c.598_splice	c.e6-1	p.Q200_splice	FOXP2_uc003vgu.3_Splice_Site|FOXP2_uc003vgz.3_Splice_Site_p.Q225_splice|FOXP2_uc003vha.3_Splice_Site_p.Q108_splice|FOXP2_uc011kmv.2_Intron|FOXP2_uc011kmu.2_Splice_Site_p.Q217_splice|FOXP2_uc010ljz.2_Splice_Site_p.Q108_splice|FOXP2_uc003vgt.2_Splice_Site|FOXP2_uc003vgv.1_Splice_Site_p.Q200_splice|FOXP2_uc003vgx.2_Splice_Site_p.Q200_splice|FOXP2_uc003vhc.3_Splice_Site_p.Q225_splice|FOXP2_uc003vhd.3_Splice_Site_p.Q200_splice	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	200	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													---	64	---	---	8	---					
WASL	8976	broad.mit.edu	37	7	123332839	123332841	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:123332839_123332841delAGG	uc003vkz.3	-	8	1235_1237	c.907_909delCCT	c.(907-909)cctdel	p.P303del		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	303	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P303A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCCCTagcaggaggaggagga	0.616													---	680	---	---	13	---					
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:123332873_123332875delGGA	uc003vkz.3	-	8	1201_1203	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	291	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567													---	671	---	---	7	---					
FLNC	2318	broad.mit.edu	37	7	128486812	128486812	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:128486812delG	uc003vnz.4	+	23	4350	c.4141delG	c.(4141-4143)gggfs	p.G1381fs	FLNC_uc003voa.4_Frame_Shift_Del_p.G1381fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1381					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGCGGGCACCGGGGGCCTTGG	0.587													---	503	---	---	8	---					
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:22472975delC	uc003xch.3	+	11	1492	c.1243delC	c.(1243-1245)cccfs	p.P415fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.P415fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.P84fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	415					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCAGCCGGGACCCCCCCGGCG	0.582													---	895	---	---	8	---					
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:52359596delT	uc003xqu.4	-	11	1594	c.1493delA	c.(1492-1494)aagfs	p.K498fs		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													---	1351	---	---	7	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:59750796_59750798delCTT	uc003xtw.1	-	4	987_989	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													---	987	---	---	17	---					
NCOA2	10499	broad.mit.edu	37	8	71071800	71071803	+	Frame_Shift_Del	DEL	AGTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:71071800_71071803delAGTT	uc003xyn.1	-	9	1223_1226	c.1061_1064delAACT	c.(1060-1065)aaactcfs	p.K354fs		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	354					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGAACGGATGAGTTTGCTCTTCGT	0.402			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								---	732	---	---	191	---					
SLC26A7	115111	broad.mit.edu	37	8	92406218	92406218	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:92406218delT	uc003yez.3	+	17	2125	c.1886delT	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GAGAAACCAATTTTTTTTGAA	0.343													---	502	---	---	9	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	387	---	---	13	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	A	A	rs140822921	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:101724994_101724995insA	uc003yjs.1	-	5	1265_1266	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.K222fs|PABPC1_uc011lhd.1_Frame_Shift_Ins_p.K209fs|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.K251fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													---	352	---	---	8	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:143310866_143310868delGAT	uc003ywj.3	-	11	1561_1563	c.1522_1524delATC	c.(1522-1524)atcdel	p.I508del	TSNARE1_uc011lju.2_In_Frame_Del_p.I506del|TSNARE1_uc003ywk.3_In_Frame_Del_p.I507del	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	507					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													---	533	---	---	14	---					
CYP11B2	1585	broad.mit.edu	37	8	143993951	143993953	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:143993951_143993953delGCA	uc003yxk.1	-	7	1394_1396	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	464					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I				---	467	---	---	8	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	-	-	rs2272753	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:144522387_144522389delGAG	uc003yyd.2	-	10	2666_2668	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655													---	132	---	---	14	---					
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:144890900_144890902delTCC	uc003yzp.1	-	14	1999_2001	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_uc003yzo.1_In_Frame_Del_p.664_665EE>E	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665													---	340	---	---	9	---					
PUF60	22827	broad.mit.edu	37	8	144906520	144906522	+	In_Frame_Del	DEL	GCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:144906520_144906522delGCC	uc003yzs.3	-	1	136_138	c.72_74delGGC	c.(70-75)gcggca>gca	p.24_25AA>A	PUF60_uc003yzq.3_5'UTR|PUF60_uc003yzr.3_5'UTR|PUF60_uc003yzt.3_In_Frame_Del_p.24_25AA>A|PUF60_uc003yzu.1_5'Flank	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	24	Inhibits homodimerization.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			tgccaccactgccgccgccgccg	0.690													---	273	---	---	8	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	-	-	rs11270020		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.3	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zci.3_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	423						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													---	23	---	---	9	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:732475_732477delGAG	uc003zgl.1	+	9	3752_3754	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_In_Frame_Del_p.E1039del|KANK1_uc003zgs.1_In_Frame_Del_p.E881del|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													---	845	---	---	20	---					
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:2837296delT	uc003zhp.1	-	2	284	c.188delA	c.(187-189)aagfs	p.K63fs	KIAA0020_uc003zhq.1_Frame_Shift_Del_p.K63fs	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													---	1292	---	---	8	---					
MLLT3	4300	broad.mit.edu	37	9	20414377	20414379	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:20414377_20414379delCTG	uc003zoe.2	-	4	724_726	c.465_467delCAG	c.(463-468)agcagt>agt	p.155_156SS>S	MLLT3_uc011lne.1_In_Frame_Del_p.123_124SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.152_153SS>S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctactgctgctgctgc	0.532			T	MLL	ALL								---	265	---	---	20	---					
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971144	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:21971143_21971144insA	uc003zpk.3	-	1	520_521	c.214_215insT	c.(214-216)tgcfs	p.C72fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.C72fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.L86fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	72			C -> G (in an esophagus tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.N71K(3)|p.C72*(3)|p.E61_L94del(2)|p.C72S(2)|p.C72Y(2)|p.C72G(2)|p.C72fs*74(2)|p.C72fs*71(2)|p.N71fs*50(1)|p.N71D(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.N71fs*1(1)|p.A68fs*3(1)|p.N71N(1)|p.N71I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCC	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	80	---	---	19	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:35906348_35906350delCTG	uc003zyr.1	+	0	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													---	187	---	---	15	---					
TLE1	7088	broad.mit.edu	37	9	84208132	84208132	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:84208132delG	uc004alz.3	-	14	1860	c.1419delC	c.(1417-1419)cccfs	p.P473fs	TLE1_uc004aly.3_Frame_Shift_Del_p.P463fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.P448fs|TLE1_uc004ama.1_Frame_Shift_Del_p.P462fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	463					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGAGGGCGTCGGGGGGAAAAG	0.562													---	630	---	---	7	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	-	-	rs137929518	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:95277146_95277148delTCC	uc011lty.2	-	3	1006_1008	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_In_Frame_Del_p.E251del|ECM2_uc004asg.3_In_Frame_Del_p.E251del	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													---	823	---	---	14	---					
