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
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	T	T	rs66505048		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000														664			12		0	0	0.024334	0	0
SYBU	55638	broad.mit.edu	37	8	110590222	110590222	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:110590222G>A	uc010mcp.3	-	6	1121	c.759C>T	c.(757-759)tgC>tgT	p.C253C	SYBU_uc003yni.4_Silent_p.C250C|SYBU_uc003ynk.4_Silent_p.C134C|SYBU_uc003ynj.4_Silent_p.C253C|SYBU_uc010mco.3_Silent_p.C252C|SYBU_uc003ynl.4_Silent_p.C252C|SYBU_uc010mcq.3_Silent_p.C253C|SYBU_uc003yno.4_Silent_p.C134C|SYBU_uc010mcr.3_Silent_p.C253C|SYBU_uc003ynm.4_Silent_p.C252C|SYBU_uc003ynn.4_Silent_p.C252C|SYBU_uc010mcs.3_Silent_p.C134C|SYBU_uc010mct.3_Silent_p.C253C|SYBU_uc010mcu.3_Silent_p.C252C|SYBU_uc003ynp.4_Silent_p.C185C|SYBU_uc010mcv.3_Silent_p.C253C|SYBU_uc003ynh.4_Silent_p.C47C|SYBU_uc011lhw.2_Silent_p.C123C	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	253	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GATTTTCACCGCAAGACATGT	0.433000														839			10		0	0	0.004482	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796648	43796648	+	Splice_Site	SNP	A	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:43796648A>T	uc002zbb.2	-	11	1395	c.1194_splice	c.e11+1	p.Q398_splice	TMPRSS3_uc002zay.2_Splice_Site_p.Q155_splice|TMPRSS3_uc002zaz.2_Splice_Site_p.Q271_splice|TMPRSS3_uc002zba.2_Splice_Site_p.Q271_splice|TMPRSS3_uc002zbc.2_Splice_Site_p.Q397_splice	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	398	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCGGCCCCGTACCTGGCAGCT	0.622000											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		440			9		0	0	0.004482	0	0
KRT26	353288	broad.mit.edu	37	17	38928255	38928255	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:38928255C>T	uc002hvf.3	-	0	157	c.111G>A	c.(109-111)tcG>tcA	p.S37S		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	37	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCTTGCTCCCGATCCAACAC	0.557000														882			14		0	0	0.013537	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935609	151935609	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:151935609G>A	uc022chl.1	-	0	558	c.558C>T	c.(556-558)taC>taT	p.Y186Y	MAGEA3_uc004fgp.3_Silent_p.Y186Y	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	186	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCCATCGTAGGAGAGGC	0.572000														879			20		0	0	0.010504	0	0
MAP1S	55201	broad.mit.edu	37	19	17838243	17838243	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:17838243G>A	uc002nhe.1	+	4	2059	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	MAP1S_uc010eaz.2_Missense_Mutation_p.A297T|MAP1S_uc010xpv.1_Missense_Mutation_p.A658T	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	684	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTCACTACCCGCAGAGGTGGG	0.711000														62			3		0	0	0.004672	0	0
MST1P2	11209	broad.mit.edu	37	1	16974243	16974243	+	RNA	SNP	G	C	C	rs142213352	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:16974243G>C	uc009vow.2	+	4		c.1053G>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GATCTCAGCTGTCGCTCGGGG	0.652000														205			18		0	0	0.016522	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130678772	130678772	+	Splice_Site	SNP	A	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:130678772A>C	uc004bss.3	-	2	202	c.-74_splice	c.e2-1		ST6GALNAC4_uc004bst.3_Intron	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.						glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGAGCCGGGCACCTGCCAAGA	0.617000														215			27		0	0	0.013114	0	0
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:40816901C>G	uc003ayv.1	-	6	1038	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_uc010gyf.1_Missense_Mutation_p.Q227H|MKL1_uc003ayw.1_Missense_Mutation_p.Q277H|MKL1_uc010gye.1_Missense_Mutation_p.Q277H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657000			T	RBM15	acute megakaryocytic leukemia									344			6		0	0	0.021553	0	0
DYX1C1	161582	broad.mit.edu	37	15	55731755	55731755	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:55731755G>A	uc002adc.3	-	6	1176	c.808C>T	c.(808-810)Cga>Tga	p.R270*	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Nonsense_Mutation_p.R270*|DYX1C1_uc002add.3_Nonsense_Mutation_p.R270*	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	270					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTGCTCTTCGTGCCTCAGCT	0.333000														340			6		0	0	0.021553	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:13927900T>C	uc002god.1	+	0		c.86T>C								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		GAGCCTTTTCTGACGATGCCG	0.572000														149			4		0	0	0.012319	0	0
VARS2	57176	broad.mit.edu	37	6	30892256	30892256	+	Silent	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30892256C>G	uc011dmz.2	+	25	2763	c.2682C>G	c.(2680-2682)ctC>ctG	p.L894L	VARS2_uc003nsc.2_Silent_p.L864L|VARS2_uc011dmx.2_Silent_p.L864L|VARS2_uc011dmy.2_Silent_p.L724L|VARS2_uc011dna.2_Silent_p.L862L|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Silent_p.L302L|VARS2_uc010jsg.2_Silent_p.L236L|VARS2_uc010jsh.2_Silent_p.L8L	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	864					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAAGAGCTCTGGCAGAGGC	0.706000														320			7		0	0	0.006214	0	0
NALCN	259232	broad.mit.edu	37	13	101755619	101755619	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:101755619G>A	uc001vox.1	-	25	3150	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	987						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACCGAAGGACCATTAGAA	0.443000														610			14		0	0	0.028581	0	0
LRP1	4035	broad.mit.edu	37	12	57587450	57587450	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:57587450G>A	uc001snd.3	+	46	8252	c.7786G>A	c.(7786-7788)Gac>Aac	p.D2596N	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2596	LDL-receptor class A 12.				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)	GGATGGCTCTGACGAGATCCC	0.622000														418			12		0	0	0.016723	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:55035844T>C	uc010rid.2	+	3	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000														228			9		0	0	0.016723	0	0
RYR2	6262	broad.mit.edu	37	1	237732446	237732446	+	Splice_Site	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:237732446C>A	uc001hyl.1	+	29	3544	c.3424_splice	c.e29-1	p.A1142_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1142	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1140D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTATAGGCCCAGCGGTGG	0.527000														256			15		2.98522e-18	3.74337e-18	0.024245	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20890181	20890181	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:20890181C>A	uc010sii.2	+	11	1878	c.1523C>A	c.(1522-1524)aCc>aAc	p.T508N	SLCO1C1_uc010sij.2_Missense_Mutation_p.T459N|SLCO1C1_uc009zip.3_Missense_Mutation_p.T342N|SLCO1C1_uc001rei.3_Missense_Mutation_p.T508N|SLCO1C1_uc010sik.2_Missense_Mutation_p.T390N	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	508	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTTGTCAAACCTCCAACAGG	0.403000														475			6		8.12818e-05	8.67739e-05	0.029380	1	0
HLA-DMA	3108	broad.mit.edu	37	6	32917503	32917503	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:32917503G>A	uc003ocm.2	-	2	623	c.537C>T	c.(535-537)gtC>gtT	p.V179V	HLA-DMA_uc011dqm.1_3'UTR	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	179						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						TGAGTCCATCGACAGCTGAGA	0.473000														383			6		0	0	0.029380	0	0
