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
LPPR2	64748	broad.mit.edu	37	19	11475041	11475041	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:11475041G>A	uc002mrf.2	+	9	1335	c.959G>A	c.(958-960)cGc>cAc	p.R320H	LPPR2_uc002mre.2_Missense_Mutation_p.A340T|LPPR2_uc010dxy.2_Missense_Mutation_p.R152H	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	0						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						AACTGCGCCCGCCGTGGCCAC	0.637000														85			7		0	0	0.003080	0	0
CR1	1378	broad.mit.edu	37	1	207669664	207669664	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:207669664G>A	uc001hfy.3	+	0	192	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CR1_uc009xcl.1_Missense_Mutation_p.G18S|CR1_uc001hfx.3_Missense_Mutation_p.G18S|CR1_uc021pij.1_Missense_Mutation_p.G18S|CR1_uc010psg.1_Missense_Mutation_p.G18S|CR1_uc009xcj.1_Missense_Mutation_p.G18S|CR1_uc009xck.1_Missense_Mutation_p.G18S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	18					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCGGCGCCCGGTCTCCCCTT	0.662000														140			11		0	0	0.010729	0	0
GHDC	84514	broad.mit.edu	37	17	40341794	40341794	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:40341794A>G	uc002hzd.3	-	8	2004	c.1520T>C	c.(1519-1521)tTc>tCc	p.F507S	GHDC_uc002hzg.2_Missense_Mutation_p.F507S|GHDC_uc010wgg.2_Missense_Mutation_p.F468S|GHDC_uc002hze.4_3'UTR|GHDC_uc002hzf.4_Missense_Mutation_p.F507S	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	507						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGCAGGGGGGAAGGGGGAGGA	0.716000														49			3		0	0	0.014758	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345894	24345894	+	RNA	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:24345894C>A	uc010edb.1	-	0		c.356G>T								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		ATTTTCATGTCATTGAACCAC	0.453000														252			8		5.18039e-06	5.4702e-06	0.003080	1	0
PBRM1	55193	broad.mit.edu	37	3	52649473	52649473	+	Splice_Site	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:52649473C>T	uc003des.2	-	15	1831	c.1819_splice	c.e15-1	p.V607_splice	PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.V607_splice|PBRM1_uc003der.2_Splice_Site_p.V575_splice|PBRM1_uc003det.2_Splice_Site_p.V622_splice|PBRM1_uc003deu.2_Splice_Site_p.V622_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.V607_splice|PBRM1_uc010hmk.1_Splice_Site_p.V607_splice|PBRM1_uc003dey.2_Splice_Site_p.V607_splice|PBRM1_uc003dez.1_Splice_Site_p.V607_splice|PBRM1_uc003dfb.1_Splice_Site_p.V520_splice|PBRM1_uc003dfc.3_Splice_Site	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	607	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTATAAACCTACATTCCAA	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									252			22		0	0	0.014323	0	0
NTRK2	4915	broad.mit.edu	37	9	87635240	87635240	+	Silent	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:87635240C>A	uc004aoa.1	+	18	3182	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	NTRK2_uc004anz.1_Silent_p.T764T	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	748	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGATTTTCACCTATGGCAAAC	0.557000										TSP Lung(25;0.17)				626			27		8.88839e-20	9.7967e-20	0.010818	1	0
KPRP	448834	broad.mit.edu	37	1	152732688	152732688	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152732688C>T	uc001fal.1	+	1	682	c.624C>T	c.(622-624)ttC>ttT	p.F208F	KPRP_uc021ozf.1_Silent_p.F208F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	208	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCCAGTTCCAGTTGAGGC	0.562000														784			49		0	0	0.014410	0	0
P2RY4	5030	broad.mit.edu	37	X	69478844	69478844	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:69478844C>T	uc004dxz.1	-	0	811	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGGCAGGGCACGCCAAAGAGC	0.587000														170			8		0	0	0.006214	0	0
CROCC	9696	broad.mit.edu	37	1	17250968	17250968	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:17250968C>T	uc001azt.2	+	2	414	c.345C>T	c.(343-345)agC>agT	p.S115S	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	115					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ATGCGGTCAGCGAGAGGGTGG	0.647000														133			6		0	0	0.001984	0	0
UGGT2	55757	broad.mit.edu	37	13	96592266	96592266	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:96592266T>C	uc001vmt.3	-	15	1927	c.1757A>G	c.(1756-1758)cAt>cGt	p.H586R		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	586					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATATTAGCATGAGGAAATGT	0.333000														578			93		0	0	0.014410	0	0
REG3A	5068	broad.mit.edu	37	2	79384703	79384703	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:79384703C>T	uc002sod.2	-	3	803	c.455G>A	c.(454-456)aGc>aAc	p.S152N	REG3A_uc002soe.2_Missense_Mutation_p.S152N|REG3A_uc002sof.2_Missense_Mutation_p.S152N	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	152	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.R151K(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTTACCTGTGCTTCTCGACAG	0.512000														579			26		0	0	0.005443	0	0
WASH7P	653635	broad.mit.edu	37	1	15029	15029	+	RNA	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:15029G>A	uc009vis.3	-	2		c.316C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		ACCTTGGCTCGTGGCTCTCAC	0.632000														28			6		0	0	0.013537	0	0
FAM59A	64762	broad.mit.edu	37	18	29867104	29867104	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:29867104G>A	uc002kxl.3	-	3	1512	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	FAM59A_uc002kxk.2_Nonsense_Mutation_p.R486*	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	486										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CATTTGGATCGGACAGAACCT	0.552000														611			19		0	0	0.012319	0	0
LRP2	4036	broad.mit.edu	37	2	170177381	170177381	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:170177381C>T	uc002ues.3	-	1	306	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_uc010zdf.1_Silent_p.A31A	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	31	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.A31A(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGAAAATGCGCACTGTCAC	0.388000														349			17		0	0	0.004990	0	0
C16orf89	146556	broad.mit.edu	37	16	5112524	5112524	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:5112524G>A	uc010bud.3	-	1	497	c.260C>T	c.(259-261)cCg>cTg	p.P87L	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.P87L	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	87						extracellular region		p.P125L(2)|p.P87L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCAGCGGCTGCAGCAG	0.562000														417			19		0	0	0.012319	0	0
CA8	767	broad.mit.edu	37	8	61139438	61139438	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:61139438C>G	uc003xtz.1	-	4	818	c.570G>C	c.(568-570)caG>caC	p.Q190H	CA8_uc003xua.1_Missense_Mutation_p.Q190H	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	190					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TTACCTTATACTGAATATCTT	0.393000														220			11		0	0	0.010729	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685021	75685021	+	Missense_Mutation	SNP	G	A	A	rs148437935	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:75685021G>A	uc010oqz.1	-	14	1370	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	SLC44A5_uc001dgt.2_Missense_Mutation_p.A396V|SLC44A5_uc001dgs.2_Missense_Mutation_p.A354V|SLC44A5_uc001dgr.2_Missense_Mutation_p.A354V|SLC44A5_uc001dgu.3_Missense_Mutation_p.A396V|SLC44A5_uc010ora.2_Missense_Mutation_p.A390V|SLC44A5_uc010orb.2_Missense_Mutation_p.A266V	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCGATGTCGCCAAGAAACT	0.393000														306			12		0	0	0.013537	0	0
RS1	6247	broad.mit.edu	37	X	18674869	18674869	+	Missense_Mutation	SNP	C	T	T	rs146477940	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:18674869C>T	uc004cyo.3	-	2	123	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	30					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAGGGGTCCTCGCCTTCATCC	0.557000														559			38		0	0	0.006999	0	0
LOC650623	650623	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	G	G	rs150975459	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:81443821C>G	uc010qlu.2	+	0		c.1091C>G								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		GCAGCACCATCGCCTCAGACC	0.612000														109			3		0	0	0.014758	0	0
ADAD2	161931	broad.mit.edu	37	16	84228111	84228111	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:84228111C>T	uc002fhq.2	+	2	812	c.698C>T	c.(697-699)gCg>gTg	p.A233V	ADAD2_uc002fhr.2_Missense_Mutation_p.A161V|AK123582_uc002fhs.1_Silent_p.S84S	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	161					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCGGGCACTGCGAATAGCAAG	0.652000														88			7		0	0	0.008291	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				116			14		1.49906e-05	1.57193e-05	0.020292	1	0
ATP2B3	492	broad.mit.edu	37	X	152807149	152807149	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152807149C>T	uc004fht.1	+	2	555	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ATP2B3_uc004fhs.1_Silent_p.G143G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	143					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGGAGGCGCAGAAGATG	0.607000														372			21		0	0	0.010504	0	0
MRPS24	64951	broad.mit.edu	37	7	43909090	43909090	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:43909090G>A	uc003tit.1	-	0	56	c.5C>T	c.(4-6)gCg>gTg	p.A2V	URGCP_uc022acg.1_Intron	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	2					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CACGGAGGCCGCCATCTTGGG	0.697000														26			3		0	0	0.004672	0	0
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	A	A	rs3817753		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:16327903C>A	uc003nbt.3	-	7	1610	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q213H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	213	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)				gctgctgctgctgctgatgct	0.667000														39			15		2.62699e-14	2.87446e-14	0.003163	1	0
KRT77	374454	broad.mit.edu	37	12	53097128	53097128	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:53097128T>C	uc001saw.3	-	0	120	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	31	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGCCGGACTCCCACCACCA	0.532000														282			8		0	0	0.003080	0	0
BMP8A	353500	broad.mit.edu	37	1	39988771	39988771	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:39988771C>T	uc001cdi.3	+	5	1387	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	PPIEL_uc001cdj.2_Intron|PPIEL_uc001cdk.3_Intron	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	Homo sapiens bone morphogenetic protein 8a (BMP8A), mRNA.	347					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCAACCACGCCATCCTGC	0.677000														745			22		0	0	0.004656	0	0
APOB	338	broad.mit.edu	37	2	21233909	21233909	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:21233909T>C	uc002red.3	-	25	5959	c.5831A>G	c.(5830-5832)cAt>cGt	p.H1944R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1944					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)	TTTGTAATCATGAGAGAAAGT	0.468000														768			32		0	0	0.010818	0	0
KCNA6	3742	broad.mit.edu	37	12	4919409	4919409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:4919409G>A	uc001qng.3	+	0	1068	c.202G>A	c.(202-204)Gga>Aga	p.G68R	KCNA6_uc021qtr.1_Missense_Mutation_p.G68R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACGCTGCTCGGAGACCCTGG	0.617000										HNSCC(72;0.22)				345			10		0	0	0.008291	0	0
ADCYAP1	116	broad.mit.edu	37	18	909532	909532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:909532C>T	uc010dkg.3	+	4	546	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ADCYAP1_uc010dkh.3_Missense_Mutation_p.R143C	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	143					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCTACAGCCGCTACCGGAA	0.577000														715			24		0	0	0.006320	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370343	35370343	+	Silent	SNP	C	T	T	rs142633506		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:35370343C>T	uc001byc.3	-	0	642	c.642G>A	c.(640-642)ccG>ccA	p.P214P		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	214					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGCCCGGGCCGGGGT	0.652000														297			24		0	0	0.018920	0	0
NTM	50863	broad.mit.edu	37	11	132180047	132180047	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:132180047G>A	uc010sci.2	+	5	1034	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NTM_uc001qgm.3_Missense_Mutation_p.V235M|NTM_uc010sch.2_Missense_Mutation_p.V226M|NTM_uc010scj.2_Missense_Mutation_p.V194M|NTM_uc001qgo.3_Missense_Mutation_p.V235M|NTM_uc001qgq.3_Missense_Mutation_p.V235M|NTM_uc001qgp.3_Missense_Mutation_p.V235M	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	235	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGTGTCCCCGTGGGACAAAA	0.468000														631			42		0	0	0.014410	0	0
MUC20	200958	broad.mit.edu	37	3	195453211	195453211	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195453211C>T	uc010hzo.3	+	2	1350	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	MUC20_uc010hzp.3_Silent_p.A373A|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	579					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTCGGAAGCCGCCCTCAAGA	0.602000														440			10		0	0	0.006214	0	0
FN1	2335	broad.mit.edu	37	2	216271856	216271856	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:216271856G>A	uc002vfa.3	-	17	2973	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	FN1_uc002vfc.3_Missense_Mutation_p.R903C|FN1_uc002vfe.3_Missense_Mutation_p.R903C|FN1_uc002vff.3_Missense_Mutation_p.R903C|FN1_uc002vfg.3_Missense_Mutation_p.R903C|FN1_uc002vfh.3_Missense_Mutation_p.R903C|FN1_uc002vfi.3_Missense_Mutation_p.R903C|FN1_uc002vfj.3_Missense_Mutation_p.R903C|FN1_uc002vfb.3_Missense_Mutation_p.R903C	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	903					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.P902Q(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACCTGAGCGTGGGGTGCCA	0.408000														412			17		0	0	0.010504	0	0