FKBP15	23307	broad.mit.edu	37	9	115969556	115969556	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:115969556delT	uc004bgs.2	-	2	343	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_uc010muu.1_Frame_Shift_Del_p.T128fs|FKBP15_uc011lxd.1_5'UTR|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Frame_Shift_Del_p.T64fs	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	64					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418													---	1800	---	---	12	---					
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:124522389_124522391delAAG	uc004bln.3	+	5	826_828	c.757_759delAAG	c.(757-759)aagdel	p.K257del	DAB2IP_uc004blo.3_In_Frame_Del_p.K161del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	285	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601													---	460	---	---	12	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:140087025_140087027delTCC	uc004clt.3	-	1	1842_1844	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_uc004clu.3_In_Frame_Del_p.614_615EE>E	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	614	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													---	163	---	---	9	---					
SFMBT2	57713	broad.mit.edu	37	10	7212995	7212997	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:7212995_7212997delCTC	uc009xio.2	-	19	2528_2530	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_uc001ijn.2_In_Frame_Del_p.E813del|SFMBT2_uc010qay.2_In_Frame_Del_p.E648del	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													---	1049	---	---	9	---					
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:33018277delA	uc001iwm.1	+	7	882	c.646delA	c.(646-648)aaafs	p.K216fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.K248fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.K240fs|C10orf68_uc010qei.1_Frame_Shift_Del_p.K152fs|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	240										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323													---	386	---	---	9	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:52569667_52569669delAGC	uc001jjj.3	-	11	1806_1808	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_uc010qho.2_In_Frame_Del_p.A548del|A1CF_uc010qhn.2_In_Frame_Del_p.A540del|A1CF_uc009xov.3_In_Frame_Del_p.A532del|A1CF_uc001jji.3_In_Frame_Del_p.A532del|A1CF_uc001jjh.3_In_Frame_Del_p.A540del	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													---	492	---	---	8	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:64952699delT	uc001jmn.3	-	16	6376	c.6076_splice	c.e16+1	p.E2026_splice	JMJD1C_uc001jml.3_Splice_Site_p.E1789_splice|JMJD1C_uc001jmm.3_Splice_Site_p.E1738_splice|JMJD1C_uc010qiq.2_Splice_Site_p.E1844_splice|JMJD1C_uc009xpi.3_Splice_Site_p.E1844_splice|JMJD1C_uc009xpj.2_Splice_Site|JMJD1C_uc001jmo.3_5'Flank|JMJD1C_uc009xpk.1_Splice_Site	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2026					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373													---	568	---	---	7	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:70509285_70509286delGA	uc001joo.3	+	9	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													---	266	---	---	15	---					
DLG5	9231	broad.mit.edu	37	10	79565520	79565520	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:79565520delA	uc001jzk.3	-	26	5137	c.5067delT	c.(5065-5067)tttfs	p.F1689fs	DLG5_uc001jzi.3_Frame_Shift_Del_p.F444fs|DLG5_uc001jzj.3_Frame_Shift_Del_p.F1104fs|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1689					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTTTCCTCCGAAAAAAGGACC	0.537													---	771	---	---	8	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:81072446delC	uc001kaf.2	+	24	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.D114fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													---	1536	---	---	8	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102763415_102763417delCCT	uc001ksj.3	+	2	730_732	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_uc010qpw.2_In_Frame_Del_p.S197del|LZTS2_uc001ksk.3_In_Frame_Del_p.S197del|LZTS2_uc001ksl.3_In_Frame_Del_p.S197del|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	197	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													---	1343	---	---	26	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:103919000_103919002delAGC	uc001kup.2	+	5	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_uc001kuo.2_In_Frame_Del_p.S227del|NOLC1_uc001kuq.2_In_Frame_Del_p.S228del|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S226N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													---	882	---	---	11	---					
CUEDC2	79004	broad.mit.edu	37	10	104184037	104184039	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104184037_104184039delGCA	uc001kvn.2	-	4	544_546	c.393_395delTGC	c.(391-396)gctgca>gca	p.131_132AA>A	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	131						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTGGGTGTCTGCAGCAGCAGCAG	0.581													---	730	---	---	8	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	1256	---	---	16	---					
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:592586_592588delGAG	uc001lqe.3	+	5	663_665	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_uc010qwc.2_In_Frame_Del_p.E181del|PHRF1_uc010qwd.2_In_Frame_Del_p.E180del|PHRF1_uc010qwe.2_In_Frame_Del_p.E177del|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													---	1272	---	---	7	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6432090_6432092delTCC	uc001mdb.1	-	1	586_588	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_uc001mdc.1_In_Frame_Del_p.E162del|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	162	Glu-rich.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.E162D(2)|p.E162K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635													---	296	---	---	12	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6891253_6891255delTTC	uc001meu.1	+	0	268_270	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	1076	---	---	16	---					
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:30034029_30034031delTGG	uc021qfi.1	-	0	195_197	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_uc001msk.3_In_Frame_Del_p.H65del	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	65	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H64R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCCGCGTGACTGGTGGTGGTGGT	0.660													---	532	---	---	7	---					
C11orf46	120534	broad.mit.edu	37	11	30352754	30352754	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:30352754delA	uc001mso.1	+	1	423	c.259delA	c.(259-261)aaafs	p.K87fs		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	87										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						GAAATTAGCCAAAAAAAATTT	0.338													---	658	---	---	9	---					
ARHGAP1	392	broad.mit.edu	37	11	46702224	46702224	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:46702224delG	uc001ndd.3	-	7	778	c.709delC	c.(709-711)ctgfs	p.L237fs		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	237					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGGTTGGGCAGGGGGGGCCGT	0.642													---	605	---	---	8	---					
ARFGAP2	84364	broad.mit.edu	37	11	47196853	47196853	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:47196853delA	uc001ndt.3	-	3	548	c.276delT	c.(274-276)tttfs	p.F92fs	ARFGAP2_uc010rha.2_5'Flank|ARFGAP2_uc010rhb.2_Frame_Shift_Del_p.F92fs|ARFGAP2_uc001ndu.3_Intron|ARFGAP2_uc010rhc.2_Intron|ARFGAP2_uc010rhd.2_Frame_Shift_Del_p.F92fs	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA.	92	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CATGTTGGCGAAAAAAAGCCG	0.537													---	802	---	---	8	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:47359101_47359103delTCT	uc021qis.1	-	24	2496_2498	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_uc021qir.1_In_Frame_Del_p.K466del|MYBPC3_uc010rhl.2_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													---	429	---	---	12	---					