AKAP3	10566	broad.mit.edu	37	12	4737445	4737445	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:4737445C>A	uc001qnb.4	-	3	867	c.623G>T	c.(622-624)aGt>aTt	p.S208I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	208					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTGGGGGACTTTGTGATGA	0.488000														607			9		1.12685e-05	1.24505e-05	0.004482	1	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:8420609T>G	uc001ape.3	-	18	3768	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_uc001apf.3_Silent_p.P986P|RERE_uc010nzx.1_Silent_p.P718P|RERE_uc001apd.3_Silent_p.P432P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	986	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(8)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000														256			15		0	0	0.012213	0	0
CR1	1378	broad.mit.edu	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:207787831G>T	uc001hfy.3	+	31	5448	c.5308G>T	c.(5308-5310)Gaa>Taa	p.E1770*	CR1_uc001hfx.3_Nonsense_Mutation_p.E2220*|CR1_uc021pij.1_Nonsense_Mutation_p.E1770*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1770	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.E2220*(6)|p.E1775*(6)		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						TCCAGTGTGTGAACGTGAGTA	0.408000														372			7		6.40141e-05	6.92755e-05	0.010729	1	0
GRIP2	80852	broad.mit.edu	37	3	14536396	14536396	+	Silent	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:14536396C>A	uc021wtn.1	-	24	3213	c.3213G>T	c.(3211-3213)ggG>ggT	p.G1071G	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	975					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGTGGGCTGGCCCATCAGGGC	0.607000														294			16		5.01169e-05	5.46102e-05	0.033300	1	0
DAAM2	23500	broad.mit.edu	37	6	39847105	39847105	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:39847105C>T	uc003oow.3	+	13	1836	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	DAAM2_uc010jxc.3_Missense_Mutation_p.P566L|DAAM2_uc003oox.3_Missense_Mutation_p.P566L	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	566	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGGGACCCCCGACTCCCCCA	0.672000														131			4		0	0	0.009096	0	0
BC101079	0	broad.mit.edu	37	15	102292811	102292811	+	Silent	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:102292811C>A	uc010usj.2	+	3	458	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607000														217			6		0.00307968	0.00322245	0.038147	1	0
WASH3P	374666	broad.mit.edu	37	15	102515344	102515344	+	Missense_Mutation	SNP	A	C	C	rs141089280	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:102515344A>C	uc002cdi.3	+	8	1988	c.568A>C	c.(568-570)Aag>Cag	p.K190Q	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCTGGAGAAGAAGCAGCAGAA	0.662000														178			5		0	0	0.014758	0	0
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:55587212C>G	uc010qhy.1	-	32	4718	c.4323G>C	c.(4321-4323)ccG>ccC	p.P1441P	PCDH15_uc010qhq.2_Silent_p.P1441P|PCDH15_uc010qhr.2_Silent_p.P1436P|PCDH15_uc021pqv.1_Silent_p.P1436P|PCDH15_uc021pqw.1_Silent_p.P1448P|PCDH15_uc010qht.2_Silent_p.P1443P|PCDH15_uc021pqx.1_Silent_p.P1436P|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.P1436P|PCDH15_uc021pqz.1_Silent_p.P1411P|PCDH15_uc010qhv.1_Silent_p.P1433P|PCDH15_uc010qhw.1_Silent_p.P1396P|PCDH15_uc010qhx.1_Silent_p.P1365P|PCDH15_uc010qhz.1_Silent_p.P1436P|PCDH15_uc010qia.1_Silent_p.P1414P|PCDH15_uc001jju.1_Silent_p.P1436P|PCDH15_uc010qib.1_Silent_p.P1411P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1436	Poly-Pro.				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			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)				gcggcggcggcgggggcgCTG	0.582000										HNSCC(58;0.16)				537			10		0	0	0.020292	0	0
LOC100499484	100499484	broad.mit.edu	37	9	100053719	100053719	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:100053719C>A	uc011luu.2	+	5	540	c.470C>A	c.(469-471)cCc>cAc	p.P157H	C9orf174_uc011lur.2_Non-coding_Transcript|C9orf174_uc011lut.2_Silent_p.T12T|C9orf174_uc004axe.2_Silent_p.T12T|C9orf174_uc011lus.2_5'UTR|C9orf174_uc010msm.1_Non-coding_Transcript					Homo sapiens SUGT1-1300002K09Rik pseudogene (LOC100499484), non-coding RNA.																		CTGGTGCTACCCATCGTCCAA	0.537000														815			17		5.01169e-05	5.46102e-05	0.033300	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:39274343A>G	uc002hvz.3	-	0	264	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			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)			AGCTGGGGCGACAGCAGCTGG	0.657000														550			8		0	0	0.020292	0	0
CLEC4A	50856	broad.mit.edu	37	12	8276535	8276535	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:8276535A>G	uc001qtz.1	+	0	308	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	CLEC4A_uc009zga.1_Missense_Mutation_p.I21V|CLEC4A_uc001qub.1_Missense_Mutation_p.I21V|CLEC4A_uc001quc.1_Missense_Mutation_p.I21V|CLEC4A_uc009zgb.1_Missense_Mutation_p.I21V	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	21					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTCCTCAGGCATCAACACAGC	0.418000														446			8		0	0	0.006214	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:44083353A>T	uc003bdy.2	-	10	1454	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(2)		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)				TTACATACCTATTTCTTTTTG	0.299000														129			16		0	0	0.030593	0	0
RPAP1	26015	broad.mit.edu	37	15	41815528	41815528	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:41815528G>T	uc001zod.3	-	17	2585	c.2461C>A	c.(2461-2463)Ctc>Atc	p.L821I		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	821						nucleus	DNA binding|DNA-directed RNA polymerase activity	p.L821I(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGTCCTGGAGCCAATCCTCC	0.577000														271			15		3.32936e-07	3.86793e-07	0.038395	1	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:22155896A>C	uc021urr.1	-	3	2089	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000														667			9		0	0	0.010729	0	0
abParts	0	broad.mit.edu	37	14	106757880	106757880	+	RNA	SNP	C	T	T	rs146488407	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:106757880C>T	uc021ser.1	-	749		c.19498G>A								Parts of antibodies, mostly variable regions.																		AACCCAGAGACGGTGCAGGTC	0.552000														311			6		0	0	0.021553	0	0
MUC4	4585	broad.mit.edu	37	3	195505855	195505855	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:195505855G>T	uc021xjp.1	-	1	12752	c.12596C>A	c.(12595-12597)tCc>tAc	p.S4199Y	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	962					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S4199Y(6)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATGCTGAGGAAGTGTCGGT	0.597000														40			4		1.12685e-05	1.24505e-05	0.004482	1	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:39316759T>C	uc002hwc.3	-	0	225	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000														690			9		0	0	0.008291	0	0
NRAP	4892	broad.mit.edu	37	10	115374049	115374049	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:115374049A>G	uc001lal.3	-	28	3357	c.3193T>C	c.(3193-3195)Tac>Cac	p.Y1065H	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.Y1065H|NRAP_uc001lak.3_Missense_Mutation_p.Y1030H	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1065						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTCTTTGTATTTGTACTAA	0.453000														700			11		0	0	0.016723	0	0