AX748230	0	broad.mit.edu	37	5	180651883	180651883	+	Silent	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:180651883A>G	uc003mnb.1	-	1	329	c.9T>C	c.(7-9)ccT>ccC	p.P3P	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|TRIM41_uc003mnc.2_Intron|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mne.2_Intron					Homo sapiens cDNA FLJ36305 fis, clone THYMU2004677.																		ACCTGGGAAAAGGAAACATCT	0.488000														105			4		0	0	0.009096	0	0
DDB1	1642	broad.mit.edu	37	11	61091563	61091563	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091563C>G	uc001nrc.4	-	6	1035	c.809G>C	c.(808-810)aGa>aCa	p.R270T	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R270T|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.R270T|DDB1_uc009ynl.1_Missense_Mutation_p.R157T	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	270	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCAGGTATCTTGAGCCATT	0.493000								Nucleotide excision repair (NER)						737			18		0	0	0.010504	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														39			3		0	0	0.004672	0	0
LOC441666	441666	broad.mit.edu	37	10	42832431	42832431	+	RNA	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:42832431A>G	uc010qey.2	-	2		c.1544T>C								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TCTTGTGTATAGTAAGGTTTG	0.373000														64			3		0	0	0.006214	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997831	72997831	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:72997831A>C	uc002lly.3	+	1	897	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	TSHZ1_uc021uln.1_Missense_Mutation_p.T112P	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	157	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T112P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ctccgcccccacccccacacc	0.647000														60			10		0	0	0.012319	0	0
KRT75	9119	broad.mit.edu	37	12	52827640	52827640	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52827640C>T	uc001saj.2	-	0	471	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	150	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.R150R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATCTGCTCGCGCTCCTCGGC	0.562000														684			30		0	0	0.010818	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	A	A	rs112615235	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			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)		TTCCTTGGCAGTGGATAAGTT	0.393000														128			7		0	0	0.008291	0	0
NLRP5	126206	broad.mit.edu	37	19	56538511	56538511	+	Silent	SNP	G	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:56538511G>T	uc002qmj.3	+	6	912	c.912G>T	c.(910-912)gcG>gcT	p.A304A	NLRP5_uc002qmi.3_Silent_p.A285A	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	304	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGCTGGGCGCAAGGTGGAC	0.562000														60			5		3.59834e-05	3.74723e-05	0.001168	1	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)				234			21		0	0	0.016522	0	0
LRRC43	254050	broad.mit.edu	37	12	122687867	122687867	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:122687867C>T	uc009zxm.3	+	11	1874	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	LRRC43_uc001ubw.4_Missense_Mutation_p.P432S|LRRC43_uc009zxn.3_Missense_Mutation_p.P378S|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	617										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCAGAAAAGCCGAAAGCCGT	0.607000														375			22		0	0	0.016522	0	0
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:5771561C>A	uc010jnv.1	+	6	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_uc003mwr.2_Missense_Mutation_p.R419S	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	419	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592000														361			7		8.12818e-05	8.40655e-05	0.001984	1	0
DQ572979	0	broad.mit.edu	37	15	31092951	31092951	+	Splice_Site	SNP	G	A	A	rs34190638	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:31092951G>A	uc001zfb.3	-	1		c.33_splice	c.e1+1		DQ595055_uc001zfa.3_5'Flank|JA429730_uc021shx.1_5'Flank|DQ596686_uc021shy.1_5'Flank					Homo sapiens piRNA piR-41091, complete sequence.																		ACCCCTTCTGGGAGCCAGTGG	0.567000														58			5		0	0	0.001168	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647590	79647590	+	RNA	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:79647590C>T	uc010jaj.1	-	0		c.196G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CCCGGTTGACCGAATGTAAGT	0.547000														471			19		0	0	0.004656	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	G	G	rs145580328	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000														630			9		0	0	0.010729	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	A	A	rs151060280	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:46279860G>A	uc002xtk.3	+	19	4047	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_uc002xtl.3_Silent_p.Q1258Q|NCOA3_uc002xtn.3_Silent_p.Q1261Q|NCOA3_uc010ght.2_Silent_p.Q1253Q|NCOA3_uc002xtm.3_Silent_p.Q1257Q|NCOA3_uc010zyc.2_Silent_p.Q1057Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000														206			5		0	0	0.014758	0	0
GRIK5	2901	broad.mit.edu	37	19	42563599	42563599	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:42563599G>A	uc002osj.1	-	4	624	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	GRIK5_uc010eib.1_Missense_Mutation_p.R116W	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	197						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R197Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGGGGTCCCGGCTGTCGTCC	0.602000														451			34		0	0	0.006230	0	0
ITGB4	3691	broad.mit.edu	37	17	73728266	73728266	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73728266G>T	uc002jpg.3	+	11	1587	c.1400G>T	c.(1399-1401)cGc>cTc	p.R467L	ITGB4_uc002jph.3_Missense_Mutation_p.R467L|ITGB4_uc010dgo.3_Missense_Mutation_p.R467L|ITGB4_uc002jpi.4_Missense_Mutation_p.R467L|ITGB4_uc010dgp.1_Missense_Mutation_p.R467L|ITGB4_uc002jpj.3_Missense_Mutation_p.R467L|ITGB4_uc010wsh.1_Missense_Mutation_p.R22L	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	467	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTCAGCTCGCTGCAGCTTC	0.637000														410			11		1.5842e-08	1.68461e-08	0.016723	1	0
GGT3P	2679	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr22:18778601C>T	uc011ago.1	-	1		c.219G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCTTGGCATCCGCGGCCACGG	0.627000														52			5		0	0	0.001168	0	0
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:130789715C>T	uc003ysr.3	-	1	1001	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	40						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398000														596			32		0	0	0.012213	0	0
MYOG	4656	broad.mit.edu	37	1	203054999	203054999	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:203054999C>T	uc001gzd.3	-	0	379	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	31					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.E31K(2)|p.F30F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGTGGTTCGAAGCCCTGG	0.637000														283			8		0	0	0.004482	0	0
ZNF93	81931	broad.mit.edu	37	19	20044700	20044700	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:20044700C>T	uc002non.3	+	3	1112	c.936C>T	c.(934-936)ccC>ccT	p.P312P		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	312						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAGAGAAGCCCTACGTTTGTG	0.368000														265			6		0	0	0.001168	0	0
KIAA0947	23379	broad.mit.edu	37	5	5469027	5469027	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:5469027A>G	uc003jdm.4	+	14	6370	c.6148A>G	c.(6148-6150)Atg>Gtg	p.M2050V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	2050										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAATAAAGCAATGCAGTTAGT	0.363000														387			19		0	0	0.008871	0	0
NDST3	9348	broad.mit.edu	37	4	119161830	119161830	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:119161830T>C	uc003ibx.3	+	10	2673	c.2270T>C	c.(2269-2271)gTt>gCt	p.V757A		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	757	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGATGGCTTGTTTATTTCCCC	0.458000														267			20		0	0	0.012319	0	0
KRT40	125115	broad.mit.edu	37	17	39137358	39137358	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39137358C>A	uc010cxh.1	-	5	894	c.733G>T	c.(733-735)Gag>Tag	p.E245*	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	245	Linker 12.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGTCCAGCTCCACACTGAGG	0.522000														576			69		3.94839e-29	4.38388e-29	0.014410	1	0
ZNF737	100129842	broad.mit.edu	37	19	20728254	20728254	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:20728254C>G	uc002npa.3	-	3	935	c.755G>C	c.(754-756)aGt>aCt	p.S252T		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	252					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTCTCTCCACTATGAATTAT	0.403000														195			4		0	0	0.014758	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838614	43838614	+	Silent	SNP	C	T	T	rs147873921		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:43838614C>T	uc002zbe.3	+	6	1026	c.942C>T	c.(940-942)agC>agT	p.S314S	UBASH3A_uc002zbf.3_Silent_p.S276S|UBASH3A_uc010gpe.3_Silent_p.S276S|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	314	SH3.					cytosol|nucleus		p.S314R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGAAGCCAGCGAGGGCTGGG	0.592000														307			17		0	0	0.004990	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:47754527A>G	uc002zji.4	+	2	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_uc002zjj.3_Missense_Mutation_p.S44G|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	162					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000														457			8		0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457259	110457259	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110457259C>A	uc003yne.3	+	37	5265	c.5161C>A	c.(5161-5163)Ctt>Att	p.L1721I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1721	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCCAACAGCTTGTGGATGT	0.438000										HNSCC(38;0.096)				723			109		5.87034e-48	6.56609e-48	0.014410	1	0
IGSF22	283284	broad.mit.edu	37	11	18736168	18736168	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:18736168C>T	uc009yht.2	-	11	1725	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	512								p.R512H(3)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGTGGCCAGACGCTCTGGGGA	0.612000														218			8		0	0	0.003080	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000														286			9		0	0	0.016723	0	0
DDB1	1642	broad.mit.edu	37	11	61091514	61091514	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091514C>T	uc001nrc.4	-	6	1084	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.E286E|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Silent_p.E286E|DDB1_uc009ynl.1_Silent_p.E173E	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	286	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTTCCTCCTTCTCCAAAAGCA	0.517000								Nucleotide excision repair (NER)						797			24		0	0	0.021523	0	0
EP400	57634	broad.mit.edu	37	12	132446055	132446055	+	Silent	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:132446055A>G	uc001ujn.3	+	1	1043	c.891A>G	c.(889-891)acA>acG	p.T297T	EP400_uc021rgq.1_Silent_p.T297T|EP400_uc001ujm.3_Silent_p.T297T|EP400_uc001ujj.2_Silent_p.T297T|EP400_uc001ujk.3_Silent_p.T297T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	297					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.T297T(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGAGAGGACACCCGGCGTGC	0.736000														20			3		0	0	0.009096	0	0
TMEM131	23505	broad.mit.edu	37	2	98430514	98430514	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430514G>T	uc002syh.4	-	14	1766	c.1537C>A	c.(1537-1539)Cac>Aac	p.H513N		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	513						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTATCAATGTGCATGGATGAT	0.348000														60			6		0.00116845	0.00119213	0.001168	1	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	T	T	rs71905623		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:66765161A>T	uc004dwu.2	+	0	1288	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_uc011mpd.2_Missense_Mutation_p.Q58L|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.Q58L|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(4)|p.L57Q(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome					95			4		0	0	0.009096	0	0
THSD7B	80731	broad.mit.edu	37	2	138030171	138030171	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:138030171T>A	uc002tva.1	+	9	2242	c.2242T>A	c.(2242-2244)Tgc>Agc	p.C748S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.C638S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGCCAGGAATGCCCAGATAC	0.393000														111			5		0	0	0.001168	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216249	20216249	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:20216249C>T	uc010tkt.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATGCTATCATCCTGATCA	0.507000														464			18		0	0	0.006122	0	0
MYO9B	4650	broad.mit.edu	37	19	17322900	17322900	+	Silent	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:17322900G>A	uc010eak.3	+	39	6407	c.6255G>A	c.(6253-6255)ccG>ccA	p.P2085P	MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2085	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGGCACCGGGTGCCCGGG	0.716000														45			3		0	0	0.004672	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413940	22413940	+	Missense_Mutation	SNP	T	C	C	rs7167256	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:22413940T>C	uc001yuf.3	+	0	479	c.239T>C	c.(238-240)gTg>gCg	p.V80A	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ATTATCCAGGTGGTCCTCATC	0.507000														487			8		0	0	0.004482	0	0
CCDC108	255101	broad.mit.edu	37	2	219890812	219890812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:219890812C>T	uc002vjl.1	-	13	2365	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	761						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCTCGTGCCCGCACCGTC	0.597000														261			10		0	0	0.010729	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|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)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									168			7		0	0	0.003080	0	0