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:60703785_60703787delGGA	uc001nqi.3	+	10	2674_2676	c.2481_2483delGGA	c.(2479-2484)agggag>agg	p.E836del	TMEM132A_uc001nqj.3_In_Frame_Del_p.E835del	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	835	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635													---	733	---	---	13	---					
SLC22A10	387775	broad.mit.edu	37	11	63071638	63071638	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:63071638delT	uc009yor.3	+	7	1552	c.1344delT	c.(1342-1344)actfs	p.T448fs	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Frame_Shift_Del_p.L242fs	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	448						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCTGCTACTTTTTCCAGTG	0.483													---	1568	---	---	7	---					
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:63533335_63533337delTCC	uc010rmv.2	-	1	598_600	c.579_581delGGA	c.(577-582)gaggaa>gaa	p.193_194EE>E	C11orf95_uc001nxs.3_In_Frame_Del_p.79_80EE>E	NM_001144936	NP_001138408	C9JLR9	CK095_HUMAN	Homo sapiens chromosome 11 open reading frame 95 (C11orf95), mRNA.	193	Glu-rich.					intracellular	zinc ion binding										ctcctcttcttcctcctcctcct	0.670													---	19	---	---	8	---					
KAT5	10524	broad.mit.edu	37	11	65480517	65480518	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:65480517_65480518delAG	uc001ofi.3	+	3	539_540	c.273_274delAG	c.(271-276)ccagagfs	p.P91fs	KAT5_uc001ofj.3_Frame_Shift_Del_p.P91fs|KAT5_uc001ofk.3_Frame_Shift_Del_p.P124fs|KAT5_uc010roo.2_Frame_Shift_Del_p.P124fs|KAT5_uc001ofl.3_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	91					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGGCTCTCCAGAGAGAGAGGT	0.564													---	975	---	---	8	---					
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:67018079_67018081delGAG	uc001ojw.3	+	16	3442_3444	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_In_Frame_Del_p.E560del|KDM2A_uc010rpn.2_In_Frame_Del_p.E427del|KDM2A_uc001ojz.1_In_Frame_Del_p.E324del|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655													---	208	---	---	7	---					
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:93486914delA	uc001peh.3	+	3	415	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_uc001pef.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc009ywi.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc001peg.3_Frame_Shift_Del_p.Q74fs|C11orf54_uc001pei.3_Frame_Shift_Del_p.Q55fs|C11orf54_uc001pej.3_Frame_Shift_Del_p.Q55fs|C11orf54_uc001pek.3_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	74						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353													---	216	---	---	7	---					
CASP1	834	broad.mit.edu	37	11	104901070	104901070	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:104901070delT	uc001pim.4	-	4	614	c.614delA	c.(613-615)aatfs	p.N205fs	CASP1_uc001pig.3_Frame_Shift_Del_p.N112fs|CASP1_uc021qpq.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpr.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Frame_Shift_Del_p.N205fs|CASP1_uc021qpt.1_Frame_Shift_Del_p.N112fs|CASP1_uc010rve.2_Frame_Shift_Del_p.N205fs|CASP1_uc010rvf.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvg.2_Frame_Shift_Del_p.N184fs|CASP1_uc010rvh.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Frame_Shift_Del_p.N184fs|CASP1_uc021qpu.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpv.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpw.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Frame_Shift_Del_p.N205fs|CASP1_uc009yxj.3_Frame_Shift_Del_p.N50fs|CASP1_uc010rvk.2_Frame_Shift_Del_p.N166fs	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	205					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.N205I(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGCAGTGAGATTTTTTTTCAC	0.378													---	883	---	---	7	---					
SIK2	23235	broad.mit.edu	37	11	111594527	111594529	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111594527_111594529delCAG	uc001plt.3	+	14	2573_2575	c.2455_2457delCAG	c.(2455-2457)cagdel	p.Q822del		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	822					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CACGCAGCTACAGCAGCAGCAGc	0.640													---	848	---	---	7	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:118220583delA	uc001psu.2	+	2	285	c.205delA	c.(205-207)aaafs	p.K69fs	CD3G_uc009zaa.1_Frame_Shift_Del_p.K9fs	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	69	Ig-like.				T cell activation|T cell costimulation|T cell receptor signaling pathway|establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis	T cell receptor complex|integral to plasma membrane	T cell receptor binding|protein heterodimerization activity|receptor signaling complex scaffold activity|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACTGAAGATAAAAAAAAATG	0.403													---	472	---	---	7	---					
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:118967854_118967856delGCA	uc001pvi.3	-	7	1577_1579	c.1157_1159delTGC	c.(1156-1161)ctgcag>cag	p.L386del	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_In_Frame_Del_p.L279del|DPAGT1_uc001pvk.3_In_Frame_Del_p.L214del|DPAGT1_uc001pvm.1_3'UTR|DPAGT1_uc010rza.2_In_Frame_Del_p.L279del	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	386					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488													---	897	---	---	10	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:119149356_119149358delATG	uc001pwe.3	+	8	1502_1504	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	460	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(2)|p.D460del(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	417	---	---	9	---					
SLC37A2	219855	broad.mit.edu	37	11	124949013	124949013	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:124949013delT	uc010sau.2	+	4	571	c.320delT	c.(319-321)gttfs	p.V107fs	SLC37A2_uc001qbn.3_Frame_Shift_Del_p.V107fs	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	107					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CCCAGTGGGGTTTTTGGGGAG	0.552													---	1550	---	---	9	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	-	-	rs144019095		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:6649704_6649706delGGC	uc010sfe.2	-	9	1713_1715	c.1659_1661delGCC	c.(1657-1662)ccgcca>cca	p.553_554PP>P	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_In_Frame_Del_p.182_183PP>P|IFFO1_uc001qpa.2_In_Frame_Del_p.181_182PP>P|IFFO1_uc001qpb.1_In_Frame_Del_p.218_219PP>P|IFFO1_uc001qpc.2_In_Frame_Del_p.545_546PP>P|IFFO1_uc001qpf.2_In_Frame_Del_p.544_545PP>P|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_In_Frame_Del_p.R181del	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													---	649	---	---	9	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	-	-	rs71584865	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:6711145_6711147delTCC	uc001qpo.3	-	3	581_583	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_uc001qpn.3_In_Frame_Del_p.E132del|CHD4_uc001qpp.3_In_Frame_Del_p.E136del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													---	339	---	---	12	---					
GPRC5A	9052	broad.mit.edu	37	12	13061365	13061365	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:13061365delG	uc001rba.3	+	1	832	c.182delG	c.(181-183)aggfs	p.R61fs		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	61						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GACTCCAACAGGCGAAAAATG	0.587													---	945	---	---	11	---					
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:46318575_46318577delGGT	uc001rox.3	-	11	4127_4129	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_uc001row.3_In_Frame_Del_p.965_966PP>P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1280	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483													---	861	---	---	11	---					
MLL2	8085	broad.mit.edu	37	12	49444933	49444933	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:49444933delG	uc001rta.4	-	9	2533	c.2533delC	c.(2533-2535)cggfs	p.R845fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	845	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCTCAGGCCGGGGGGACAGG	0.647			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	1181	---	---	11	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:50452565_50452567delGAG	uc001rvv.3	+	1	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_uc001rvw.3_In_Frame_Del_p.E9del|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_In_Frame_Del_p.E9del	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													---	756	---	---	10	---					