UQCR11	10975	broad.mit.edu	37	19	1605381	1605381	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:1605381A>G	uc002ltm.3	-	0	103	c.28T>C	c.(28-30)Tac>Cac	p.Y10H		NM_006830	NP_006821	O14957	QCR10_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit XI (UQCR11), nuclear gene encoding mitochondrial protein, mRNA.	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						AGCTCCCGGTAGCGTGGGCCC	0.731000														69			3		0	0	0.004672	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973120	79973120	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:79973120G>A	uc002kcy.3	+	12	1620	c.1523G>A	c.(1522-1524)gGt>gAt	p.G508D	ASPSCR1_uc002kcx.3_Intron|ASPSCR1_uc021ufj.1_Intron|ASPSCR1_uc002kda.3_Intron	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	505							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAAGCACTGGTCAGCCTCCA	0.627000			T	TFE3	alveolar soft part sarcoma									513			19		0	0	0.014323	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:197657782C>T	uc002uts.3	-	2	466	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_uc010zgu.2_Silent_p.E103E|GTF3C3_uc002utu.3_Silent_p.E103E	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000														288			9		0	0	0.010729	0	0
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Silent	SNP	A	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:64005048A>C	uc001nyw.3	+	5	817	c.567A>C	c.(565-567)ggA>ggC	p.G189G	VEGFB_uc001nyx.3_Missense_Mutation_p.T156P	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	189					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACCCCCGGACCTGCCGCTG	0.711000														53			9		0	0	0.014323	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000														198			20		0	0	0.010504	0	0
abParts	0	broad.mit.edu	37	22	22759044	22759044	+	RNA	SNP	T	C	C	rs427322	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:22759044T>C	uc021wml.1	+	61		c.6834T>C								Parts of antibodies, mostly variable regions.																		GATACCAGCCTGAGAGCTTGC	0.592000														257			5		0	0	0.014758	0	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:21806573A>G	uc001ber.3	+	10	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_uc001bes.3_Missense_Mutation_p.E357G|NBPF3_uc009vqb.3_Missense_Mutation_p.E401G|NBPF3_uc010odm.2_Missense_Mutation_p.E343G	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	413	NBPF 3.					cytoplasm		p.E413G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000														280			6		0	0	0.006214	0	0
BC132841	0	broad.mit.edu	37	19	46998201	46998201	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:46998201G>C	uc002peu.1	+	0	437	c.312G>C	c.(310-312)tgG>tgC	p.W104C	LOC100506012_uc021uwg.1_Intron|PNMAL2_uc002pes.2_Silent_p.T174T					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ42076 fis, clone SYNOV2018921;																		TGCCCTTCTGGGTCAACCTGT	0.647000														629			10		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:37430773G>A	uc021ppc.1	+	6	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_uc001iza.1_Silent_p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493000														365			6		0	0	0.038147	0	0
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:240371421C>T	uc010pye.2	+	5	3546	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	FMN2_uc010pyd.2_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736000														571			8		0	0	0.016723	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028204	21028204	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:21028204G>C	uc010sil.2	+	6	828	c.763G>C	c.(763-765)Gtt>Ctt	p.V255L	SLCO1B3_uc001rek.3_Missense_Mutation_p.V255L|SLCO1B3_uc001rel.3_Missense_Mutation_p.V255L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	255					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTCTCGTTGGGTTGGAGCTTG	0.378000														776			8		0	0	0.029380	0	0
FCGBP	8857	broad.mit.edu	37	19	40398010	40398010	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:40398010G>A	uc002omp.4	-	13	6965	c.6957C>T	c.(6955-6957)gcC>gcT	p.A2319A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCCCAGCGGCCTGACAGG	0.652000														281			13		0	0	0.033300	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														363			9		0	0	0.010729	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640404	54640404	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:54640404C>T	uc009vzo.3	-	7	1156	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	CYB5RL_uc001cww.3_Missense_Mutation_p.C169Y|CYB5RL_uc001cwy.4_Missense_Mutation_p.C131Y|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	279							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCTCCGACAGCAGCTGACCAG	0.552000														227			7		0	0	0.004482	0	0
PLEC	5339	broad.mit.edu	37	8	145006714	145006714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:145006714G>A	uc003zaf.1	-	15	2412	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	PLEC_uc003zab.1_Missense_Mutation_p.R611C|PLEC_uc003zac.1_Missense_Mutation_p.R615C|PLEC_uc003zad.2_Missense_Mutation_p.R611C|PLEC_uc003zae.1_Missense_Mutation_p.R579C|PLEC_uc003zag.1_Missense_Mutation_p.R589C|PLEC_uc003zah.2_Missense_Mutation_p.R597C|PLEC_uc003zaj.2_Missense_Mutation_p.R638C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	748	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R748C(2)|p.R611C(1)|p.R638C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTGAGGCGGGCCTTGGAG	0.657000														624			11		0	0	0.016723	0	0
BC039483	0	broad.mit.edu	37	GL000219.1	45438	45438	+	RNA	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrGL000219.1:45438G>A	uc011mfo.2	+	0		c.42G>A								Homo sapiens, clone IMAGE:5538248, mRNA.																		TCCTGGCTGAGGAGTGGTTCC	0.607000														60			5		0	0	0.004482	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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														54			3		0	0	0.004672	0	0
HERC6	55008	broad.mit.edu	37	4	89349856	89349856	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:89349856G>A	uc011cdi.2	+	15	2243	c.2060G>A	c.(2059-2061)cGt>cAt	p.R687H	HERC6_uc011cdj.2_Missense_Mutation_p.R651H|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATGCTCTGCGTCAATTAAGT	0.388000														62			3		0	0	0.004672	0	0
ZNF749	388567	broad.mit.edu	37	19	57955950	57955950	+	Silent	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:57955950T>C	uc002qoq.2	+	2	1688	c.1434T>C	c.(1432-1434)atT>atC	p.I478I		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGATTGACATTAGGCCAAGGC	0.458000														369			5		0	0	0.021553	0	0
SLC7A10	56301	broad.mit.edu	37	19	33699842	33699842	+	Silent	SNP	T	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:33699842T>G	uc002num.2	-	10	1674	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P	SLC7A10_uc002nul.2_Silent_p.P356P	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	509					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547000														216			22		0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	T	T	rs55749440		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:207787753C>T	uc001hfy.3	+	31	5370	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*	CR1_uc001hfx.3_Nonsense_Mutation_p.R2194*|CR1_uc021pij.1_Nonsense_Mutation_p.R1744*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1744	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		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						CTTTAGGTTCCGATTAAAAGG	0.423000														311			5		0	0	0.014758	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790046	87790046	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:87790046C>A	uc002fki.3	-	2	331	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KLHDC4_uc002fkj.3_Nonsense_Mutation_p.E77*|KLHDC4_uc002fkl.3_Intron|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	77										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGATTAACTCATCTTTCTCA	0.438000														314			7		1.12685e-05	1.24505e-05	0.004482	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	A	A	rs145791878	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:89774252G>A	uc010rua.2	+	7	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(6)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000														253			6		0	0	0.004482	0	0