LAMB3	3914	broad.mit.edu	37	1	209799234	209799234	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:209799234C>T	uc001hhg.3	-	12	2125	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	LAMB3_uc009xco.3_Missense_Mutation_p.V579M|LAMB3_uc001hhh.3_Missense_Mutation_p.V579M|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	579	Domain II.|Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGCAGGCCACGCACACCGGG	0.667000														129			7		0	0	0.001984	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39406130G>A	uc002hwi.3	+	0	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	Homo sapiens keratin associated protein 9-4 (KRTAP9-4), mRNA.	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.R53H(8)|p.R53C(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642000														402			7		0	0	0.004990	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														96			7		0	0	0.004482	0	0
DYRK2	8445	broad.mit.edu	37	12	68051338	68051338	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:68051338C>T	uc001str.4	+	2	1053	c.651C>T	c.(649-651)caC>caT	p.H217H	DYRK2_uc001sts.4_Silent_p.H144H|DYRK2_uc021raa.1_Silent_p.H144H	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	217					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D216V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCCACGATCACGTGGCTTACA	0.552000														231			16		0	0	0.004007	0	0
FAM182B	728882	broad.mit.edu	37	20	25848617	25848617	+	RNA	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:25848617A>G	uc002wvd.1	-	0		c.170T>C								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggcaggcctgaggctgggatg	0.672000														35			3		0	0	0.001984	0	0
TRPV6	55503	broad.mit.edu	37	7	142569526	142569526	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:142569526C>A	uc003wbx.2	-	14	2341	c.2112G>T	c.(2110-2112)agG>agT	p.R704S	TRPV6_uc003wbw.1_Missense_Mutation_p.R490S|TRPV6_uc010lou.1_Missense_Mutation_p.R575S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	704	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGGTCTCTCCTCAGGGTCC	0.577000														407			31		1.80694e-10	1.9351e-10	0.009535	1	0
FAM122C	159091	broad.mit.edu	37	X	133948871	133948871	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:133948871C>T	uc004exz.2	+	1	587	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM122C_uc010nru.2_Missense_Mutation_p.R97C|FAM122C_uc004exx.3_Missense_Mutation_p.R61C|FAM122C_uc004exw.3_Missense_Mutation_p.R61C|FAM122C_uc011mvq.2_Non-coding_Transcript|FAM122C_uc022ceo.1_Missense_Mutation_p.R61C|FAM122C_uc004exy.2_Missense_Mutation_p.R61C	NM_001170779	NP_001164250	Q6P4D5	F222C_HUMAN	Homo sapiens family with sequence similarity 122C (FAM122C), transcript variant 1, mRNA.	61								p.R61C(3)|p.R61H(1)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TAGGAATCGACGCTCTCTGGT	0.388000														632			12		0	0	0.004007	0	0
FAM9A	171482	broad.mit.edu	37	X	8763195	8763195	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:8763195C>T	uc022bsk.1	-	6	891	c.755G>A	c.(754-756)gGa>gAa	p.G252E	FAM9A_uc004csg.3_Missense_Mutation_p.G252E	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	252	Glu-rich.|Poly-Gly.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcctcctcctccttcttctcc	0.463000														58			4		0	0	0.009096	0	0
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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						48			7		0	0	0.014323	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114714	74114714	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:74114714A>C	uc001jsz.2	-	0	194	c.44T>G	c.(43-45)gTg>gGg	p.V15G	DNAJB12_uc001jta.2_Missense_Mutation_p.V15G|DNAJB12_uc010qjv.1_Missense_Mutation_p.V15G	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	p.I14I(1)		endometrium(1)|large_intestine(2)|skin(1)	4						GGGCTGCGCCACCCGCCGGCG	0.662000														70			10		0	0	0.014410	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	G	G	rs141618560		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:70152481A>G	uc003hej.3	+	2	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_uc010ihr.3_Silent_p.E294E	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E294E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393000														425			6		0	0	0.016723	0	0
DNMT1	1786	broad.mit.edu	37	19	10283847	10283847	+	Silent	SNP	A	C	C	rs61758429		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:10283847A>C	uc002mng.3	-	7	819	c.639T>G	c.(637-639)gtT>gtG	p.V213V	DNMT1_uc010xlc.2_Silent_p.V229V|DNMT1_uc002mnh.3_Silent_p.V108V|DNMT1_uc010xld.2_Silent_p.V213V	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	213	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCGGTCTAGCAACTCTGTCAA	0.448000														243			5		0	0	0.014758	0	0
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138341226C>T	uc011kqh.2	-	5	501	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_uc003vue.3_Silent_p.T15T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	167						integral to membrane	transmembrane transporter activity	p.A167V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353000														591			71		0	0	0.014410	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414262	22414262	+	Silent	SNP	C	T	T	rs1429510	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:22414262C>T	uc001yuf.3	+	0	801	c.561C>T	c.(559-561)gcC>gcT	p.A187A	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTTTCCCAGCCGACAAGGTGG	0.453000														424			8		0	0	0.003080	0	0
TRPC3	7222	broad.mit.edu	37	4	122853995	122853995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:122853995C>T	uc003ieg.2	-	1	492	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	TRPC3_uc010inr.2_Missense_Mutation_p.V67I|TRPC3_uc003ief.2_Missense_Mutation_p.V67I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	55					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACGCAGTTGACGTTCAGCGTC	0.637000														277			7		0	0	0.004482	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														132			22		0	0	0.005443	0	0
SLC14A2	8170	broad.mit.edu	37	18	43205790	43205790	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:43205790T>C	uc002lbe.3	+	2	1109	c.293T>C	c.(292-294)cTc>cCc	p.L98P	SLC14A2_uc002lbb.3_Missense_Mutation_p.L98P|SLC14A2_uc010dnj.3_Missense_Mutation_p.L98P	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	98						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.Y97Y(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGCTACCTCACGGGCGAC	0.562000														111			3		0	0	0.014758	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:14262129A>C	uc010xnn.2	-	23	4277	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_uc010xno.2_Silent_p.G1322G|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000														45			7		0	0	0.003163	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666024	50666024	+	Silent	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:50666024C>T	uc002prp.1	-	1	366	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	Homo sapiens IZUMO family member 2 (IZUMO2), mRNA.	93						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TTAAGTGCTGCGTTTGGTTCT	0.562000														258			22		0	0	0.008361	0	0
PVRL4	81607	broad.mit.edu	37	1	161049599	161049599	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:161049599C>T	uc001fxo.2	-	1	519	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	74	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGGCGCCTTCGCCCGCGTCC	0.672000														444			7		0	0	0.004482	0	0
OR2T10	127069	broad.mit.edu	37	1	248756293	248756293	+	Nonsense_Mutation	SNP	G	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248756293G>C	uc010pzn.2	-	0	777	c.777C>G	c.(775-777)taC>taG	p.Y259*		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGAGCATGTAGTTGTAAA	0.438000														262			24		0	0	0.014323	0	0
KIAA1109	84162	broad.mit.edu	37	4	123168391	123168391	+	Silent	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:123168391G>A	uc003ieh.3	+	32	5436	c.5391G>A	c.(5389-5391)aaG>aaA	p.K1797K	KIAA1109_uc003iek.2_Silent_p.K416K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1797					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.K1797N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCCACAAAGATGCAGCCTC	0.393000														360			12		0	0	0.013537	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537000														66			4		0	0	0.001984	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114531	6114531	+	Missense_Mutation	SNP	G	A	A	rs148302835	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:6114531G>A	uc010idb.1	-	1	533	c.47C>T	c.(46-48)aCg>aTg	p.T16M	JAKMIP1_uc010idc.1_Missense_Mutation_p.T16M|JAKMIP1_uc010idd.1_Missense_Mutation_p.T16M|JAKMIP1_uc003giu.4_Missense_Mutation_p.T16M|JAKMIP1_uc011bwc.2_Missense_Mutation_p.T16M|JAKMIP1_uc003giv.4_Missense_Mutation_p.T16M|JAKMIP1_uc010ide.3_Missense_Mutation_p.T16M	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	16	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCGCGTCCGTCTCCATCTC	0.607000														325			31		0	0	0.009535	0	0
MYO16	23026	broad.mit.edu	37	13	109704657	109704657	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:109704657A>G	uc010agk.2	+	24	3504	c.2882A>G	c.(2881-2883)aAt>aGt	p.N961S	MYO16_uc001vqt.1_Missense_Mutation_p.N939S|MYO16_uc001vqu.1_Missense_Mutation_p.N739S|MYO16_uc010tjh.1_Missense_Mutation_p.N451S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	939	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTAGTGAAAATGTCGTGATC	0.373000														395			53		0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944116	47944116	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:47944116G>A	uc003tny.2	-	11	1824	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	597	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGGGGACGTGAGCCGATT	0.542000														317			12		0	0	0.013537	0	0
C7	730	broad.mit.edu	37	5	40947725	40947725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:40947725G>A	uc003jmh.3	+	7	874	c.760G>A	c.(760-762)Gag>Aag	p.E254K	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	254	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTTGTTGAGAACACTGT	0.408000														143			6		0	0	0.001168	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000														75			5		0	0	0.004482	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														228			6		0	0	0.003080	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284450	43284450	+	RNA	SNP	A	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:43284450A>G	uc001mxe.1	-	1		c.486T>C								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		GCACTCTACAACTCCATAGTC	0.393000														99			4		0	0	0.014758	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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)	---	664	---	---	20	---					
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	-	-	rs9657965	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:7998254delT	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					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)		CAAACGTACCTTTTTTTGTCA	0.413													---	781	---	---	8	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	460	---	---	13	---					
MFN2	9927	broad.mit.edu	37	1	12052736	12052736	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:12052736delT	uc001atn.4	+	3	753	c.300delT	c.(298-300)gctfs	p.A100fs	MFN2_uc009vni.3_Frame_Shift_Del_p.A100fs	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	100					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAAGTGGCTTTTTTTGGCC	0.537													---	1120	---	---	7	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:16255142_16255143delGA	uc001axk.1	+	10	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	803	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													---	461	---	---	11	---					
SPEN	23013	broad.mit.edu	37	1	16262459	16262460	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:16262459_16262460insC	uc001axk.1	+	10	9928_9929	c.9724_9725insC	c.(9724-9726)gccfs	p.A3242fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.A3201fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3242	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCAAAGCTgcccccaccccc	0.683													---	187	---	---	7	---					
MST1P2	11209	broad.mit.edu	37	1	16975913	16975918	+	RNA	DEL	CCTGTT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:16975913_16975918delCCTGTT	uc010och.2	+	10		c.1935_1940delCCTGTT			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTTGGGCACCCTGTTCCAGAACCCA	0.578													---	203	---	---	11	---					
SRRM1	10250	broad.mit.edu	37	1	24989158	24989160	+	In_Frame_Del	DEL	CTC	-	-	rs41268775	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:24989158_24989160delCTC	uc001bjm.3	+	11	1715_1717	c.1491_1493delCTC	c.(1489-1494)ggctcc>ggc	p.S502del	SRRM1_uc010oel.2_In_Frame_Del_p.S500del|SRRM1_uc009vrh.1_In_Frame_Del_p.S461del|SRRM1_uc009vri.1_In_Frame_Del_p.S417del|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	502	Arg-rich.|Necessary for speckles and matrix localization.|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			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)		TAGACTCTGGCTCCTCCTCCTCC	0.453													---	420	---	---	7	---					
SNIP1	79753	broad.mit.edu	37	1	38003368	38003370	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:38003368_38003370delTCC	uc001cbi.3	-	3	1243_1245	c.1170_1172delGGA	c.(1168-1173)gaggaa>gaa	p.390_391EE>E	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	390	Poly-Glu.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGACACTTCTTCCTCCTCCTCCT	0.448													---	785	---	---	8	---					
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:38166149_38166151delGAA	uc001cbr.3	+	5	486_488	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_uc001cbs.3_In_Frame_Del_p.E131del|CDCA8_uc010oih.1_In_Frame_Del_p.E64del	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	131	Poly-Glu.|Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384													---	611	---	---	9	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:54298190_54298192delTTA	uc001cvs.3	-	2	542_544	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	TMEM48_uc010onu.2_In_Frame_Del_p.I84del|TMEM48_uc001cvt.3_5'UTR|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	84					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTGAAAATACTTATTATTATTAT	0.305													---	332	---	---	8	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:67390426delT	uc001dcx.3	-	0	145	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_uc001dcy.3_Frame_Shift_Del_p.K30fs|MIER1_uc001dda.4_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													---	700	---	---	12	---					