AMHR2	269	broad.mit.edu	37	12	53818999	53819001	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:53818999_53819001delCTG	uc001scx.2	+	3	555_557	c.475_477delCTG	c.(475-477)ctgdel	p.L162del	AMHR2_uc009zmy.2_In_Frame_Del_p.L162del|AMHR2_uc021qyg.1_In_Frame_Del_p.L162del	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	162					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTCCTCCTCCTGCTGCTGCTGG	0.591													---	909	---	---	7	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	1196	---	---	16	---					
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:55759486delT	uc010spk.2	+	0	592	c.592delT	c.(592-594)tttfs	p.F198fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393													---	644	---	---	10	---					
OR6C65	403282	broad.mit.edu	37	12	55794610	55794610	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:55794610delT	uc010spl.2	+	0	298	c.298delT	c.(298-300)tttfs	p.F100fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358													---	665	---	---	7	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:56558379_56558381delAGG	uc001skb.3	-	26	3380_3382	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													---	349	---	---	17	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:57674205_57674207delTGC	uc009zpm.1	-	11	1271_1273	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													---	627	---	---	14	---					
TSFM	10102	broad.mit.edu	37	12	58177067	58177068	+	Splice_Site	DEL	GT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:58177067_58177068delGT	uc001sqi.3	+	2	288	c.231_splice	c.e2+1	p.Q77_splice	TSFM_uc021qzq.1_Splice_Site_p.Q77_splice|TSFM_uc001sqh.3_Splice_Site_p.Q77_splice|TSFM_uc010ssf.2_Splice_Site_p.Q77_splice|TSFM_uc010sse.2_Splice_Site	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	77					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCTCAAACAGGTGTGTGTGTGG	0.559													---	1163	---	---	7	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:88524078_88524079insT	uc001tar.3	-	8	979_980	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_uc001tat.3_5'Flank|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	212					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													---	921	---	---	8	---					
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:102122901delT	uc001tir.3	-	7	782	c.643delA	c.(643-645)attfs	p.I215fs	CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tiq.3_Frame_Shift_Del_p.I215fs|SYCP3_uc001tis.3_Frame_Shift_Del_p.I215fs	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	215	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259													---	224	---	---	7	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:103695960delG	uc001tjt.2	-	5	1097	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													---	976	---	---	11	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:120595737_120595739delCTC	uc001txo.3	-	25	3014_3016	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													---	554	---	---	9	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:27250862_27250863delGT	uc001uqv.3	+	7	941	c.716_splice	c.e7+1	p.R239_splice	WASF3_uc001uqw.3_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	239					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													---	517	---	---	7	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:28367927_28367929delGGC	uc001urr.1	+	1	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													---	414	---	---	9	---					
FAM48A	55578	broad.mit.edu	37	13	37583899	37583901	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:37583899_37583901delTGC	uc001uwk.3	-	24	2629_2631	c.2381_2383delGCA	c.(2380-2385)agcaca>aca	p.S794del	FAM48A_uc010abt.3_In_Frame_Del_p.S716del|FAM48A_uc001uwg.3_In_Frame_Del_p.A750del|FAM48A_uc001uwh.3_In_Frame_Del_p.S716del|FAM48A_uc001uwi.3_In_Frame_Del_p.S715del|FAM48A_uc001uwj.3_In_Frame_Del_p.S716del|FAM48A_uc001uwd.3_In_Frame_Del_p.S202del|FAM48A_uc001uwe.3_In_Frame_Del_p.A234del|FAM48A_uc001uwf.3_In_Frame_Del_p.A316del	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	715					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GAGCTGTTTGTGCTGCTGCTGCT	0.448													---	737	---	---	7	---					
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	-	-	rs148625973		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:45148691_45148693delTGT	uc001uzn.4	-	0	2009_2011	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_uc001uzo.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	506	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502													---	813	---	---	9	---					
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	-	-	rs112613609		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:45148706_45148708delTGC	uc001uzn.4	-	0	1994_1996	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_uc001uzo.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	501	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													---	773	---	---	10	---					
DIS3	22894	broad.mit.edu	37	13	73337684	73337684	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:73337684delT	uc001vix.4	-	15	2406	c.2032delA	c.(2032-2034)attfs	p.I678fs	DIS3_uc001viy.4_Frame_Shift_Del_p.I648fs|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	678					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTCATGAATTTTTTTTGCA	0.358										Multiple Myeloma(4;0.011)			---	432	---	---	7	---					
LMO7	4008	broad.mit.edu	37	13	76415307	76415308	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:76415307_76415308delAG	uc021rkq.1	+	22	3980_3981	c.3645_3646delAG	c.(3643-3648)gcagagfs	p.A1215fs	LMO7_uc010thv.2_Frame_Shift_Del_p.A933fs|LMO7_uc001vjt.1_Frame_Shift_Del_p.A881fs|LMO7_uc001vjv.3_Frame_Shift_Del_p.A982fs|LMO7_uc010thw.2_Frame_Shift_Del_p.A859fs|LMO7_uc001vjw.1_Frame_Shift_Del_p.A888fs	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1267						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AACAGGAGGCAGAGAGAGAGAA	0.386													---	496	---	---	7	---					
KDELC1	79070	broad.mit.edu	37	13	103443722	103443722	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:103443722delT	uc001vpq.4	-	4	1115	c.731delA	c.(730-732)aagfs	p.K244fs	KDELC1_uc001vpr.4_Frame_Shift_Del_p.K25fs	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	244						endoplasmic reticulum lumen		p.K244*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418													---	1683	---	---	7	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:21961060_21961062delGCT	uc001waz.3	+	6	1388_1390	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_uc001way.3_In_Frame_Del_p.A304del|TOX4_uc010tlu.2_In_Frame_Del_p.A411del|TOX4_uc010tlv.2_In_Frame_Del_p.A304del	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	434	Gln/Pro-rich.|Poly-Ala.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													---	1162	---	---	8	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:23341527_23341529delCCT	uc001whd.3	+	0	568_570	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_uc001whe.3_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	11					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													---	661	---	---	30	---					
ACIN1	22985	broad.mit.edu	37	14	23528607	23528609	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:23528607_23528609delTCT	uc001wit.4	-	18	4102_4104	c.3774_3776delAGA	c.(3772-3777)gaagag>gag	p.1258_1259EE>E	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_In_Frame_Del_p.500_501EE>E|ACIN1_uc001wiq.4_In_Frame_Del_p.500_501EE>E|ACIN1_uc001wir.4_In_Frame_Del_p.531_532EE>E|ACIN1_uc001wis.4_In_Frame_Del_p.939_940EE>E|ACIN1_uc010akg.3_In_Frame_Del_p.1245_1246EE>E|ACIN1_uc010tnj.2_In_Frame_Del_p.1218_1219EE>E	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1258	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctccttttgctcttcttcttctt	0.601													---	377	---	---	7	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:35592700delT	uc001wsy.1	+	1	609	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.H83fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													---	336	---	---	13	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:45642288_45642289delCT	uc001wwd.4	+	12	2290_2291	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_uc010anf.3_Frame_Shift_Del_p.L705fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.L267fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	463	---	---	10	---					