C2orf71	388939	broad.mit.edu	37	2	29295748	29295748	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:29295748C>T	uc002rmt.2	-	0	1380	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	460					response to stimulus|visual perception	photoreceptor outer segment		p.G460E(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						AGACCCCAATCCCAAAGGAAT	0.557000														530			16		0	0	0.024245	0	0
SCUBE1	80274	broad.mit.edu	37	22	43654281	43654281	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:43654281G>C	uc003bdt.2	-	5	798	c.671C>G	c.(670-672)cCc>cGc	p.P224R	SCUBE1_uc003bdu.2_Missense_Mutation_p.P224R	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	224					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACCACACGTGGGGCCTGTGTC	0.577000														584			8		0	0	0.038147	0	0
GALNTL1	57452	broad.mit.edu	37	14	69805396	69805396	+	Silent	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:69805396T>C	uc001xlb.2	+	9	1323	c.996T>C	c.(994-996)ggT>ggC	p.G332G	GALNTL1_uc001xla.2_Silent_p.G332G|GALNTL1_uc010aqu.2_Silent_p.G332G	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	332	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GGATGTGTGGTGGCAGTCTGG	0.592000														691			17		0	0	0.010504	0	0
FGB	2244	broad.mit.edu	37	4	155487741	155487741	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:155487741C>A	uc003ioa.4	+	2	446	c.407C>A	c.(406-408)gCt>gAt	p.A136D	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Missense_Mutation_p.A77D	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	136					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATGTGGAAGCTGTTTCCCAG	0.433000														593			9		0.000274275	0.000290842	0.004482	1	0
PTGS1	5742	broad.mit.edu	37	9	125148756	125148756	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:125148756C>T	uc004bmg.1	+	8	1176	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	PTGS1_uc011lys.1_Silent_p.Y322Y|PTGS1_uc010mwb.1_Silent_p.Y238Y|PTGS1_uc004bmf.1_Silent_p.Y347Y|PTGS1_uc004bmh.1_Silent_p.Y238Y|PTGS1_uc011lyt.1_Silent_p.Y238Y	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	347					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TCGAGGAGTACGTGCAGCAGC	0.527000														897			20		0	0	0.007413	0	0
PRDM9	56979	broad.mit.edu	37	5	23527083	23527083	+	Missense_Mutation	SNP	G	C	C	rs112192848		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:23527083G>C	uc003jgo.3	+	10	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.612000										HNSCC(3;0.000094)				449			8		0	0	0.004482	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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									214			6		0	0	0.006214	0	0
CHKB	1120	broad.mit.edu	37	22	51021004	51021004	+	Silent	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:51021004C>G	uc003bmv.3	-	0	425	c.207G>C	c.(205-207)ctG>ctC	p.L69L	CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_5'UTR|CHKB_uc003bmu.3_5'UTR|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	69					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGTAAACCCTCAGCTCCTCGG	0.706000														151			4		0	0	0.009096	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														79			4		0	0	0.009096	0	0
ROR2	4920	broad.mit.edu	37	9	94486741	94486741	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:94486741C>T	uc004arj.2	-	8	2234	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ROR2_uc004ari.1_Missense_Mutation_p.G539S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	679	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGACCACACCGTAGGACCAG	0.607000														239			5		0	0	0.014758	0	0
LRRC71	149499	broad.mit.edu	37	1	156897772	156897772	+	Silent	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:156897772A>G	uc001fqm.2	+	8	1144	c.972A>G	c.(970-972)aaA>aaG	p.K324K	LRRC71_uc001fql.2_Silent_p.K109K	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	Homo sapiens leucine rich repeat containing 71 (LRRC71), mRNA.	324										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGCTGGAAAAAGGGACACAGG	0.677000											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			3		0	0	0.009096	0	0
PHACTR4	65979	broad.mit.edu	37	1	28807088	28807088	+	Silent	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:28807088C>A	uc001bpy.3	+	7	1997	c.1762C>A	c.(1762-1764)Cgg>Agg	p.R588R	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.R578R|PHACTR4_uc001bpx.3_Silent_p.R562R	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGAAATACGGCACCAGAT	0.428000														877			17		3.83957e-06	4.3644e-06	0.016522	1	0
PUSL1	126789	broad.mit.edu	37	1	1244619	1244619	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:1244619G>A	uc001aed.3	+	2	319	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_Intron|PUSL1_uc010nyi.2_5'UTR|PUSL1_uc009vjx.3_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	Homo sapiens pseudouridylate synthase-like 1 (PUSL1), mRNA.	97					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGAGGCCCTCAACAC	0.746000														40			3		0	0	0.009096	0	0
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602000														304			7		0	0	0.029380	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000														516			6		0	0	0.029380	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	A	A	rs112083427		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:170871052G>A	uc003qxu.3	+	2	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(8)|p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000														266			6		0	0	0.038147	0	0
PINK1	65018	broad.mit.edu	37	1	20975596	20975596	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:20975596T>G	uc001bdm.3	+	6	1454	c.1360T>G	c.(1360-1362)Tac>Gac	p.Y454D	PINK1_uc001bdn.3_Missense_Mutation_p.Y147D	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	454	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATCCCTTCTACGGCCAGGG	0.607000														241			5		0	0	0.021553	0	0
FAT4	79633	broad.mit.edu	37	4	126238838	126238838	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:126238838C>A	uc003ifj.4	+	0	1272	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S424R(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTGGCCAGCGCCTTGGACC	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		237			13		1.61879e-10	1.98271e-10	0.013537	1	0
SLC35F3	148641	broad.mit.edu	37	1	234454518	234454518	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:234454518G>A	uc001hvy.1	+	5	1121	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	SLC35F3_uc001hwa.1_Missense_Mutation_p.G257S	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	257					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTCCTCCTGGGCAGTGCTAA	0.468000														855			14		0	0	0.016723	0	0