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:74957824_74957826delCTT	uc001dge.2	+	24	2595_2597	c.2528_2530delCTT	c.(2527-2532)ccttct>cct	p.S847del	FPGT-TNNI3K_uc001dgf.2_In_Frame_Del_p.S746del	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	746						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCTCTCACCTTCTTCTTCTTC	0.473													---	1124	---	---	9	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	477	---	---	7	---					
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:100378028delA	uc001dsi.1	+	28	4304	c.3904delA	c.(3904-3906)aaafs	p.K1302fs	AGL_uc001dsj.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsk.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsl.1_Frame_Shift_Del_p.K1302fs|AGL_uc001dsm.1_Frame_Shift_Del_p.K1286fs|AGL_uc001dsn.1_Frame_Shift_Del_p.K1285fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1302					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAATTATCCAAAAAAAATAT	0.323													---	436	---	---	7	---					
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:115828721_115828722delCA	uc021osd.1	-	0	695_696	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	NGF_uc001efu.1_Frame_Shift_Del_p.V232fs	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	232					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579													---	507	---	---	8	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	434	---	---	11	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:145457040_145457042delTCT	uc001enp.1	-	6	626_628	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													---	121	---	---	9	---					
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	-	-	rs149280379		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:150530506delG	uc009wlw.3	+	13	2490	c.2332delG	c.(2332-2334)gggfs	p.G778fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													---	725	---	---	15	---					
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152944390_152944392delGCA	uc001fav.1	+	1	87_89	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del	SPRR4_uc021ozm.1_In_Frame_Del_p.Q12del	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	12	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552													---	656	---	---	7	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:154842331_154842333delTGC	uc021pah.1	-	0	422_424	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_uc001ffp.3_In_Frame_Del_p.36_37QQ>Q|KCNN3_uc009wox.1_In_Frame_Del_p.36_37QQ>Q	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	36	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													---	80	---	---	11	---					
RIT1	6016	broad.mit.edu	37	1	155870356	155870356	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:155870356delA	uc001fmh.1	-	5	670	c.483delT	c.(481-483)tttfs	p.F161fs	RIT1_uc010pgr.1_Frame_Shift_Del_p.F125fs	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	161					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CAGATGTCTCAAAAAAGGGAC	0.433													---	874	---	---	7	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:161044057_161044059delCAC	uc001fxo.2	-	5	1404_1406	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_uc010pjy.1_In_Frame_Del_p.V48del|PVRL4_uc010pjz.1_In_Frame_Del_p.V103del	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													---	458	---	---	10	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	299	---	---	13	---					
SYT2	127833	broad.mit.edu	37	1	202568423	202568425	+	In_Frame_Del	DEL	TCT	-	-	rs151217119		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:202568423_202568425delTCT	uc001gye.3	-	7	1167_1169	c.974_976delAGA	c.(973-978)aagaca>aca	p.K325del	SYT2_uc010pqb.2_In_Frame_Del_p.K325del|SYT2_uc009xaf.3_In_Frame_Del_p.K155del	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	325	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCACGGTTGTCTTCTTCTTCTT	0.547													---	792	---	---	8	---					
CENPF	1063	broad.mit.edu	37	1	214818826	214818826	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:214818826delA	uc001hkm.3	+	12	6087	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2067					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408													---	371	---	---	9	---					
LBR	3930	broad.mit.edu	37	1	225592220	225592220	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:225592220delT	uc001hoy.3	-	12	1747	c.1573delA	c.(1573-1575)accfs	p.T525fs	LBR_uc001hoz.3_Frame_Shift_Del_p.T525fs	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	525					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GTATGAATGGTTTTTAAATCT	0.318													---	138	---	---	8	---					
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:226026384delC	uc001hpk.3	+	3	474	c.394delC	c.(394-396)cccfs	p.P132fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.P132fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	132					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627													---	1234	---	---	7	---					
CHRM3	1131	broad.mit.edu	37	1	240072444	240072444	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:240072444delA	uc021plc.1	+	0	1693	c.1693delA	c.(1693-1695)aaafs	p.K565fs	CHRM3_uc001hyp.3_Frame_Shift_Del_p.K565fs	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	565					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCAGTGTGACAAAAAAAAGAG	0.502													---	340	---	---	7	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													---	409	---	---	8	---					
UBXN2A	165324	broad.mit.edu	37	2	24207666	24207666	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:24207666delA	uc010exy.3	+	6	1017	c.549delA	c.(547-549)ggafs	p.G183fs	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Frame_Shift_Del_p.G183fs|UBXN2A_uc010ykj.2_Intron	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	183	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TGGCCAATGGAAAAAGGATTG	0.299													---	456	---	---	7	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													---	866	---	---	7	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:33813402delT	uc002rpa.1	-	4	596	c.522_splice	c.e4+1	p.K174_splice	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Splice_Site_p.K51_splice	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	174										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													---	660	---	---	8	---					
FAM82A1	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:38178783delT	uc002rqn.2	+	1	551	c.425delT	c.(424-426)attfs	p.I142fs	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAGAGTGCCATTTTTTTTGAT	0.333													---	397	---	---	11	---					
DHX57	90957	broad.mit.edu	37	2	39074185	39074185	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:39074185delA	uc002rrf.3	-	10	2294	c.2195delT	c.(2194-2196)ttgfs	p.L732fs	DHX57_uc002rrd.4_Frame_Shift_Del_p.L116fs|DHX57_uc002rre.3_Frame_Shift_Del_p.L165fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	732							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)				TGCATCTTCCAAAAAAAATTG	0.363													---	258	---	---	7	---					
RGPD1	400966	broad.mit.edu	37	2	87211874	87211875	+	Splice_Site	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	407	---	---	18	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:109087883_109087884insA	uc002tec.3	+	5	2252_2253	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Ins_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													---	1153	---	---	12	---					
SLC35F5	80255	broad.mit.edu	37	2	114475423	114475427	+	Splice_Site	DEL	GAACT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:114475423_114475427delGAACT	uc002tku.1	-	15	1911	c.1497_splice	c.e15-1	p.R499_splice	SLC35F5_uc002tkt.3_Splice_Site	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	499					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CTGTCTTCTGGAACTCTTAAGAAAA	0.415													---	245	---	---	9	---					
NCKAP5	344148	broad.mit.edu	37	2	133541084	133541084	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:133541084delG	uc002ttp.3	-	13	3674	c.3300delC	c.(3298-3300)cccfs	p.P1100fs	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1100	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGAAGGCTTGGGGGGTGTGG	0.502													---	1719	---	---	7	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:178988920delA	uc002ulv.3	+	7	1227	c.1135delA	c.(1135-1137)aaafs	p.K379fs		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	381					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													---	471	---	---	27	---					
CREB1	1385	broad.mit.edu	37	2	208440094	208440107	+	Frame_Shift_Del	DEL	CAGCCGGGTACTAC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:208440094_208440107delCAGCCGGGTACTAC	uc002vcc.3	+	6	897_910	c.646_659delCAGCCGGGTACTAC	c.(646-660)cagccgggtactaccfs	p.Q216fs	CREB1_uc010ziz.1_Frame_Shift_Del_p.Q200fs|CREB1_uc002vcd.3_Frame_Shift_Del_p.Q202fs|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	216					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGCAGCCACTCAGCCGGGTACTACCATTCTACAG	0.500			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								---	639	---	---	11	---					
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													---	369	---	---	7	---					
GIGYF2	26058	broad.mit.edu	37	2	233676006	233676008	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:233676006_233676008delCAG	uc002vtj.4	+	18	2281_2283	c.2014_2016delCAG	c.(2014-2016)cagdel	p.Q676del	GIGYF2_uc010zmj.1_In_Frame_Del_p.Q655del|GIGYF2_uc002vtg.2_In_Frame_Del_p.Q649del|GIGYF2_uc002vti.4_In_Frame_Del_p.Q655del|GIGYF2_uc002vtk.4_In_Frame_Del_p.Q655del|GIGYF2_uc002vth.4_In_Frame_Del_p.Q649del|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_In_Frame_Del_p.Q486del|GIGYF2_uc002vtq.4_5'UTR	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	655	Gln-rich.				cell death		protein binding	p.I676F(1)		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)		ACTGTCTTCCCAGCAGCAGCAGC	0.424													---	461	---	---	7	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	570	---	---	27	---					
SRGAP3	9901	broad.mit.edu	37	3	9027284	9027286	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:9027284_9027286delGCT	uc003brf.1	-	21	3893_3895	c.3217_3219delAGC	c.(3217-3219)agcdel	p.S1074del	SRGAP3_uc003brg.1_In_Frame_Del_p.S1050del	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1074					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCACGCCCGAGCTGCTGCTGCTG	0.739			T	RAF1	pilocytic astrocytoma								---	193	---	---	7	---					
TATDN2	9797	broad.mit.edu	37	3	10291121	10291123	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	1240	---	---	7	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	867	---	---	9	---					
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:33866811delT	uc003cfx.3	+	4	750	c.595delT	c.(595-597)tttfs	p.F199fs	PDCD6IP_uc011axv.2_Frame_Shift_Del_p.F199fs|PDCD6IP_uc003cfy.3_Frame_Shift_Del_p.F199fs	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	199	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368													---	487	---	---	7	---					
NKTR	4820	broad.mit.edu	37	3	42680269	42680271	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:42680269_42680271delGAG	uc003clo.3	+	12	3220_3222	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	NKTR_uc003clm.1_In_Frame_Del_p.E776del|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_In_Frame_Del_p.E776del|NKTR_uc003clq.1_In_Frame_Del_p.E919del|NKTR_uc003clr.1_In_Frame_Del_p.E776del|NKTR_uc003cls.3_In_Frame_Del_p.E729del	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1029					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)		ATTTGGTGAAGAGGAGGAGGAGG	0.355													---	443	---	---	7	---					
HHATL	57467	broad.mit.edu	37	3	42739670	42739672	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:42739670_42739672delGAA	uc003clw.3	-	6	802_804	c.655_657delTTC	c.(655-657)ttcdel	p.F219del	HHATL_uc003clx.3_In_Frame_Del_p.F219del	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	219					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGATGGGCCCGAAGAAGAAGAAG	0.552													---	547	---	---	8	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	1483	---	---	7	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													---	543	---	---	13	---					
LRTM1	57408	broad.mit.edu	37	3	54952380	54952385	+	Splice_Site	DEL	TTTGTC	-	-	rs143751942		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:54952380_54952385delTTTGTC	uc003dhl.3	-	3	1277	c.1143_splice	c.e3+1		CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		tttttttttttttgtcttttGGCAAA	0.311													---	219	---	---	7	---					
LRTM1	57408	broad.mit.edu	37	3	54952381	54952385	+	Splice_Site	DEL	TTGTC	-	-	rs143751942		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:54952381_54952385delTTGTC	uc003dhl.3	-	3	1277	c.1143_splice	c.e3+1		CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ttttttttttttgtcttttGGCAAA	0.312													---	231	---	---	7	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:66436625_66436627delGCT	uc003dmx.3	-	12	1581_1583	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_In_Frame_Del_p.S144del|LRIG1_uc003dmw.3_In_Frame_Del_p.S190del|LRIG1_uc010hnz.3_In_Frame_Del_p.S240del|LRIG1_uc010hoa.3_In_Frame_Del_p.S548del	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	524	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													---	1447	---	---	8	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													---	205	---	---	15	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	1368	---	---	11	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	G	G	rs138786404		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:123368043_123368044insG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													---	468	---	---	8	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	431	---	---	17	---					
MRAS	22808	broad.mit.edu	37	3	138121035	138121037	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	379	---	---	8	---					
NUDT9	53343	broad.mit.edu	37	4	88344097	88344098	+	Frame_Shift_Del	DEL	TC	-	-	rs151296797		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	494	---	---	7	---					