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:88406276delT	uc001xvt.3	-	15	1991	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Frame_Shift_Del_p.K605fs|GALC_uc010tvx.2_Frame_Shift_Del_p.K602fs|GALC_uc010tvz.1_Frame_Shift_Del_p.K572fs	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	628					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308													---	1128	---	---	7	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:89629149_89629151delGAG	uc001xxo.4	-	6	1217_1219	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_uc001xxn.4_In_Frame_Del_p.338_339SS>S|FOXN3_uc010atk.3_In_Frame_Del_p.338_339SS>S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	360					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													---	314	---	---	13	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:93397924_93397926delGAG	uc001ybc.4	+	5	945_947	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_uc001ybd.4_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													---	230	---	---	8	---					
DDX24	57062	broad.mit.edu	37	14	94517596	94517598	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94517596_94517598delTCT	uc001ycj.3	-	8	2618_2620	c.2519_2521delAGA	c.(2518-2523)aagaca>aca	p.K840del	DDX24_uc010twq.2_In_Frame_Del_p.K797del|DDX24_uc010twr.2_In_Frame_Del_p.K590del	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	840	Poly-Lys.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCTTCTTTGTCTTCTTCTTCTT	0.512											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	636	---	---	9	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94545821_94545823delCCT	uc001ycj.3	-	1	365_367	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_uc010twq.2_In_Frame_Del_p.E46del|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													---	805	---	---	8	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	851	---	---	15	---					
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													---	464	---	---	7	---					
APBA2	321	broad.mit.edu	37	15	29346361	29346363	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:29346361_29346363delGAG	uc001zck.3	+	2	478_480	c.274_276delGAG	c.(274-276)gagdel	p.E95del	APBA2_uc010azj.2_In_Frame_Del_p.E95del|APBA2_uc010uat.2_In_Frame_Del_p.E95del|APBA2_uc001zcl.3_In_Frame_Del_p.E95del|APBA2_uc010uas.1_In_Frame_Del_p.E95del	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	95	Poly-Glu.				nervous system development|protein transport		protein binding	p.E95G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCCTCCCTGAGGAGGAGGAGG	0.601													---	1111	---	---	7	---					
RYR3	6263	broad.mit.edu	37	15	33962735	33962737	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:33962735_33962737delGGA	uc001zhi.3	+	37	5908_5910	c.5838_5840delGGA	c.(5836-5841)acggag>acg	p.E1950del	RYR3_uc010bar.3_In_Frame_Del_p.E1950del	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1950	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T1946T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCAGCCGACGGAGGAGGAGGAG	0.453													---	540	---	---	7	---					
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:40631782delC	uc001zlh.4	-	2	310	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													---	639	---	---	8	---					
SECISBP2L	9728	broad.mit.edu	37	15	49309051	49309051	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:49309051delT	uc001zxe.2	-	9	1677	c.1413delA	c.(1411-1413)aaafs	p.K471fs	SECISBP2L_uc001zxd.2_Frame_Shift_Del_p.K426fs|SECISBP2L_uc010bep.2_Frame_Shift_Del_p.K233fs|SECISBP2L_uc010beq.2_Frame_Shift_Del_p.K343fs	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	471										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTACCTGTAATTTTTTTTGCT	0.353													---	273	---	---	7	---					
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:59182525_59182526delTC	uc002afp.3	-	14	2121_2122	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	SLTM_uc002afn.3_Frame_Shift_Del_p.R220fs|SLTM_uc002afo.3_Frame_Shift_Del_p.R660fs|SLTM_uc002afq.3_Frame_Shift_Del_p.R247fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.R247fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	678	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431													---	1171	---	---	23	---					
ZNF609	23060	broad.mit.edu	37	15	64967247	64967247	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:64967247delA	uc002ann.3	+	3	2194	c.2194delA	c.(2194-2196)aaafs	p.K732fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	732	Poly-Lys.					nucleus	zinc ion binding	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAAAGACAAAAAAAAGAA	0.488													---	1088	---	---	12	---					
MESDC2	23184	broad.mit.edu	37	15	81271633	81271633	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:81271633delT	uc002bfy.1	-	2	705	c.632delA	c.(631-633)aagfs	p.K211fs	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	211					Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum		p.K211fs*6(2)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCTTCCTTCTTTTTTTTGCC	0.493													---	541	---	---	10	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	-	-	rs147271815		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:91550236_91550238delTCC	uc002bqp.1	-	8	996_998	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_uc002bqq.1_In_Frame_Del_p.E123del|VPS33B_uc010uqu.1_In_Frame_Del_p.E187del	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	214					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522													---	1075	---	---	9	---					
CHSY1	22856	broad.mit.edu	37	15	101717648	101717648	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:101717648delT	uc021sxt.1	-	2	2830	c.2354delA	c.(2353-2355)aatfs	p.N785fs	CHSY1_uc010usd.2_Frame_Shift_Del_p.N513fs	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	785					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTTGGATCATTTTTTTCCAG	0.428													---	595	---	---	9	---					
WDR90	197335	broad.mit.edu	37	16	709106	709106	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:709106delC	uc002cii.1	+	24	3086	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Del_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Del_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													---	826	---	---	9	---					
NAGPA	51172	broad.mit.edu	37	16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:5083678_5083679delGC	uc002cyg.3	-	1	164_165	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	ALG1_uc002cyj.3_5'Flank|NAGPA_uc002cyh.3_Non-coding_Transcript|NAGPA_uc010uxx.2_Frame_Shift_Del_p.R46fs|ALG1_uc021tco.1_5'Flank	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	46					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCGGGGGAGGCGCGCGCGCGC	0.767													---	141	---	---	9	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:15729982_15729984delCCA	uc002ddr.3	-	2	567_569	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_uc002ddq.3_In_Frame_Del_p.119_120GG>G|KIAA0430_uc010uzv.2_In_Frame_Del_p.120_121GG>G|KIAA0430_uc010uzw.2_In_Frame_Del_p.120_121GG>G|KIAA0430_uc010uzx.2_In_Frame_Del_p.119_120GG>G	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	119	Poly-Gly.					peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													---	945	---	---	8	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:30365550_30365552delCAT	uc002dxr.3	-	1	423_425	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_uc002dxs.3_In_Frame_Del_p.D57del	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	57					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													---	2253	---	---	10	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:55362674_55362676delGAG	uc002ehy.3	+	4	1317_1319	c.784_786delGAG	c.(784-786)gagdel	p.E268del	IRX6_uc002ehx.3_In_Frame_Del_p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													---	534	---	---	16	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	-	-	rs149029279		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:57486732_57486734delGAG	uc002elq.3	+	2	343_345	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_uc002elp.2_In_Frame_Del_p.E91del|COQ9_uc010vhn.2_In_Frame_Del_p.E91del|COQ9_uc010vho.2_In_Frame_Del_p.E91del|COQ9_uc010vhp.2_In_Frame_Del_p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													---	959	---	---	18	---					