PPP5C	5536	broad.mit.edu	37	19	46857086	46857086	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:46857086G>A	uc002pem.3	+	1	306	c.203G>A	c.(202-204)cGc>cAc	p.R68H	PPP5C_uc002pen.3_Missense_Mutation_p.R68H|PPP5C_uc010xya.2_5'UTR	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	68					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TATGGCAACCGCAGCCTGGCC	0.572000														150			4		0	0	0.014758	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72420448	72420448	+	Missense_Mutation	SNP	C	G	G	rs400282	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:72420448C>G	uc003two.3	-	2	331	c.140G>C	c.(139-141)tGg>tCg	p.W47S	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twm.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twp.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twq.3_Missense_Mutation_p.W47S|NSUN5P2_uc010lan.2_5'UTR					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.									p.W47S(6)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						CACAGGCATCCATGACATGGG	0.612000														348			13		0	0	0.012213	0	0
VEZF1	7716	broad.mit.edu	37	17	56060697	56060697	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:56060697G>T	uc002ivf.1	-	1	234	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	31					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAGAGCTCAGGAGGGGCAGC	0.498000														813			14		1.5842e-08	1.89624e-08	0.016723	1	0
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:45877295G>T	uc021wjs.1	+	0	768	c.768G>T	c.(766-768)ggG>ggT	p.G256G	LRRC3_uc002zfa.3_Silent_p.G256G	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637000														214			13		1.15088e-07	1.36721e-07	0.028581	1	0
MTSS1	9788	broad.mit.edu	37	8	125575104	125575104	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:125575104G>A	uc003yrl.2	-	10	1500	c.966C>T	c.(964-966)tcC>tcT	p.S322S	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_Silent_p.S52S|MTSS1_uc011lio.1_Silent_p.S208S|MTSS1_uc003yri.2_Silent_p.S118S|MTSS1_uc003yrj.2_Silent_p.S318S|MTSS1_uc003yrk.2_Silent_p.S318S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	318	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding	p.S322S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTCATGGGAGGACACGCTGG	0.637000														321			5		0	0	0.021553	0	0
GREM2	64388	broad.mit.edu	37	1	240656720	240656720	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:240656720G>A	uc021plf.1	-	0	56	c.56C>T	c.(55-57)gCg>gTg	p.A19V	GREM2_uc001hys.3_Missense_Mutation_p.A19V	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	19					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGGCTTCCGCCACCTTCAC	0.612000														156			7		0	0	0.029380	0	0
ACBD6	84320	broad.mit.edu	37	1	180461444	180461444	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:180461444A>G	uc001gog.3	-	2	965	c.344T>C	c.(343-345)aTc>aCc	p.I115T		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	Homo sapiens acyl-CoA binding domain containing 6 (ACBD6), mRNA.	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AACTACTGCGATATATTCCTG	0.358000														482			10		0	0	0.024245	0	0
PTPRN	5798	broad.mit.edu	37	2	220162727	220162727	+	Silent	SNP	C	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:220162727C>A	uc002vkz.3	-	12	2008	c.1767G>T	c.(1765-1767)ggG>ggT	p.G589G	PTPRN_uc010zlc.2_Silent_p.G499G|PTPRN_uc002vla.3_Silent_p.G560G	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	589					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G589G(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCACCAGCAGCCCAGCCACAC	0.677000														311			17		3.32936e-07	3.86793e-07	0.038395	1	0
KGFLP2	654466	broad.mit.edu	37	9	41962661	41962661	+	RNA	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:41962661G>A	uc004aca.4	-	2		c.848C>T								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTTCCCCTCCGTTGTTTGTCC	0.368000														158			22		0	0	0.030593	0	0
LRP12	29967	broad.mit.edu	37	8	105502937	105502937	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:105502937G>A	uc003yma.3	-	6	2671	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	LRP12_uc003ymb.3_Silent_p.N829N|LRP12_uc003ylz.3_Silent_p.N254N	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	848					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACTCGTTTCGTTTTTCAGTG	0.418000														618			13		0	0	0.024245	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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														81			4		0	0	0.021553	0	0
WASH2P	375260	broad.mit.edu	37	2	114356221	114356221	+	Silent	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:114356221C>T	uc002tkh.3	+	5	757	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GTGAGGGGCCCGGAGGAGCCT	0.657000														42			3		0	0	0.009096	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000														121			10		0	0	0.021523	0	0
SLC16A9	220963	broad.mit.edu	37	10	61424005	61424005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:61424005G>A	uc010qig.1	-	3	865	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	139					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCCAAGCGCTAGGCCTCG	0.398000														416			8		0	0	0.038147	0	0
WWC1	23286	broad.mit.edu	37	5	167812286	167812286	+	Silent	SNP	G	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:167812286G>T	uc003lzu.3	+	2	393	c.300G>T	c.(298-300)ctG>ctT	p.L100L	WWC1_uc003lzv.3_Silent_p.L100L|WWC1_uc011den.2_Silent_p.L100L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	100					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGATTACCTGGTGGTGGCCC	0.557000														464			7		8.12818e-05	8.67739e-05	0.029380	1	0
FAM155A	728215	broad.mit.edu	37	13	108518718	108518718	+	Missense_Mutation	SNP	T	C	C	rs3832903		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:108518718T>C	uc001vql.3	-	0	743	c.227A>G	c.(226-228)cAg>cGg	p.Q76R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	76	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgccgctgctgctgctg	0.672000														414			9		0	0	0.004482	0	0
RBM6	10180	broad.mit.edu	37	3	50005374	50005374	+	Silent	SNP	A	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:50005374A>T	uc003cyc.3	+	2	764	c.516A>T	c.(514-516)ccA>ccT	p.P172P	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	172					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGCTCCTCCATCTGACTTCA	0.468000														436			7		0	0	0.029380	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:140994960G>A	uc004fbt.3	+	3	2094	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L249L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	590							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)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)				933			12		0	0	0.024245	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	A	A	rs150129920	by1000genomes	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000														581			7		0	0	0.004482	0	0
FOXP2	93986	broad.mit.edu	37	7	114298280	114298280	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:114298280C>T	uc003vhb.3	+	10	1800	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	FOXP2_uc003vgu.3_Intron|FOXP2_uc003vgz.3_Nonsense_Mutation_p.R501*|FOXP2_uc003vha.3_Nonsense_Mutation_p.R384*|FOXP2_uc011kmv.2_Nonsense_Mutation_p.R475*|FOXP2_uc011kmu.2_Nonsense_Mutation_p.R493*|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Nonsense_Mutation_p.R46*	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	476					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.P475P(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						GGGAGCCATACGAAGGCGACA	0.507000														428			15		0	0	0.024245	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:7811329delA	uc001aoi.3	+	19	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_uc001aok.4_Frame_Shift_Del_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Del_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Del_p.Q177fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								---	1602	---	---	18	---					