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	-	-	rs146939312		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:105412094_105412096delGAG	uc003hxg.3	-	0	372_374	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	119	Poly-Ser.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.S120A(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606													---	437	---	---	10	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:106863682_106863684delCCA	uc011cfd.2	+	8	1285_1287	c.1072_1074delCCA	c.(1072-1074)ccadel	p.P363del	NPNT_uc011cfc.2_In_Frame_Del_p.P350del|NPNT_uc011cfe.2_In_Frame_Del_p.P363del|NPNT_uc003hya.3_In_Frame_Del_p.P333del|NPNT_uc011cff.2_In_Frame_Del_p.P333del	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	333	Pro-rich.				cell differentiation	membrane	calcium ion binding	p.S362T(2)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													---	480	---	---	9	---					
SEC24B	10427	broad.mit.edu	37	4	110402913	110402915	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:110402913_110402915delGAG	uc003hzk.3	+	3	1196_1198	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E384del	SEC24B_uc003hzl.3_Intron|SEC24B_uc011cfp.2_In_Frame_Del_p.E415del|SEC24B_uc011cfq.2_In_Frame_Del_p.E384del|SEC24B_uc011cfr.2_Intron	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	384	Poly-Glu.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.E381delE(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGATgaggaagaggaggaggagg	0.443													---	834	---	---	8	---					
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:110756541delT	uc003hzv.3	+	2	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393													---	454	---	---	8	---					
PHF17	79960	broad.mit.edu	37	4	129783052	129783052	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:129783052delC	uc011cgy.2	+	8	1489	c.1175delC	c.(1174-1176)tccfs	p.S392fs	PHF17_uc003igj.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igk.3_Frame_Shift_Del_p.S392fs|PHF17_uc003igl.3_Frame_Shift_Del_p.S380fs|PHF17_uc003igm.3_Frame_Shift_Del_p.S392fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGAGTGTTCCCCCCGGAAT	0.597													---	688	---	---	7	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:134073569_134073571delCTG	uc003iha.3	+	0	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del	PCDH10_uc003igz.3_In_Frame_Del_p.C763del	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	763	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													---	285	---	---	8	---					
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:146823381_146823383delGTG	uc003ikn.3	-	1	1076_1078	c.1028_1030delCAC	c.(1027-1032)ccacaa>caa	p.P343del	ZNF827_uc003ikm.3_In_Frame_Del_p.P343del|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512													---	241	---	---	7	---					
DDX60	55601	broad.mit.edu	37	4	169182016	169182016	+	Splice_Site	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:169182016delA	uc003irp.3	-	25	3690	c.3398_splice	c.e25+1	p.L1133_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1133							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AATAACTTACAAAAAAAATAG	0.383													---	384	---	---	7	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	494	---	---	11	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													---	378	---	---	7	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:124079813_124079815delCTC	uc003ktq.1	-	0	1051_1053	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													---	1115	---	---	15	---					
CPLX2	10814	broad.mit.edu	37	5	175306965	175306967	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	173	---	---	9	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:26384091_26384093delCCT	uc003nht.3	+	1	175_177	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_uc003nhs.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkf.2_In_Frame_Del_p.L24del|BTN2A2_uc003nhq.3_In_Frame_Del_p.L24del|BTN2A2_uc003nhr.3_In_Frame_Del_p.L24del|BTN2A2_uc011dkh.2_In_Frame_Del_p.L24del|BTN2A2_uc011dkg.2_In_Frame_Del_p.L24del	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	24					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													---	561	---	---	8	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:29573436_29573438delCAG	uc003nmt.4	-	19	2683_2685	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_uc003nmp.4_In_Frame_Del_p.L666del|GABBR1_uc003nms.4_In_Frame_Del_p.L666del|GABBR1_uc003nmu.4_In_Frame_Del_p.L721del|GABBR1_uc011dlr.2_In_Frame_Del_p.L606del	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													---	531	---	---	8	---					
GABBR1	2550	broad.mit.edu	37	6	29599254	29599254	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:29599254delC	uc003nmt.4	-	2	544	c.208delG	c.(208-210)gagfs	p.E70fs	GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ACCTCGCGCTCCCCCCGGCAC	0.632													---	881	---	---	8	---					
CCHCR1	54535	broad.mit.edu	37	6	31110764	31110766	+	In_Frame_Del	DEL	CTG	-	-	rs140560656		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:31110764_31110766delCTG	uc003nsp.4	-	16	2654_2656	c.2465_2467delCAG	c.(2464-2469)gcagtg>gtg	p.A822del	CCHCR1_uc011dne.2_In_Frame_Del_p.A719del|CCHCR1_uc003nsq.4_In_Frame_Del_p.A786del|CCHCR1_uc003nsr.4_In_Frame_Del_p.A733del	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	733					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532													---	2137	---	---	7	---					
HLA-DRB5	3127	broad.mit.edu	37	6	32546736	32546737	+	Frame_Shift_Ins	INS	-	AG	AG	rs35165835	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:32546736_32546737insAG	uc011dqb.1	-	1	417_418	c.277_278insCT	c.(277-279)tgcfs	p.C93fs	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc003obp.4_3'UTR			Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 2, mRNA.	0	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ACATTTTCTGCAGTTGCCGAAC	0.530													---	9	---	---	5	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	202	---	---	15	---					
PRICKLE4	29964	broad.mit.edu	37	6	41754738	41754740	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:41754738_41754740delCTC	uc011duf.1	+	7	1274_1276	c.1026_1028delCTC	c.(1024-1029)tgctcc>tgc	p.S346del	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_Non-coding_Transcript|TOMM6_uc011dug.1_5'UTR	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	306						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCCACCTGCTCCTCCTCCTCT	0.601											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1014	---	---	7	---					
RRP36	88745	broad.mit.edu	37	6	42989434	42989451	+	In_Frame_Del	DEL	CGGGGCCCGACGTCCCCG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG	uc003otp.1	+	0	50_67	c.42_59delCGGGGCCCGACGTCCCCG	c.(40-60)gccggggcccgacgtccccgc>gcc	p.GARRPR15del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	15					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						gggccggggccggggcccgacgtccccgcggggcccgg	0.784													---	22	---	---	9	---					
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:84896233delA	uc010kbp.3	-	11	1315	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Del_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358													---	734	---	---	19	---					
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:87725847delC	uc003pli.3	+	1	1498	c.795delC	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCATCAGGATCCCCCCCTTCG	0.512													---	1200	---	---	8	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:131191073_131191075delCTG	uc003qch.2	-	14	2417_2419	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_In_Frame_Del_p.675_676SS>S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													---	505	---	---	15	---					
HECA	51696	broad.mit.edu	37	6	139488147	139488147	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:139488147delG	uc003qin.3	+	1	1283	c.998delG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCAGTTCACAGGGGGGGACAC	0.587													---	550	---	---	9	---					
PHACTR2	9749	broad.mit.edu	37	6	144081696	144081696	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:144081696delA	uc010khi.3	+	4	812	c.613delA	c.(613-615)aaafs	p.K205fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.K194fs|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	194							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCCTCCCATTAAAAAAAATAC	0.567													---	340	---	---	7	---					
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086414	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:144086414delA	uc010khi.3	+	5	910	c.711delA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCTCTCATTCAAAAAAAACAA	0.398													---	590	---	---	8	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:146755399_146755401delCAG	uc010khw.1	+	8	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													---	803	---	---	10	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:146755630_146755632delGAC	uc010khw.1	+	8	3753_3755	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													---	653	---	---	9	---					
SYNE1	23345	broad.mit.edu	37	6	152673182	152673183	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:152673182_152673183insT	uc021zhb.1	-	67	11782_11783	c.11559_11560insA	c.(11557-11562)aaagctfs	p.K3853fs	SYNE1_uc003qot.4_Frame_Shift_Ins_p.K3838fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.K3853fs|SYNE1_uc010kja.2_Frame_Shift_Ins_p.K558fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3853					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATAACTGAGCTTTTTTCTCAT	0.401										HNSCC(10;0.0054)			---	320	---	---	12	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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								---	422	---	---	7	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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	---	345	---	---	15	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:39379288_39379290delCAG	uc003thb.2	+	5	702_704	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_uc022acb.1_In_Frame_Del_p.Q196del|POU6F2_uc010kxo.3_In_Frame_Del_p.Q188del	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													---	143	---	---	11	---					
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:41729741_41729743delTTC	uc003thq.3	-	1	1021_1023	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	INHBA_uc003thr.3_In_Frame_Del_p.262_263KK>K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	262					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)			---	232	---	---	11	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	TTA	TTA	rs71982071		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:65419353_65419354insTTA	uc011kds.2	+	1	589_590	c.487_488insTTA	c.(487-489)ttt>tTTAtt	p.171_172insI	VKORC1L1_uc003tul.3_3'UTR|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													---	52	---	---	7	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	1517	---	---	8	---					
C7orf63	79846	broad.mit.edu	37	7	89929188	89929188	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:89929188delA	uc010lep.3	+	16	2116	c.1865delA	c.(1864-1866)caafs	p.Q622fs	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Frame_Shift_Del_p.Q297fs|C7orf63_uc011khj.2_Frame_Shift_Del_p.Q604fs|C7orf63_uc011khk.2_Frame_Shift_Del_p.Q184fs	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	622							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTTGAACCAAAAAAAATTC	0.303													---	154	---	---	8	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:91752494delT	uc003ulm.4	-	6	1188	c.1026delA	c.(1024-1026)aaafs	p.K342fs	CYP51A1_uc011khn.2_Frame_Shift_Del_p.K237fs|CYP51A1_uc003uln.4_Frame_Shift_Del_p.K279fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													---	861	---	---	9	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	-	-	rs71555278		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:100028823_100028825delCCA	uc003uuw.3	+	0	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_5'UTR|MEPCE_uc022aio.1_5'UTR|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	399							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													---	392	---	---	7	---					
VGF	7425	broad.mit.edu	37	7	100806641	100806642	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:100806641_100806642insG	uc003uxx.4	-	1	1701_1702	c.1483_1484insC	c.(1483-1485)cgtfs	p.R495fs	VGF_uc022aiz.1_Frame_Shift_Ins_p.R495fs	NM_003378	NP_003369	O15240	VGF_HUMAN	Homo sapiens VGF nerve growth factor inducible (VGF), mRNA.	495					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					gggggcggCACGGGGGGGCGGC	0.748													---	111	---	---	8	---					
PUS7	54517	broad.mit.edu	37	7	105122810	105122810	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:105122810delT	uc010lji.3	-	7	1024	c.1016delA	c.(1015-1017)aacfs	p.N339fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.N333fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	333					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTTCAGTGGGTTTTTTTGATA	0.408													---	1144	---	---	7	---					
FOXP2	93986	broad.mit.edu	37	7	114269971	114269973	+	In_Frame_Del	DEL	CAA	-	-	rs149757187		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:114269971_114269973delCAA	uc003vhb.3	+	4	882_884	c.508_510delCAA	c.(508-510)caadel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	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.Q195Q(1)		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						acagcagcagcaacaacaacaac	0.502													---	197	---	---	7	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	GGCGAC	GGCGAC	rs11277659	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:131241029_131241030insGGCGAC	uc003vqw.4	-	0	347_348	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_uc003vqx.4_In_Frame_Ins_p.30_30P>PSP	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	30					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													---	25	---	---	8	---					
ZC3HAV1	56829	broad.mit.edu	37	7	138774379	138774379	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138774379delA	uc003vun.3	-	1	823	c.435delT	c.(433-435)tttfs	p.F145fs	ZC3HAV1_uc003vup.3_Frame_Shift_Del_p.F145fs	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	145					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCTCGGGCATAAAAAAAGGAT	0.403													---	506	---	---	7	---					