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:67763279_67763281delGAG	uc002eud.3	-	9	1370_1372	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_uc010ceo.3_In_Frame_Del_p.189_190SS>S|RANBP10_uc010vju.2_In_Frame_Del_p.362_363SS>S|RANBP10_uc010vjv.2_In_Frame_Del_p.301_302SS>S|RANBP10_uc010vjw.1_In_Frame_Del_p.79_80SS>S	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	418	Ser-rich.							p.S418S(4)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567													---	412	---	---	11	---					
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:67913786_67913788delAGC	uc002eur.3	+	15	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	EDC4_uc010cer.3_In_Frame_Del_p.S248del|EDC4_uc010vkg.1_In_Frame_Del_p.S561del|EDC4_uc002eus.3_In_Frame_Del_p.S359del|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616													---	546	---	---	10	---					
PSMB10	5699	broad.mit.edu	37	16	67968781	67968781	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:67968781delC	uc002eux.2	-	6	757	c.629delG	c.(628-630)ggcfs	p.G210fs		NM_002801	NP_002792	P40306	PSB10_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA.	210					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTCCACATTGCCCCCGGAGCC	0.637													---	1755	---	---	7	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:68718504delA	uc002ewf.2	+	9	2333	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_uc010vli.1_Frame_Shift_Del_p.K346fs	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													---	2480	---	---	7	---					
ZFHX3	463	broad.mit.edu	37	16	72831197	72831199	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72831197_72831199delTGC	uc002fck.3	-	8	6055_6057	c.5382_5384delGCA	c.(5380-5385)cagcac>cac	p.Q1794del	ZFHX3_uc002fcl.3_In_Frame_Del_p.Q880del	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1794	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGAGGAGGTGCTGCTGCTGCT	0.576													---	944	---	---	11	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72991713_72991715delCCA	uc002fck.3	-	1	3003_3005	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													---	425	---	---	7	---					
ZCCHC14	23174	broad.mit.edu	37	16	87445610	87445612	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:87445610_87445612delTGG	uc002fjz.1	-	11	2331_2333	c.2304_2306delCCA	c.(2302-2307)caccat>cat	p.768_769HH>H	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_In_Frame_Del_p.544_545HH>H	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	768	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGCtgatggtggtggtggt	0.665													---	542	---	---	18	---					
C17orf74	201243	broad.mit.edu	37	17	7329686	7329688	+	In_Frame_Del	DEL	CGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7329686_7329688delCGC	uc002ggw.3	+	2	449_451	c.376_378delCGC	c.(376-378)cgcdel	p.R130del	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	130	Arg-rich.					integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGTGTTcgtcgccgccgccgcc	0.606													---	610	---	---	8	---					
PIK3R5	23533	broad.mit.edu	37	17	8792116	8792118	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:8792116_8792118delCCT	uc002glt.3	-	9	1053_1055	c.986_988delAGG	c.(985-990)gaggtg>gtg	p.E329del	PIK3R5_uc010vuz.2_In_Frame_Del_p.E329del|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	329				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctccacctcctcctcctc	0.571													---	193	---	---	9	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:12647692_12647694delCAG	uc002gno.2	+	7	1209_1211	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_uc002gnn.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.Q309Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													---	232	---	---	8	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													---	652	---	---	7	---					
TIAF1	9220	broad.mit.edu	37	17	27401055	27401056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:27401055_27401056delCA	uc002hdv.1	-	0	1572_1573	c.162_163delTG	c.(160-165)tgtggafs	p.C54fs	MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	NM_004740	NP_004731	O95411	TIAF1_HUMAN	Homo sapiens TGFB1-induced anti-apoptotic factor 1 (TIAF1), mRNA.	54					I-kappaB kinase/NF-kappaB cascade|anti-apoptosis|apoptosis	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGGATGGTCCACACACACACT	0.564													---	723	---	---	9	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	512	---	---	17	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	Splice_Site	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	-	rs483929	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	uc002hwe.4	-	2	287	c.246_splice	c.e2-1	p.S82_splice		NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	Homo sapiens keratin associated protein 4-1 (KRTAP4-1), mRNA.	101	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													---	593	---	---	111	---					
LRRC37A2	474170	broad.mit.edu	37	17	45127218	45127219	+	Frame_Shift_Del	DEL	AC	-	-	rs114929602	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:45127218_45127219delAC	uc010wkj.1	+	1	770_771	c.416_417delAC	c.(415-417)aacfs	p.N139fs	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1275						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TGGAAAGACAACACACACACTA	0.455													---	510	---	---	38	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:46622130_46622132delAGG	uc002inm.3	-	0	262_264	c.142_144delCCT	c.(142-144)cctdel	p.P48del		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													---	676	---	---	7	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:56387404_56387406delTCC	uc002ivx.4	-	20	4684_4686	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_uc010dcs.3_In_Frame_Del_p.1211_1212EE>E|BZRAP1_uc010wnt.2_In_Frame_Del_p.1271_1272EE>E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1271	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													---	434	---	---	9	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:71281585_71281587delTCC	uc002jjn.3	-	1	1200_1202	c.1053_1055delGGA	c.(1051-1056)gaggat>gat	p.E351del	CDC42EP4_uc002jjo.3_In_Frame_Del_p.E351del|CDC42EP4_uc002jjp.1_In_Frame_Del_p.E281del|CDC42EP4_uc021ucn.1_In_Frame_Del_p.E351del	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													---	815	---	---	12	---					
GPRC5C	55890	broad.mit.edu	37	17	72436565	72436567	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:72436565_72436567delTGC	uc002jkp.3	+	1	1296_1298	c.785_787delTGC	c.(784-789)atgctg>atg	p.L266del	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_In_Frame_Del_p.L233del|GPRC5C_uc002jkt.3_In_Frame_Del_p.L221del|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	221						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ATCTACGTCATGCTGCTGCTGCT	0.665													---	309	---	---	7	---					
HEXDC	284004	broad.mit.edu	37	17	80398933	80398933	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:80398933delA	uc002kev.4	+	9	1459	c.1043delA	c.(1042-1044)gaafs	p.E348fs	HEXDC_uc002kew.3_Frame_Shift_Del_p.E348fs|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	348					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCAGCCTGGAAAAAACGGAC	0.577													---	2077	---	---	8	---					
ROCK1	6093	broad.mit.edu	37	18	18608802	18608802	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:18608802delA	uc002kte.3	-	9	2087	c.1146delT	c.(1144-1146)cctfs	p.P382fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	382	AGC-kinase C-terminal.|Interaction with FHOD1.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTAGGAATAGGGAATGTTT	0.358													---	497	---	---	100	---					
TRAPPC8	22878	broad.mit.edu	37	18	29453418	29453418	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:29453418delA	uc002kxc.4	-	13	2401	c.2037delT	c.(2035-2037)tttfs	p.F679fs	TRAPPC8_uc002kxb.4_Frame_Shift_Del_p.F625fs|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	679					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATGGCCAAAAAAAACCC	0.358													---	252	---	---	8	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:55103477_55103479delCAC	uc002lgo.3	+	0	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													---	88	---	---	8	---					