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:7980912_7980914delCTT	uc001aot.3	-	8	1010_1012	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													---	885	---	---	8	---					
SLC2A5	6518	broad.mit.edu	37	1	9098944	9098946	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:9098944_9098946delCAG	uc001apo.3	-	8	1331_1333	c.1039_1041delCTG	c.(1039-1041)ctgdel	p.L347del	SLC2A5_uc010nzy.2_In_Frame_Del_p.L288del|SLC2A5_uc010nzz.2_In_Frame_Del_p.L232del|SLC2A5_uc010oaa.2_In_Frame_Del_p.L303del	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	347					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGAAGCCCAGCAGCAGCAGC	0.675													---	244	---	---	10	---					
SPEN	23013	broad.mit.edu	37	1	16262465	16262466	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:16262465_16262466insC	uc001axk.1	+	10	9934_9935	c.9730_9731insC	c.(9730-9732)accfs	p.T3244fs	SPEN_uc010obp.1_Frame_Shift_Ins_p.T3203fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3244	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)		AGCTgcccccacccccacccct	0.668													---	278	---	---	9	---					
NBPF1	55672	broad.mit.edu	37	1	16894501	16894501	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:16894501delT	uc009vos.1	-	23	3527	c.2639delA	c.(2638-2640)aagfs	p.K880fs	NBPF1_uc009vot.1_Frame_Shift_Del_p.K338fs|NBPF1_uc001ayz.1_Frame_Shift_Del_p.K338fs|NBPF1_uc010oce.1_Frame_Shift_Del_p.K609fs	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	880	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGGTCCTCCTTTTTCACTTG	0.458													---	1932	---	---	7	---					
MST1P2	11209	broad.mit.edu	37	1	16975913	16975918	+	RNA	DEL	CCTGTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	339	---	---	12	---					
LYPLA2	11313	broad.mit.edu	37	1	24119502	24119502	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:24119502delT	uc001bht.3	+	2	204	c.83delT	c.(82-84)attfs	p.I28fs		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	28					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTCCAGGTTATTTTTTTACAT	0.582													---	1340	---	---	10	---					
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:26349533_26349535delCCT	uc001blf.3	+	0	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	137					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606													---	475	---	---	8	---					
CNKSR1	10256	broad.mit.edu	37	1	26514778	26514778	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:26514778delC	uc001bln.4	+	16	1587	c.1529delC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_uc001blm.4_Frame_Shift_Del_p.A503fs|CNKSR1_uc009vsd.3_Frame_Shift_Del_p.A245fs|CNKSR1_uc009vse.3_Frame_Shift_Del_p.A245fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGGGCCCCCCCACCC	0.607													---	609	---	---	10	---					
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:27875353_27875355delAGG	uc021ojw.1	-	0	3272_3274	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_uc009vsy.3_In_Frame_Del_p.S1091del|AHDC1_uc009vsz.1_In_Frame_Del_p.S1091del	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													---	268	---	---	8	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	T	T	rs137854889		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:40756542_40756543insT	uc001cfg.3	+	8	1287_1288	c.1076_1077insT	c.(1075-1077)tgtfs	p.C359fs		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	359						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332													---	450	---	---	11	---					
SZT2	23334	broad.mit.edu	37	1	43909340	43909340	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:43909340delC	uc001cjk.2	+	60	8611	c.6001delC	c.(6001-6003)cccfs	p.P2001fs	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2900						peroxisome		p.S2000S(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTCGCCCCCGGGAGC	0.577													---	1088	---	---	7	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:44071946_44071948delGCG	uc001cjr.3	+	19	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_uc001cjs.3_In_Frame_Del_p.R1169del|PTPRF_uc001cju.3_In_Frame_Del_p.R556del|PTPRF_uc009vwt.3_In_Frame_Del_p.R738del|PTPRF_uc001cjv.3_In_Frame_Del_p.R638del|PTPRF_uc001cjw.3_In_Frame_Del_p.R404del	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1178					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													---	805	---	---	15	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:46184897_46184898delAC	uc001cou.3	-	5	1430_1431	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs	IPP_uc001cos.4_Frame_Shift_Del_p.C388fs	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													---	570	---	---	18	---					
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:46752129delA	uc001cpn.3	-	3	444	c.400delT	c.(400-402)tccfs	p.S134fs	LRRC41_uc010omb.2_Frame_Shift_Del_p.S134fs|LRRC41_uc001cpo.1_Frame_Shift_Del_p.S134fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	134										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483													---	511	---	---	8	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	350	---	---	10	---					
FGGY	55277	broad.mit.edu	37	1	59812017	59812017	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:59812017delG	uc009wac.3	+	3	624	c.412delG	c.(412-414)gggfs	p.G138fs	FGGY_uc001czg.2_Frame_Shift_Del_p.G26fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Del_p.G138fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	138					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCAGTACGTCGGGGGGGTGAT	0.502													---	422	---	---	7	---					
USP1	7398	broad.mit.edu	37	1	62916271	62916272	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:62916271_62916272insA	uc001daj.2	+	8	2305_2306	c.1977_1978insA	c.(1975-1980)aacaaafs	p.N659fs	USP1_uc001dak.2_Frame_Shift_Ins_p.N659fs|USP1_uc001dal.2_Frame_Shift_Ins_p.N659fs	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	659					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGTTTTGAACAAAAAAAATGT	0.376													---	490	---	---	7	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	-	-	rs113832855		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:77334277_77334279delGCA	uc001dhi.3	+	1	286_288	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_uc010ori.2_In_Frame_Del_p.Q49del|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	49	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													---	339	---	---	7	---					
CLCA4	22802	broad.mit.edu	37	1	87029432	87029432	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:87029432delA	uc009wcs.3	+	3	581	c.537delA	c.(535-537)tcafs	p.S179fs	CLCA4_uc009wct.3_Intron|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	179						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTGCTAAGTCAAAAAAAATCG	0.403													---	479	---	---	7	---					
GBP1P1	400759	broad.mit.edu	37	1	89875989	89875991	+	RNA	DEL	GTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:89875989_89875991delGTG	uc009wcy.1	+	1		c.211_213delGTG								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		TACGCAGCCTGTGGTGGTGGTGG	0.527													---	580	---	---	9	---					