LUC7L2	51631	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:139094365_139094366delAG	uc011kqt.2	+	7	1176_1177	c.942_943delAG	c.(940-945)gaagagfs	p.E314fs	LUC7L2_uc011kqs.2_Frame_Shift_Del_p.E245fs|LUC7L2_uc003vuy.3_Frame_Shift_Del_p.E247fs|LUC7L2_uc003vux.3_Frame_Shift_Del_p.E248fs|LUC7L2_uc003vuz.1_Frame_Shift_Del_p.E195fs|LUC7L2_uc003vva.3_Frame_Shift_Del_p.E195fs	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	248	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AACGAAGAGAAGAGAGAGAGAG	0.391													---	131	---	---	7	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:155531073_155531074delCA	uc010lqk.1	+	10	2081_2082	c.1713_1714delCA	c.(1711-1716)cccacafs	p.P571fs	RBM33_uc011kvv.1_Frame_Shift_Del_p.P380fs	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	571	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													---	383	---	---	9	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:6289099delA	uc003wqi.3	+	3	389	c.313delA	c.(313-315)aaafs	p.K105fs	MCPH1_uc003wqh.3_Frame_Shift_Del_p.K105fs|MCPH1_uc011kwl.2_Frame_Shift_Del_p.K105fs	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	105						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													---	433	---	---	11	---					
RP1L1	94137	broad.mit.edu	37	8	10480104	10480104	+	Splice_Site	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:10480104delT	uc003wtc.3	-	2	838	c.609_splice	c.e2+1	p.K203_splice		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	203					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGCCTACCTTTTTCCCGCT	0.483													---	1066	---	---	9	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	-	-	rs137989738		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:12957611_12957613delGCT	uc003wwm.2	-	8	2677_2679	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_uc003wwk.1_In_Frame_Del_p.S308del|DLC1_uc003wwl.1_In_Frame_Del_p.S342del|DLC1_uc011kxx.1_In_Frame_Del_p.S234del	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.S744T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													---	337	---	---	7	---					
KIAA1967	57805	broad.mit.edu	37	8	22476369	22476369	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:22476369delA	uc003xch.3	+	18	2611	c.2362delA	c.(2362-2364)aaafs	p.K788fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.K788fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.K457fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	788					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)		CCCTCCTGGGAAAAGCACGAA	0.607													---	1077	---	---	7	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:70514026delT	uc003xyg.2	+	8	1584	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_uc010lza.1_Frame_Shift_Del_p.P341fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													---	1293	---	---	7	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	G	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110455173_110455174insG	uc003yne.3	+	36	4498	c.4394_splice	c.e36-1	p.G1465_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1465	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			---	478	---	---	15	---					
KCNQ3	3786	broad.mit.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:133150233delT	uc003ytj.3	-	11	1824	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_uc003yti.3_Frame_Shift_Del_p.K413fs|KCNQ3_uc010mdt.3_Frame_Shift_Del_p.K533fs	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	533					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTCCTTGAATTTTTTTTTAT	0.453													---	688	---	---	13	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	-	-	rs142964918		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	462	---	---	16	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	-	-	rs2272753	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	74	---	---	7	---					
GRINA	2907	broad.mit.edu	37	8	145066170	145066172	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:145066170_145066172delTCT	uc003zan.1	+	3	783_785	c.617_619delTCT	c.(616-621)gtcttc>gtc	p.F208del	GRINA_uc003zao.1_In_Frame_Del_p.F208del|GRINA_uc003zap.1_In_Frame_Del_p.F208del	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	208						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTATGCTGTCTTCTTCATCTC	0.547													---	834	---	---	22	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	749	---	---	9	---					
KIAA1432	57589	broad.mit.edu	37	9	5743708	5743708	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:5743708delA	uc003zjl.4	+	9	1257	c.1066delA	c.(1066-1068)aaafs	p.K356fs	KIAA1432_uc003zjh.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zji.3_Frame_Shift_Del_p.K277fs|KIAA1432_uc003zjj.1_5'UTR	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	356						integral to membrane		p.G356E(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGATGGCACCAAAAAAGATCC	0.279													---	1000	---	---	7	---					
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:41962602delG	uc004aca.4	-	2		c.907delC								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373													---	339	---	---	16	---					
LOC642236	642236	broad.mit.edu	37	9	68429132	68429133	+	RNA	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:68429132_68429133insT	uc022bht.1	-	7		c.899_900insA								Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		GAATTTTACTGCTTCTTTACTT	0.317													---	2725	---	---	33	---					
LOC642236	642236	broad.mit.edu	37	9	68438558	68438559	+	Splice_Site	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:68438558_68438559insT	uc022bht.1	-	4		c.541_splice	c.e4+1							Homo sapiens FSHD region gene 1 pseudogene (LOC642236), non-coding RNA.																		AGACACAAACCTTCTTTGTGTG	0.421													---	534	---	---	7	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	-	-	rs137929518	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	559	---	---	16	---					
FNBP1	23048	broad.mit.edu	37	9	132687243	132687243	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:132687243delT	uc004byw.1	-	8	1202	c.983delA	c.(982-984)aatfs	p.N328fs	FNBP1_uc011mbv.1_Frame_Shift_Del_p.N328fs|FNBP1_uc011mbw.1_Frame_Shift_Del_p.N328fs|FNBP1_uc004bza.2_Frame_Shift_Del_p.N328fs|FNBP1_uc004byz.1_Frame_Shift_Del_p.N328fs|FNBP1_uc004byx.1_Frame_Shift_Del_p.N249fs|FNBP1_uc004byy.1_Frame_Shift_Del_p.N249fs	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	328	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CAGTACCTTATTTTTTTTGAT	0.378			T	MLL	AML								---	70	---	---	7	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	-	-	rs12246234		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:55587198_55587200delGGC	uc010qhy.1	-	32	4730_4732	c.4335_4337delGCC	c.(4333-4338)ccgcct>cct	p.1445_1446PP>P	PCDH15_uc010qhq.2_In_Frame_Del_p.1445_1446PP>P|PCDH15_uc010qhr.2_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqv.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqw.1_In_Frame_Del_p.1452_1453PP>P|PCDH15_uc010qht.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_uc021pqx.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc021pqz.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_uc010qhv.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_uc010qhw.1_In_Frame_Del_p.1400_1401PP>P|PCDH15_uc010qhx.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_uc010qhz.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qia.1_In_Frame_Del_p.1418_1419PP>P|PCDH15_uc001jju.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_uc010qib.1_In_Frame_Del_p.1415_1416PP>P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1440					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.A1445A(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)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			---	423	---	---	17	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	535	---	---	8	---					
KIAA1279	26128	broad.mit.edu	37	10	70768643	70768643	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:70768643delT	uc001joy.3	+	4	948	c.836delT	c.(835-837)attfs	p.I279fs		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	279					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCTAATGTCATTTTTGGTCAA	0.338													---	1204	---	---	7	---					
HECTD2	143279	broad.mit.edu	37	10	93247481	93247481	+	Frame_Shift_Del	DEL	A	-	-	rs57105282		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:93247481delA	uc010qnm.1	+	11	1249	c.1149delA	c.(1147-1149)gcafs	p.A383fs	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Frame_Shift_Del_p.A379fs|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Intron|HECTD2_uc001khn.1_Frame_Shift_Del_p.A29fs	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTGTAGCTGCAAAAAAAATCA	0.318													---	691	---	---	8	---					
HELLS	3070	broad.mit.edu	37	10	96331163	96331163	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:96331163delA	uc009xuo.3	+	6	559	c.454delA	c.(454-456)aaafs	p.K152fs	HELLS_uc001kjs.3_Frame_Shift_Del_p.K136fs|HELLS_uc001kjt.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xul.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xum.3_Frame_Shift_Del_p.K152fs|HELLS_uc009xun.3_Frame_Shift_Del_p.K28fs|HELLS_uc001kju.3_5'UTR|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Frame_Shift_Del_p.K14fs|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	152					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTGTGGCTAAAAAAAATAA	0.254													---	309	---	---	7	---					
SEC31B	25956	broad.mit.edu	37	10	102265160	102265160	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:102265160delT	uc001krc.1	-	9	1239	c.1137delA	c.(1135-1137)aaafs	p.K379fs	SEC31B_uc010qpo.1_Frame_Shift_Del_p.K378fs|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	379					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)		ATTTGGGGGGTTTTTTCAGGG	0.512													---	1385	---	---	8	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	1051	---	---	19	---					
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:103901076_103901077insC	uc001kum.3	+	4	2850_2851	c.2811_2812insC	c.(2809-2814)ctgcccfs	p.L937fs	PPRC1_uc001kun.3_Frame_Shift_Ins_p.L817fs|PPRC1_uc010qqj.2_Frame_Shift_Ins_p.L937fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	937	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604													---	407	---	---	8	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:105727547_105727549delAGA	uc001kxo.1	+	0	78_80	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_uc001kxp.1_In_Frame_Del_p.K19del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	19	Poly-Lys.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448													---	576	---	---	10	---					
PNLIPRP3	119548	broad.mit.edu	37	10	118215233	118215234	+	Splice_Site	INS	-	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr10:118215233_118215234insA	uc001lcl.4	+	5	558	c.457_splice	c.e5-1	p.K153_splice		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	153					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATTCTTTCAGAAAAAATTTGA	0.386													---	249	---	---	10	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	650	---	---	15	---					
SMPD1	6609	broad.mit.edu	37	11	6412868	6412870	+	In_Frame_Del	DEL	TAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:6412868_6412870delTAG	uc001mcw.3	+	1	758_760	c.573_575delTAG	c.(571-576)cctagc>ccc	p.S192del	SMPD1_uc021qcz.1_In_Frame_Del_p.S192del|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_In_Frame_Del_p.S191del|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	190					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.S192fs*1(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCAAACCCCCTAGCCCCCCAGCC	0.626													---	86	---	---	10	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	187	---	---	8	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:6867223_6867225delTTC	uc001met.1	+	0	310_312	c.310_312delTTC	c.(310-312)ttcdel	p.F108del		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													---	631	---	---	13	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	662	---	---	9	---					
LOC440041	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:55065032delT	uc021qjb.1	-	1		c.394delA			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		AAAGACTGCATTTTTTTTTAG	0.398													---	270	---	---	8	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61607885_61607887delTCC	uc001nsl.1	+	2	548_550	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_uc001nsj.2_In_Frame_Del_p.L115del|FADS2_uc010rlo.1_In_Frame_Del_p.L106del|FADS2_uc001nsk.3_In_Frame_Del_p.L137del	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	137				LLLL -> RTRG (in Ref. 8; CAB43280).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													---	1060	---	---	10	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:75694430_75694431insA	uc001oxc.3	+	8	941	c.700_splice	c.e8-1	p.K234_splice	UVRAG_uc010rrw.2_Splice_Site_p.K133_splice|UVRAG_uc001oxd.3_Splice_Site|UVRAG_uc010rrx.2_Splice_Site|UVRAG_uc009yuh.1_Splice_Site	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	234					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													---	227	---	---	13	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:108788635_108788637delTGA	uc001pkm.3	+	16	2405_2407	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_uc001pkl.1_In_Frame_Del_p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	788							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								---	364	---	---	11	---					
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:115080312_115080314delTGG	uc001ppi.4	-	7	1187_1189	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_In_Frame_Del_p.T105del	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	353				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429													---	415	---	---	13	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	403	---	---	11	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:6711207_6711209delCTT	uc001qpo.3	-	3	519_521	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_uc001qpn.3_In_Frame_Del_p.K112del|CHD4_uc001qpp.3_In_Frame_Del_p.K116del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	119	Poly-Lys.				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	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													---	198	---	---	8	---					
PDE3A	5139	broad.mit.edu	37	12	20799489	20799489	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:20799489delC	uc001reh.2	+	10	2357	c.2317delC	c.(2317-2319)ccafs	p.P773fs	PDE3A_uc021qwa.1_Frame_Shift_Del_p.P451fs	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	773	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAGCCTATTCCAGGCCTCTC	0.413													---	598	---	---	30	---					