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:1578372_1578374delCTC	uc002ltj.3	-	5	863_865	c.841_843delGAG	c.(841-843)gagdel	p.E281del	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_In_Frame_Del_p.E249del|MBD3_uc002ltl.1_In_Frame_Del_p.E281del	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	281	Poly-Glu.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714													---	225	---	---	9	---					
RETN	56729	broad.mit.edu	37	19	7734228	7734230	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:7734228_7734230delCTC	uc002mhg.1	+	1	53_55	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_uc002mhf.1_In_Frame_Del_p.L9del|RETN_uc010dvm.1_Non-coding_Transcript	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	9							hormone activity			ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596													---	1207	---	---	8	---					
CCDC151	115948	broad.mit.edu	37	19	11541818	11541818	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11541818delA	uc002mrs.3	-	1	410	c.267delT	c.(265-267)tttfs	p.F89fs	CCDC151_uc002mrr.3_Frame_Shift_Del_p.F24fs|CCDC151_uc010dxz.3_Frame_Shift_Del_p.F89fs	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	89										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GAGAGCTCTCAAAAAAAGCCT	0.537													---	1208	---	---	7	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:12461741delA	uc002mtr.1	-	5	1269	c.658delT	c.(658-660)tggfs	p.W220fs	ZNF442_uc010xmk.1_Frame_Shift_Del_p.W151fs	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													---	929	---	---	9	---					
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	-	-	rs148655062	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:13873132_13873134delAGG	uc002mxc.1	+	8	810_812	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	202					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586													---	864	---	---	9	---					
CHERP	10523	broad.mit.edu	37	19	16633994	16633994	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:16633994delG	uc002nei.1	-	10	1923	c.1849delC	c.(1849-1851)catfs	p.H617fs	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Frame_Shift_Del_p.H156fs	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	617	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTGAAGCCATGGGGGGGAGGG	0.672													---	887	---	---	8	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:19136394delT	uc002nkz.1	-	2	825	c.805delA	c.(805-807)atafs	p.I269fs	SUGP2_uc002nkx.2_Frame_Shift_Del_p.I255fs|SUGP2_uc002nla.1_Frame_Shift_Del_p.I255fs|SUGP2_uc002nlb.2_Frame_Shift_Del_p.I255fs|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	255					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													---	1056	---	---	15	---					
C19orf12	83636	broad.mit.edu	37	19	30193878	30193879	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:30193878_30193879insC	uc002nsj.3	-	2	326_327	c.199_200insG	c.(199-201)gctfs	p.A67fs	C19orf12_uc002nsk.3_Frame_Shift_Ins_p.A56fs|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	56						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCCGACAGCCCCCCCTAGA	0.525													---	723	---	---	12	---					
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:33666419_33666421delTCA	uc002nui.3	+	10	1438_1440	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527													---	854	---	---	7	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:36019046_36019047delCT	uc002oad.2	-	0	207_208	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_uc002oae.2_Frame_Shift_Del_p.E46fs|SBSN_uc021usp.1_Frame_Shift_Del_p.E46fs	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	46						extracellular region		p.E46fs*27(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													---	1126	---	---	7	---					
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:36054349_36054351delCTT	uc002oal.1	-	1	120_122	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	31					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601													---	1876	---	---	7	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:36255947_36255949delCTC	uc021usz.1	+	6	712_714	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													---	1491	---	---	10	---					
ZNF570	148268	broad.mit.edu	37	19	37975121	37975122	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:37975121_37975122insA	uc010efl.1	+	5	884_885	c.765_766insA	c.(763-768)tttaaafs	p.F255fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.F199fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAGCTTTAAAAAAAATTT	0.366													---	956	---	---	12	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:38948159_38948160delTG	uc002oit.3	+	16	1944_1945	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Del_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													---	1497	---	---	12	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:39898948_39898950delCAC	uc002olh.1	+	1	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	201					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													---	1565	---	---	10	---					
C19orf47	126526	broad.mit.edu	37	19	40834399	40834399	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:40834399delG	uc002oni.4	-	5	472	c.471delC	c.(469-471)cccfs	p.P157fs	C19orf47_uc002ong.3_Frame_Shift_Del_p.P16fs|C19orf47_uc002onh.3_Frame_Shift_Del_p.P90fs	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	157										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612													---	1478	---	---	7	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:40900180_40900182delTCC	uc002onr.3	-	6	4346_4348	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_uc002onq.3_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													---	172	---	---	10	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:42753149_42753151delGAA	uc002ote.4	-	3	1271_1273	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_uc002otd.4_In_Frame_Del_p.102_103SS>S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													---	661	---	---	7	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	958	---	---	13	---					
ZNF428	126299	broad.mit.edu	37	19	44111875	44111877	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:44111875_44111877delTCC	uc002oxa.3	-	2	894_896	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	153	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.660													---	225	---	---	7	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:47883158_47883160delGGA	uc010xyn.2	+	13	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del	DHX34_uc010xyo.1_In_Frame_Del_p.E100del	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	971						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													---	356	---	---	13	---					
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:49425109_49425111delAGC	uc002plb.4	+	11	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_In_Frame_Del_p.Q70del	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	407	Poly-Gln.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.640													---	349	---	---	8	---					
HRC	3270	broad.mit.edu	37	19	49656769	49656771	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:49656769_49656771delCCT	uc002pmv.3	-	0	1911_1913	c.1724_1726delAGG	c.(1723-1728)gagggg>ggg	p.E575del		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	575					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctccagcccctcctcctcctc	0.635													---	149	---	---	7	---					
U2AF2	11338	broad.mit.edu	37	19	56171899	56171901	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:56171899_56171901delAGA	uc002qlu.3	+	3	1303_1305	c.248_250delAGA	c.(247-252)gagaag>gag	p.K87del	U2AF2_uc002qlt.3_In_Frame_Del_p.K87del	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	87					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCCGCCACGAGAAGAAGAAGAA	0.645													---	352	---	---	8	---					
ZNF211	10520	broad.mit.edu	37	19	58153483	58153484	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:58153483_58153484insA	uc002qpr.2	+	5	2124_2125	c.1821_1822insA	c.(1819-1824)gggaaafs	p.G607fs	ZNF211_uc010yhb.1_Frame_Shift_Ins_p.G547fs|ZNF211_uc002qpp.2_Frame_Shift_Ins_p.G556fs|ZNF211_uc002qpq.2_Frame_Shift_Ins_p.G543fs|ZNF211_uc002qpt.2_Frame_Shift_Ins_p.G555fs|ZNF211_uc010yhc.1_Frame_Shift_Ins_p.G555fs|ZNF211_uc010yhe.1_Frame_Shift_Ins_p.G534fs|ZNF211_uc010yhd.1_Frame_Shift_Ins_p.G482fs	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K557E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAATGTGGGAAATCCTTTGG	0.431													---	1033	---	---	7	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:5903283_5903285delGAG	uc002wmg.3	+	3	799_801	c.493_495delGAG	c.(493-495)gagdel	p.E169del	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													---	416	---	---	10	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	506	---	---	33	---					