ZNF326	284695	broad.mit.edu	37	1	90470782	90470784	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:90470782_90470784delGTG	uc001dnq.2	+	3	327_329	c.188_190delGTG	c.(187-192)agtggt>agt	p.G68del	ZNF326_uc001dnp.4_In_Frame_Del_p.G68del|ZNF326_uc009wda.1_In_Frame_Del_p.G68del|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	68	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GACAATCACAGTGGTGGTGGTGG	0.409													---	820	---	---	10	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	661	---	---	7	---					
AGL	178	broad.mit.edu	37	1	100378028	100378028	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	504	---	---	8	---					
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:109276138delA	uc001dvx.3	+	9	2124	c.2124delA	c.(2122-2124)ccafs	p.P708fs	FNDC7_uc010ova.2_Frame_Shift_Del_p.P475fs	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	709	Fibronectin type-III 8.					extracellular region		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363													---	570	---	---	16	---					
ADAM30	11085	broad.mit.edu	37	1	120436591	120436591	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:120436591delT	uc001eij.3	-	0	2557	c.2369delA	c.(2368-2370)aagfs	p.K790fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	790					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358													---	1511	---	---	7	---					
SV2A	9900	broad.mit.edu	37	1	149884988	149884989	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:149884988_149884989insC	uc001etg.3	-	1	895_896	c.404_405insG	c.(403-405)ggcfs	p.G135fs	SV2A_uc001eth.2_Frame_Shift_Ins_p.G135fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	135					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTCCCCCCGGCCCCCAGGGGG	0.663													---	668	---	---	9	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:152083818_152083820delCGG	uc009wne.1	-	2	2145_2147	c.1873_1875delCCG	c.(1873-1875)ccgdel	p.P625del	TCHH_uc001ezp.2_In_Frame_Del_p.P625del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	625	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCCTCCGGCTCCTCGCGC	0.680													---	734	---	---	12	---					
KPRP	448834	broad.mit.edu	37	1	152732678	152732678	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:152732678delC	uc001fal.1	+	1	672	c.614delC	c.(613-615)accfs	p.T205fs	KPRP_uc021ozf.1_Frame_Shift_Del_p.T205fs	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	205	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)			AACAACTACACCCCCCAGTTC	0.572													---	1400	---	---	8	---					
GON4L	54856	broad.mit.edu	37	1	155823172	155823172	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:155823172delT	uc001flz.2	-	1	497	c.400delA	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGAGTGTCATTTTTTTCCCT	0.458													---	920	---	---	9	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													---	1247	---	---	37	---					
CCT3	7203	broad.mit.edu	37	1	156290648	156290648	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:156290648delT	uc001fol.2	-	6	822	c.591delA	c.(589-591)aaafs	p.K197fs	CCT3_uc010phj.2_Frame_Shift_Del_p.K151fs|CCT3_uc010phk.2_Frame_Shift_Del_p.K151fs|CCT3_uc001fon.2_Frame_Shift_Del_p.K159fs|CCT3_uc010phl.2_Frame_Shift_Del_p.K151fs	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	197					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCTTGCATATTTTTTTATGT	0.393													---	1284	---	---	9	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:161254154_161254156delGGA	uc001gad.3	+	2	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	35								p.E35delE(2)|p.A30A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													---	690	---	---	11	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	451	---	---	9	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:165177332_165177334delTGC	uc001gcz.2	-	6	977_979	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_uc021pdz.1_In_Frame_Del_p.261_262QQ>Q|LMX1A_uc021pdy.1_In_Frame_Del_p.12_13QQ>Q|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													---	286	---	---	9	---					
PRG4	10216	broad.mit.edu	37	1	186276524	186276526	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:186276524_186276526delAGG	uc001gru.4	+	6	1724_1726	c.1673_1675delAGG	c.(1672-1677)aaggag>aag	p.E559del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.E518del|PRG4_uc009wyl.3_In_Frame_Del_p.E466del|PRG4_uc009wym.3_In_Frame_Del_p.E425del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCACCACCAAGGAGCCTGCACC	0.635													---	737	---	---	7	---					
SYT2	127833	broad.mit.edu	37	1	202568423	202568425	+	In_Frame_Del	DEL	TCT	-	-	rs151217119		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1090	---	---	7	---					
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	-	-	rs142739309		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													---	779	---	---	8	---					
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:237969494delT	uc001hyl.1	+	98	14329	c.14209delT	c.(14209-14211)tttfs	p.F4737fs	RYR2_uc010pyb.1_Frame_Shift_Del_p.F170fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4737					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403													---	243	---	---	9	---					
CPSF3	51692	broad.mit.edu	37	2	9595887	9595888	+	Splice_Site	DEL	GT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:9595887_9595888delGT	uc002qzo.1	+	13	1638	c.1603_splice	c.e13+1	p.G535_splice	CPSF3_uc010ewx.1_Splice_Site_p.G486_splice|CPSF3_uc002qzp.1_Splice_Site_p.G498_splice	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	535					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAATTGACAGGTGTGTGTGTGT	0.366													---	418	---	---	8	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	739	---	---	29	---					
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:20482977_20482979delGCT	uc002rds.1	-	10	1467_1469	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_uc002rdt.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdr.2_In_Frame_Del_p.422_423AA>A|PUM2_uc010yjy.1_In_Frame_Del_p.483_484AA>A|PUM2_uc002rdu.1_In_Frame_Del_p.483_484AA>A|PUM2_uc010yjz.1_In_Frame_Del_p.422_423AA>A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	483	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424													---	702	---	---	10	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	1061	---	---	26	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:26693554_26693556delCTT	uc002rhk.3	-	31	4055_4057	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_uc010yla.2_In_Frame_Del_p.K40del|OTOF_uc002rhh.3_In_Frame_Del_p.K543del|OTOF_uc002rhi.3_In_Frame_Del_p.K620del|OTOF_uc002rhj.3_In_Frame_Del_p.K543del	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													---	617	---	---	13	---					
DHX57	90957	broad.mit.edu	37	2	39074185	39074185	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	316	---	---	17	---					
FOXN2	3344	broad.mit.edu	37	2	48573666	48573667	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:48573666_48573667insA	uc002rwh.1	+	2	628_629	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	105					embryo development|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|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(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATCA	0.431													---	758	---	---	8	---					