KRT83	3889	broad.mit.edu	37	12	52715037	52715038	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52715037_52715038insT	uc001saf.2	-	0	145_146	c.82_83insA	c.(82-84)agcfs	p.S28fs		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	28	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGCAGCGGCTTGGCCGGGGC	0.678													---	464	---	---	9	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	206	---	---	11	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:57422572_57422573insT	uc001smw.4	-	27	3338_3339	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_uc010sqz.2_Frame_Shift_Ins_p.K871fs|MYO1A_uc009zpd.3_Frame_Shift_Ins_p.K1033fs	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													---	620	---	---	8	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:57605740_57605742delTGC	uc001snd.3	+	86	13755_13757	c.13289_13291delTGC	c.(13288-13293)ttgctg>ttg	p.4430_4431LL>L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4430					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTGCTGTTGCTGCTGCTGCT	0.557													---	734	---	---	19	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:57883053delT	uc001sog.3	+	2	358	c.204delT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													---	343	---	---	16	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:72094757delT	uc001sws.3	+	5	1576	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													---	1125	---	---	7	---					
SLC6A15	55117	broad.mit.edu	37	12	85279790	85279790	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:85279790delA	uc001szv.3	-	2	840	c.347delT	c.(346-348)ttcfs	p.F116fs	SLC6A15_uc010sul.2_Frame_Shift_Del_p.F9fs|SLC6A15_uc001szy.3_Frame_Shift_Del_p.F116fs	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	116					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.E118fs*22(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGTTCCAAGAAAAAAAGGGG	0.358													---	542	---	---	7	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	861	---	---	9	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:121134166_121134168delGAA	uc001tyy.1	+	4	848_850	c.697_699delGAA	c.(697-699)gaadel	p.E238del		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	238	Poly-Glu.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													---	761	---	---	9	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													---	913	---	---	14	---					
ANKRD20A9P	284232	broad.mit.edu	37	13	19420047	19420053	+	RNA	DEL	TTCGTAT	-	-	rs117180361	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:19420047_19420053delTTCGTAT	uc010tcj.1	-	0		c.26057_26063delATACGAA								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATAACATTTCTTCGTATTTTATATTTT	0.246													---	82	---	---	10	---					
WASF3	10810	broad.mit.edu	37	13	27255386	27255387	+	Frame_Shift_Ins	INS	-	C	C	rs141429361		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:27255386_27255387insC	uc001uqv.3	+	7	1137_1138	c.912_913insC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				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)		CTCAGCAGCCGCCCCCCCCGCC	0.678													---	391	---	---	10	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	389	---	---	7	---					
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:34398063delA	uc001uuz.3	+	2	345	c.235delA	c.(235-237)aaafs	p.K79fs	RFC3_uc001uva.3_Frame_Shift_Del_p.K79fs|RFC3_uc010ted.1_Frame_Shift_Del_p.K79fs	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	79					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269													---	180	---	---	18	---					
INTS6	26512	broad.mit.edu	37	13	51948408	51948408	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:51948408delT	uc001vfk.3	-	14	2654	c.2040delA	c.(2038-2040)aaafs	p.K680fs	INTS6_uc001vfi.3_Frame_Shift_Del_p.K364fs|INTS6_uc001vfj.3_Frame_Shift_Del_p.K667fs|INTS6_uc001vfl.3_Frame_Shift_Del_p.K502fs	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	680					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAGGTGGTCCTTTTCCCCCAA	0.398													---	1460	---	---	8	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:95696016delT	uc001vmd.4	-	28	3774	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_uc010afj.3_Intron|ABCC4_uc010afk.3_Frame_Shift_Del_p.I1172fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													---	608	---	---	18	---					
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524611	103524612	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:103524611_103524612insA	uc001vpu.2	+	20	4226_4227	c.4104_4105insA	c.(4102-4107)gtgaaafs	p.V1368fs	BIVM-ERCC5_uc001vpw.3_Frame_Shift_Ins_p.V914fs|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Frame_Shift_Ins_p.V746fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1339					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										ACACCAAAGTGAAAAAAAAATT	0.431													---	301	---	---	8	---					
COL4A1	1282	broad.mit.edu	37	13	110857850	110857850	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:110857850delT	uc001vqw.4	-	15	1016	c.894delA	c.(892-894)aaafs	p.K298fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	298	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463													---	1298	---	---	7	---					
CHD8	57680	broad.mit.edu	37	14	21883981	21883983	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:21883981_21883983delTCT	uc001war.2	-	4	1865_1867	c.1800_1802delAGA	c.(1798-1803)gaagag>gag	p.600_601EE>E	CHD8_uc001was.2_In_Frame_Del_p.321_322EE>E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	600					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.E599K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TACATCCACCTCTTCTTCTTCTT	0.433													---	682	---	---	8	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	580	---	---	38	---					
PCK2	5106	broad.mit.edu	37	14	24572757	24572757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:24572757delT	uc001wlt.3	+	9	1639	c.1507delT	c.(1507-1509)tttfs	p.F503fs	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Frame_Shift_Del_p.F369fs|PCK2_uc010tnx.2_Frame_Shift_Del_p.F369fs|PCK2_uc001wlu.4_Frame_Shift_Del_p.F337fs	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	503					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CATGCGGCCCTTTTTTGGCTA	0.577													---	645	---	---	7	---					
C14orf39	317761	broad.mit.edu	37	14	60903565	60903565	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:60903565delA	uc001xez.4	-	17	1872	c.1762delT	c.(1762-1764)tgafs	p.*588fs	C14orf39_uc010apo.3_Frame_Shift_Del_p.*299fs	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	0								p.*588fs?(4)|p.F587F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGACTAGCTCAAAAAAAAGTA	0.289													---	625	---	---	9	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:72190482_72190484delTCC	uc001xms.3	+	15	4751_4753	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_uc001xmt.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.3_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.3_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.2_In_Frame_Del_p.S922del	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													---	724	---	---	14	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:73572607_73572608delAG	uc010ttu.2	+	11	1471_1472	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_uc001xno.3_Frame_Shift_Del_p.R399fs|RBM25_uc001xnp.3_Frame_Shift_Del_p.R194fs	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													---	124	---	---	11	---					
C14orf43	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:74205926_74205928delCTG	uc010tud.1	-	0	1031_1033	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	C14orf43_uc001xot.3_In_Frame_Del_p.Q262del|C14orf43_uc001xou.3_In_Frame_Del_p.Q262del|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GTAGGgctgcctgctgctgctgc	0.650													---	166	---	---	7	---					
MLH3	27030	broad.mit.edu	37	14	75514338	75514338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:75514338delT	uc001xrd.1	-	1	2237	c.2021delA	c.(2020-2022)aatfs	p.N674fs	MLH3_uc001xre.1_Frame_Shift_Del_p.N674fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	674					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CGTTCTGCAATTTTTTTTGTT	0.348								Mismatch excision repair (MMR)					---	506	---	---	7	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:77493762_77493767delTGCTGC	uc001xsy.3	-	0	1268_1273	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	123	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714													---	3	---	---	4	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	204	---	---	11	---					
ATXN3	4287	broad.mit.edu	37	14	92537355	92537357	+	In_Frame_Del	DEL	CTG	-	-	rs147904130	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:92537355_92537357delCTG	uc021rzo.1	-	9	982_984	c.913_915delCAG	c.(913-915)cagdel	p.Q305del	ATXN3_uc021ryv.1_Non-coding_Transcript|ATXN3_uc010twl.2_In_Frame_Del_p.Q126del|ATXN3_uc021ryw.1_Non-coding_Transcript|ATXN3_uc021ryx.1_In_Frame_Del_p.Q235del|ATXN3_uc021ryy.1_In_Frame_Del_p.Q184del|ATXN3_uc021ryz.1_In_Frame_Del_p.Q85del|ATXN3_uc021rza.1_In_Frame_Del_p.A143del|ATXN3_uc021rzb.1_Non-coding_Transcript|ATXN3_uc021rzc.1_Non-coding_Transcript|ATXN3_uc021rzd.1_In_Frame_Del_p.A92del|ATXN3_uc021rze.1_In_Frame_Del_p.Q126del|ATXN3_uc021rzf.1_In_Frame_Del_p.A37del|ATXN3_uc021rzg.1_Non-coding_Transcript|ATXN3_uc021rzh.1_Non-coding_Transcript|ATXN3_uc021rzi.1_In_Frame_Del_p.A77del|ATXN3_uc021rzj.1_In_Frame_Del_p.A22del|ATXN3_uc021rzk.1_Non-coding_Transcript|ATXN3_uc021rzl.1_Non-coding_Transcript|ATXN3_uc001yac.4_In_Frame_Del_p.Q305del|ATXN3_uc021rzm.1_Non-coding_Transcript|ATXN3_uc001yae.4_In_Frame_Del_p.Q207del|ATXN3_uc021rzn.1_Non-coding_Transcript|ATXN3_uc021ryo.1_Non-coding_Transcript|ATXN3_uc021ryp.1_Non-coding_Transcript|ATXN3_uc021ryq.1_Non-coding_Transcript|ATXN3_uc001yad.4_In_Frame_Del_p.Q250del|ATXN3_uc021ryr.1_Non-coding_Transcript|ATXN3_uc021rys.1_In_Frame_Del_p.Q207del|ATXN3_uc021ryt.1_Non-coding_Transcript|ATXN3_uc021ryu.1_In_Frame_Del_p.Q254del|ATXN3_uc010aug.3_In_Frame_Del_p.Q290del|ATXN3_uc021rzp.1_In_Frame_Del_p.Q207del|ATXN3_uc021rzz.1_Non-coding_Transcript|ATXN3_uc021saa.1_Non-coding_Transcript|ATXN3_uc021sab.1_3'UTR|ATXN3_uc021sac.1_Non-coding_Transcript|ATXN3_uc021sad.1_Non-coding_Transcript|ATXN3_uc021sae.1_In_Frame_Del_p.Q304del|ATXN3_uc021saf.1_In_Frame_Del_p.Q207del|ATXN3_uc021sag.1_In_Frame_Del_p.Q199del|ATXN3_uc021sah.1_3'UTR|ATXN3_uc021sai.1_In_Frame_Del_p.S188del|ATXN3_uc021saj.1_Non-coding_Transcript|ATXN3_uc021sak.1_3'UTR|ATXN3_uc021sal.1_In_Frame_Del_p.Q207del|ATXN3_uc021sam.1_Non-coding_Transcript|ATXN3_uc021san.1_In_Frame_Del_p.Q253del|ATXN3_uc021sao.1_In_Frame_Del_p.Q239del|ATXN3_uc021sap.1_Non-coding_Transcript|ATXN3_uc021saq.1_Non-coding_Transcript|ATXN3_uc021sar.1_In_Frame_Del_p.Q147del|ATXN3_uc021sas.1_Non-coding_Transcript|ATXN3_uc021sat.1_Non-coding_Transcript|ATXN3_uc021sau.1_In_Frame_Del_p.A91del|ATXN3_uc021rzq.1_Non-coding_Transcript|ATXN3_uc021rzr.1_Non-coding_Transcript|ATXN3_uc021rzs.1_Non-coding_Transcript|ATXN3_uc021rzt.1_Non-coding_Transcript|ATXN3_uc021rzu.1_Non-coding_Transcript|ATXN3_uc021rzv.1_In_Frame_Del_p.Q260del|ATXN3_uc021rzw.1_Non-coding_Transcript|ATXN3_uc021rzx.1_Non-coding_Transcript|ATXN3_uc021rzy.1_Non-coding_Transcript	NM_004993	NP_004984	P54252	ATX3_HUMAN	Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.	305	Poly-Gln.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATAGGTCCCCctgctgctgctgc	0.448													---	349	---	---	7	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	638	---	---	13	---					
HERC2	8924	broad.mit.edu	37	15	28508137	28508137	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:28508137delT	uc001zbj.3	-	14	2155	c.2049delA	c.(2047-2049)aaafs	p.K683fs	HERC2_uc001zbl.1_Frame_Shift_Del_p.K378fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	683					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTTGTCACCTTTTCCCCATG	0.413													---	766	---	---	8	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	-	-	rs147271815		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	852	---	---	11	---					
RSL1D1	26156	broad.mit.edu	37	16	11931747	11931747	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:11931747delT	uc002dbp.1	-	8	1443	c.1370delA	c.(1369-1371)aagfs	p.K457fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.K456fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.K237fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	457					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GGCCTCtggcttttttggagt	0.468													---	1698	---	---	7	---					
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:14346299_14346300insC	uc010uza.2	+	14	2798_2799	c.2643_2644insC	c.(2641-2646)gatcccfs	p.D881fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.D831fs|MKL2_uc002dcj.3_Frame_Shift_Ins_p.D126fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	870					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564													---	354	---	---	20	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:20370700_20370702delCCA	uc002dhc.1	-	11	1917_1919	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													---	1191	---	---	8	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:28931200_28931202delCTG	uc002drq.3	-	2	385_387	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_In_Frame_Del_p.Q42del|RABEP2_uc010byn.3_In_Frame_Del_p.Q113del|RABEP2_uc002drr.3_In_Frame_Del_p.Q113del	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	113	Poly-Gln.				endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													---	340	---	---	10	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:29998498_29998500delCTG	uc010bzm.2	+	14	2961_2963	c.2926_2928delCTG	c.(2926-2928)ctgdel	p.L981del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_In_Frame_Del_p.L861del|TAOK2_uc002dva.2_In_Frame_Del_p.L974del|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													---	438	---	---	10	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:67913767_67913769delCAG	uc002eur.3	+	15	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	EDC4_uc010cer.3_In_Frame_Del_p.S236del|EDC4_uc010vkg.1_In_Frame_Del_p.S549del|EDC4_uc002eus.3_In_Frame_Del_p.S347del|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	617	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)		CTGCCTCTCCcagcagcagcagc	0.611													---	413	---	---	20	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356311	77356311	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:77356311delA	uc002ffc.4	-	13	2504	c.2085delT	c.(2083-2085)tttfs	p.F695fs	ADAMTS18_uc010chc.1_Frame_Shift_Del_p.F283fs|ADAMTS18_uc002ffe.1_Frame_Shift_Del_p.F391fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)|p.F694Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGGACATTGCAAAAAAAAATT	0.403													---	573	---	---	14	---					