MAP1LC3A	84557	broad.mit.edu	37	20	33147601	33147604	+	Frame_Shift_Del	DEL	GTGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33147601_33147604delGTGA	uc002xaq.1	+	3	419_422	c.265_268delGTGA	c.(265-270)gtgagtfs	p.V89fs	MAP1LC3A_uc002xap.1_Frame_Shift_Del_p.V93fs	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	89					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GCACAGCATGGTGAGTGTGTCCAC	0.618													---	583	---	---	210	---					
ACSS2	55902	broad.mit.edu	37	20	33508844	33508844	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33508844delC	uc010gey.2	+	10	1339	c.1218delC	c.(1216-1218)cgcfs	p.R406fs	ACSS2_uc002xbc.2_Frame_Shift_Del_p.R298fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Del_p.R393fs|ACSS2_uc002xbe.2_Frame_Shift_Del_p.R101fs	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	393					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACGTGAACCGCCTGTGGAGCA	0.502													---	1624	---	---	13	---					
RTEL1	51750	broad.mit.edu	37	20	62292822	62292824	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:62292822_62292824delGCT	uc021wge.1	+	1	444_446	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.A96del|RTEL1_uc011abd.2_In_Frame_Del_p.A96del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_In_Frame_Del_p.A96del|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	96	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645													---	300	---	---	9	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:43221415_43221417delCTG	uc002yzq.1	-	30	4618_4620	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_uc002yzo.3_In_Frame_Del_p.Q1174del|PRDM15_uc002yzp.3_In_Frame_Del_p.Q1194del|PRDM15_uc002yzr.1_In_Frame_Del_p.Q1194del	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1503	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													---	653	---	---	7	---					
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	A	A	rs149217788	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:45472274_45472275insA	uc002zea.3	+	3	568_569	c.399_400insA	c.(397-402)aagaaafs	p.K133fs	TRAPPC10_uc010gpo.3_5'UTR|TRAPPC10_uc002zdz.3_Frame_Shift_Ins_p.K133fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.K133N(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356													---	534	---	---	8	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	480	---	---	12	---					
SLC19A1	6573	broad.mit.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:46951916_46951918delCAG	uc002zhl.2	-	2	487_489	c.334_336delCTG	c.(334-336)ctgdel	p.L112del	SLC19A1_uc010gpy.1_In_Frame_Del_p.L112del|SLC19A1_uc011aft.2_In_Frame_Del_p.L72del|SLC19A1_uc002zhm.2_In_Frame_Del_p.L112del|SLC19A1_uc010gpz.2_5'UTR	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	112					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGAGTGGCCCAGCAGCAGCAGC	0.645													---	197	---	---	7	---					
NF2	4771	broad.mit.edu	37	22	30050682	30050682	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:30050682delT	uc003age.4	+	4	927	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_uc003afy.4_Frame_Shift_Del_p.F162fs|NF2_uc003afz.4_Frame_Shift_Del_p.F79fs|NF2_uc003agf.4_Frame_Shift_Del_p.F162fs|NF2_uc003agb.4_Frame_Shift_Del_p.F85fs|NF2_uc003agc.4_Frame_Shift_Del_p.F124fs|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Frame_Shift_Del_p.F162fs|NF2_uc003aga.4_Frame_Shift_Del_p.F120fs|NF2_uc003agh.4_Frame_Shift_Del_p.F121fs|NF2_uc003agi.4_Frame_Shift_Del_p.F79fs|NF2_uc003agj.4_Intron	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	162	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.G161fs*13(2)|p.L127_D382del(1)|p.G161*(1)|p.A145_L163del(1)|p.L140_P252del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CAAGCGGGGATTTTTGGCCCA	0.423			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	1028	---	---	7	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	654	---	---	20	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	-	rs113792005	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	uc003auw.3	-	11	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	BAIAP2L2_uc003auv.3_Non-coding_Transcript	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	441					filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674													---	113	---	---	13	---					
SGSM3	27352	broad.mit.edu	37	22	40801679	40801681	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:40801679_40801681delGGA	uc003ayu.1	+	7	854_856	c.645_647delGGA	c.(643-648)ctggag>ctg	p.E218del	SGSM3_uc010gyc.1_In_Frame_Del_p.E218del|SGSM3_uc011aos.1_In_Frame_Del_p.E151del|SGSM3_uc011aot.1_In_Frame_Del_p.E155del	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	218	Rab-GAP TBC.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGCTGTTCCTGGAGGAGGAGGAC	0.621													---	1935	---	---	7	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42262949_42262951delGCA	uc003bbi.3	+	1	372_374	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	74	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													---	575	---	---	16	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42605990_42605992delCTG	uc003bcj.1	-	0	5454_5456	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_uc003bck.1_In_Frame_Del_p.Q1774del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601													---	971	---	---	15	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	881	---	---	37	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	760	---	---	24	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:43525245_43525247delGCT	uc003bdk.3	+	4	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	144	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													---	376	---	---	13	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:16850849_16850850delAG	uc004cxq.2	+	5	1024_1025	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_uc010ney.2_Frame_Shift_Del_p.Q191fs|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													---	276	---	---	7	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	218	---	---	8	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:102004419_102004421delGAG	uc022cbi.1	+	0	496_498	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_uc010nog.3_In_Frame_Del_p.E171del|BHLHB9_uc011mrq.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.2_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.3_In_Frame_Del_p.E171del|BHLHB9_uc011mru.2_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.2_In_Frame_Del_p.E171del	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													---	768	---	---	20	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			---	388	---	---	7	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:135585048_135585050delAAG	uc004ezw.3	+	5	1104_1106	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_uc004ezx.3_In_Frame_Del_p.K232del	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													---	325	---	---	7	---					
SPANXN3	139067	broad.mit.edu	37	X	142605149	142605149	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:142605149delT	uc004fbw.3	-	0	159	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453													---	536	---	---	12	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	-	-	rs7877654	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:149937526_149937528delGGC	uc004fek.3	-	11	1026_1028	c.798_800delGCC	c.(796-801)ccgccc>ccc	p.266_267PP>P	CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	256					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													---	778	---	---	7	---					
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:149984524_149984526delGTG	uc004fek.3	-	2	384_386	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_uc011myb.2_In_Frame_Del_p.52_53TT>T|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.52_53TT>T|CD99L2_uc004fem.3_Intron|CD99L2_uc004fen.3_Intron	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													---	889	---	---	10	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													---	537	---	---	13	---					