FANCA	2175	broad.mit.edu	37	16	89831345	89831346	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:89831345_89831346delAG	uc002fou.1	-	27	2772_2773	c.2730_2731delCT	c.(2728-2733)ctctggfs	p.L910fs	FANCA_uc010vpn.1_Frame_Shift_Del_p.L910fs|FANCA_uc010vpo.2_Frame_Shift_Del_p.L39fs	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	910					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTGTGTGTCCAGAGAGAGAGGG	0.559			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	420	---	---	9	---					
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:89951019_89951020insA	uc002fpb.2	+	2	466_467	c.384_385insA	c.(382-387)aagaaafs	p.K128fs	TCF25_uc002fpc.2_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	128					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446													---	169	---	---	12	---					
YBX2	51087	broad.mit.edu	37	17	7193599	7193599	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7193599delG	uc002gfq.2	-	4	772	c.715delC	c.(715-717)cggfs	p.R239fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	239	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TTGGGAGGCCGGGGGCCTCGC	0.622													---	1284	---	---	8	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:8415820_8415822delTTC	uc002glm.3	-	23	2995_2997	c.2899_2901delGAA	c.(2899-2901)gaadel	p.E967del	MYH10_uc002gll.3_In_Frame_Del_p.E936del|MYH10_uc010cnx.3_In_Frame_Del_p.E945del	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													---	265	---	---	7	---					
TOP3A	7156	broad.mit.edu	37	17	18196068	18196069	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:18196068_18196069insC	uc002gsx.1	-	10	1400_1401	c.1171_1172insG	c.(1171-1173)gccfs	p.A391fs	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Frame_Shift_Ins_p.A289fs	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	391					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGCAAAGGCCCCCCAGCGT	0.550													---	406	---	---	11	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:27027202_27027204delAGC	uc010crt.3	+	34	4765_4767	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_uc002hby.3_In_Frame_Del_p.S1528del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													---	1367	---	---	32	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:34071994_34071996delTCC	uc002hjv.2	-	5	2548_2550	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													---	301	---	---	12	---					
KRTAP4-11	653240	broad.mit.edu	37	17	39274566	39274567	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39274566_39274567insT	uc002hvz.3	-	0	40_41	c.1_2insA	c.(1-3)atgfs	p.M1fs		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	1						keratin filament				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)			GGAGTTTACCATGGTGTCAGAG	0.564													---	163	---	---	7	---					
KLHL11	55175	broad.mit.edu	37	17	40011270	40011271	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:40011270_40011271delTC	uc002hyf.1	-	1	854_855	c.848_849delGA	c.(847-849)agafs	p.R283fs		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	283	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTCAAAGTATCTCTCTCTCTC	0.401													---	374	---	---	9	---					
DDX42	11325	broad.mit.edu	37	17	61877936	61877936	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:61877936delA	uc002jbu.3	+	6	837	c.580delA	c.(580-582)aaafs	p.K194fs	DDX42_uc002jbv.3_Frame_Shift_Del_p.K194fs|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	194					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGCACCTACCAAAAAAATCAT	0.403													---	803	---	---	7	---					
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:62291438_62291440delTCC	uc002jed.3	-	1	289_291	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_uc002jec.3_In_Frame_Del_p.46_47EE>E|TEX2_uc002jee.3_In_Frame_Del_p.46_47EE>E	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	46	Poly-Glu.				signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552													---	453	---	---	8	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:65822267_65822269delGAG	uc002jgf.3	+	0	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_uc002jge.3_In_Frame_Del_p.E148del|BPTF_uc010wqm.1_In_Frame_Del_p.E148del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	148	Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635													---	103	---	---	9	---					
KIAA0195	9772	broad.mit.edu	37	17	73482037	73482039	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73482037_73482039delTGC	uc010wsa.2	+	2	452_454	c.260_262delTGC	c.(259-264)gtgctg>gtg	p.L91del	KIAA0195_uc002jnz.4_In_Frame_Del_p.L81del	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	81					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675													---	176	---	---	8	---					
ZACN	353174	broad.mit.edu	37	17	74077980	74077982	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:74077980_74077982delCTG	uc002jqn.2	+	7	981_983	c.898_900delCTG	c.(898-900)ctgdel	p.L304del	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	304	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTTCACCATCCTGCTGCTGCTGC	0.655													---	527	---	---	7	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:78201649_78201651delTGC	uc002jyb.2	+	6	932_934	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_uc002jyc.2_In_Frame_Del_p.L213del|SLC26A11_uc002jyd.2_In_Frame_Del_p.L213del|SLC26A11_uc010dhv.2_In_Frame_Del_p.L213del	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	213						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													---	671	---	---	15	---					
SOGA2	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:8793004delC	uc002knr.2	+	7	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_uc002knq.2_Intron|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	980																	AGCTCAGGGGCCCCCCCGTTT	0.552													---	1000	---	---	7	---					
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	-	-	rs143162930		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:13681751delT	uc010dlh.3	-	2	758	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_uc010dlg.3_Frame_Shift_Del_p.K109fs|FAM210A_uc010dli.3_Frame_Shift_Del_p.K109fs|FAM210A_uc002ksj.4_Frame_Shift_Del_p.K109fs|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	109						integral to membrane		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433													---	846	---	---	7	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:47812275_47812277delCTG	uc002leq.4	-	4	1214_1216	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_uc002lep.4_In_Frame_Del_p.Q18del|CXXC1_uc002ler.4_In_Frame_Del_p.Q161del|CXXC1_uc010doy.3_In_Frame_Del_p.Q161del	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	161					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557													---	223	---	---	13	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	61	---	---	8	---					
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	160	---	---	7	---					
PIAS4	51588	broad.mit.edu	37	19	4037775	4037777	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:4037775_4037777delGAG	uc002lzg.3	+	10	1445_1447	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	487	Asp/Glu-rich (acidic).				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.700													---	65	---	---	7	---					
GTF2F1	2962	broad.mit.edu	37	19	6381410	6381412	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:6381410_6381412delCTC	uc002meq.2	-	8	1261_1263	c.976_978delGAG	c.(976-978)gagdel	p.E326del	GTF2F1_uc010xjb.1_In_Frame_Del_p.E147del|GTF2F1_uc010xjc.1_In_Frame_Del_p.E241del	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	326	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GTGccttcttctcctcctcctcc	0.640													---	183	---	---	9	---					
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	739	---	---	9	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													---	125	---	---	9	---					
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:40480653_40480654insC	uc002omq.3	+	5	628_629	c.591_592insC	c.(589-594)gatcccfs	p.D197fs	PSMC4_uc002omr.3_Frame_Shift_Ins_p.D166fs	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	197					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|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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614													---	268	---	---	7	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	735	---	---	52	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	338	---	---	8	---					
U2AF2	11338	broad.mit.edu	37	19	56171899	56171901	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	262	---	---	8	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:58084579delA	uc002qpf.3	-	3	864	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													---	1349	---	---	7	---					
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:58319468delT	uc002qqg.3	-	2	1334	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Frame_Shift_Del_p.K384fs	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		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;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413													---	765	---	---	8	---					
KIF16B	55614	broad.mit.edu	37	20	16360401	16360401	+	Frame_Shift_Del	DEL	T	-	-	rs35229389		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:16360401delT	uc002wpg.2	-	18	2405	c.2246delA	c.(2245-2247)aagfs	p.K749fs	KIF16B_uc002wpe.1_Frame_Shift_Del_p.K131fs|KIF16B_uc002wpf.1_Frame_Shift_Del_p.K131fs|KIF16B_uc010gch.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gci.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gcj.2_Frame_Shift_Del_p.K760fs	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	749	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K749fs*3(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCTAGTCTCTTTTTTTCCAG	0.498													---	659	---	---	7	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	218	---	---	11	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	1643	---	---	9	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	504	---	---	8	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	543	---	---	24	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr22:41753399_41753401delCTG	uc003azw.3	+	22	3116_3118	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	987				E -> G (in Ref. 1; BAG37501 and 3; AAI52559).	interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.650													---	748	---	---	8	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	487	---	---	14	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	306	---	---	13	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:70360648_70360650delCAG	uc004dyy.3	+	41	6407_6409	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	MED12_uc004dyz.3_In_Frame_Del_p.Q2075del|MED12_uc004dza.3_In_Frame_Del_p.Q1926del|MED12_uc010nla.3_In_Frame_Del_p.Q705del	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						---	265	---	---	9	---					
SYTL4	94121	broad.mit.edu	37	X	99943418	99943420	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:99943418_99943420delTCT	uc004egd.4	-	11	1289_1291	c.933_935delAGA	c.(931-936)gaagac>gac	p.E311del	SYTL4_uc010nnb.3_5'UTR|SYTL4_uc010nnc.3_In_Frame_Del_p.E311del|SYTL4_uc004ege.4_In_Frame_Del_p.E311del|SYTL4_uc004egf.4_In_Frame_Del_p.E311del|SYTL4_uc004egg.4_In_Frame_Del_p.E311del	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	311	Poly-Glu.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGGTCAATGtcttcttcttctt	0.374													---	266	---	---	9	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:119694117_119694119delGAG	uc004esw.3	-	2	866_868	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_uc004esv.3_In_Frame_Del_p.125_126SS>S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	143	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													---	370	---	---	12	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:131762582delA	uc011mvd.1	-	5	2023	c.1607delT	c.(1606-1608)ttgfs	p.L536fs	HS6ST2_uc011mvb.1_Frame_Shift_Del_p.L390fs|HS6ST2_uc011mvc.1_Frame_Shift_Del_p.L350fs|HS6ST2_uc011mve.1_Frame_Shift_Del_p.L496fs|HS6ST2_uc011mva.1_Frame_Shift_Del_p.L222fs	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													---	1280	---	---	7	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:135314194delG	uc004ezt.3	-	7	1143	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532													---	1608	---	---	11	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	688	---	---	10	---					
MAGEC1	9947	broad.mit.edu	37	X	140994939	140994940	+	In_Frame_Ins	INS	-	CCT	CCT			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:140994939_140994940insCCT	uc004fbt.3	+	3	2073_2074	c.1749_1750insCCT	c.(1747-1752)insCCT	p.584_585insP	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_In_Frame_Ins_p.243_244insP	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	584							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCAGAGCCCTCAGGGGGA	0.584										HNSCC(15;0.026)			---	994	---	---	10	---					
HMGB3	3149	broad.mit.edu	37	X	150156358	150156360	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:150156358_150156360delGAG	uc004fep.3	+	4	666_668	c.574_576delGAG	c.(574-576)gagdel	p.E198del	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_In_Frame_Del_p.E198del	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	198	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaagaagaggaggaggagg	0.443													---	388	---	---	8	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	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													---	712	---	---	15	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152087570_152087572delGAG	uc011myg.2	+	6	523_525	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_uc011myi.2_In_Frame_Del_p.E165del|ZNF185_uc011myj.2_In_Frame_Del_p.E165del|ZNF185_uc011myh.2_In_Frame_Del_p.E165del|ZNF185_uc011myk.2_In_Frame_Del_p.E165del|ZNF185_uc010ntv.2_In_Frame_Del_p.E165del|ZNF185_uc004fgw.4_In_Frame_Del_p.E30del|ZNF185_uc004fgu.3_5'UTR|ZNF185_uc004fgv.3_5'Flank	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	165	Poly-Glu.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596													---	168	---	---	7	---					