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:54093344_54093345insT	uc002rxp.2	-	45	5469_5470	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_uc010yop.1_Frame_Shift_Ins_p.T1695fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Ins_p.T1180fs|PSME4_uc010fbv.1_Frame_Shift_Ins_p.T949fs|PSME4_uc010fbt.1_Frame_Shift_Ins_p.T240fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1805					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401													---	873	---	---	8	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:61575023_61575025delTGG	uc002sbe.3	-	14	2287_2289	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	755					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													---	548	---	---	14	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:73315337_73315339delTGG	uc002siu.4	-	2	1648_1650	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_uc002sit.4_In_Frame_Del_p.H391del	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													---	1241	---	---	10	---					
RGPD1	400966	broad.mit.edu	37	2	87211874	87211875	+	Splice_Site	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	379	---	---	17	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:96919781_96919783delTGC	uc002svq.3	-	3	756_758	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_uc002svr.3_In_Frame_Del_p.Q160del	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	160					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													---	740	---	---	16	---					
REV1	51455	broad.mit.edu	37	2	100055102	100055102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:100055102delT	uc002tad.3	-	5	1386	c.1174delA	c.(1174-1176)atgfs	p.M392fs	REV1_uc002tac.3_Frame_Shift_Del_p.M392fs|REV1_uc002tae.1_Frame_Shift_Del_p.M371fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTTTTCATTTTTTTTAAC	0.348								Direct reversal of damage					---	696	---	---	13	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:113416607_113416608delAG	uc002tib.3	+	6	1523_1524	c.984_985delAG	c.(982-987)ccagagfs	p.P328fs	SLC20A1_uc002tic.1_Frame_Shift_Del_p.P140fs	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													---	575	---	---	16	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:204150380delA	uc010zif.2	+	8	1542	c.920delA	c.(919-921)caafs	p.Q307fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													---	500	---	---	7	---					
RQCD1	9125	broad.mit.edu	37	2	219449364	219449364	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:219449364delT	uc010zkh.2	+	3	350	c.350delT	c.(349-351)cttfs	p.L117fs	RQCD1_uc002vih.1_Frame_Shift_Del_p.L117fs|RQCD1_uc010zki.2_Frame_Shift_Del_p.L117fs	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.P116Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATCCCACTTTTTTTGTAC	0.413													---	1863	---	---	10	---					
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:219892687delG	uc002vjl.1	-	12	1980	c.1896delC	c.(1894-1896)cccfs	p.P632fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.P75fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.P621fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.P567fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	632						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)		ACTCGGTCATGGGGGGGATAT	0.597													---	1019	---	---	8	---					
NCL	4691	broad.mit.edu	37	2	232319942	232319944	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:232319942_232319944delCCT	uc002vru.3	-	13	2232_2234	c.2091_2093delAGG	c.(2089-2094)ggaggt>ggt	p.697_698GG>G		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	697	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498													---	697	---	---	9	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:233243529_233243531delTGC	uc002vsq.3	+	0	182_184	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													---	441	---	---	22	---					
GIGYF2	26058	broad.mit.edu	37	2	233620985	233620987	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:233620985_233620987delGAG	uc002vtj.4	+	6	587_589	c.320_322delGAG	c.(319-324)cgagga>cga	p.G111del	GIGYF2_uc010zmj.1_In_Frame_Del_p.G111del|GIGYF2_uc002vtg.2_In_Frame_Del_p.G111del|GIGYF2_uc002vti.4_In_Frame_Del_p.G111del|GIGYF2_uc002vtk.4_In_Frame_Del_p.G111del|GIGYF2_uc002vth.4_In_Frame_Del_p.G111del|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	111	Poly-Gly.				cell death		protein binding	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424													---	552	---	---	7	---					
GIGYF2	26058	broad.mit.edu	37	2	233676006	233676008	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	610	---	---	10	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	801	---	---	33	---					
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:1371501delA	uc003boz.3	+	10	1513	c.1246delA	c.(1246-1248)aaafs	p.K416fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.K344fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.K416fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	416	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393													---	591	---	---	8	---					
SRGAP3	9901	broad.mit.edu	37	3	9027284	9027286	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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								---	248	---	---	7	---					
PRRT3	285368	broad.mit.edu	37	3	9991858	9991859	+	Splice_Site	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:9991858_9991859insA	uc003bul.2	-	2	74	c.-56_splice	c.e2-1		CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Splice_Site|PRRT3_uc003bum.3_Splice_Site	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.							integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGATGAGCCTAAAAAAAAAAC	0.574													---	65	---	---	10	---					
TMEM40	55287	broad.mit.edu	37	3	12790156	12790158	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:12790156_12790158delGAG	uc011auv.1	-	2	422_424	c.255_257delCTC	c.(253-258)tcctca>tca	p.85_86SS>S	TMEM40_uc003bxg.1_In_Frame_Del_p.69_70SS>S|TMEM40_uc003bxh.1_In_Frame_Del_p.69_70SS>S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	69						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394													---	805	---	---	8	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													---	841	---	---	10	---					
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	640	---	---	10	---					
XIRP1	165904	broad.mit.edu	37	3	39228955	39228958	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:39228955_39228958delTGTC	uc003cjk.2	-	1	2208_2211	c.1979_1982delGACA	c.(1978-1983)agacacfs	p.R660fs	XIRP1_uc003cji.3_Frame_Shift_Del_p.R660fs|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.R660fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	660							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCAAAGACGTGTCTGTCTGTCTG	0.618													---	468	---	---	8	---					
HHATL	57467	broad.mit.edu	37	3	42740315	42740317	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:42740315_42740317delAGC	uc003clw.3	-	5	513_515	c.366_368delGCT	c.(364-369)ctgctt>ctt	p.122_123LL>L	HHATL_uc003clx.3_In_Frame_Del_p.122_123LL>L	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	122					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)		ACAGTGACCAAGCAGCAGCAGCA	0.621													---	801	---	---	16	---					
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:49321969_49321971delTCT	uc003cwq.2	-	17	2397_2399	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_uc003cwp.2_In_Frame_Del_p.K503del|USP4_uc003cwr.2_In_Frame_Del_p.K726del	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	773					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532													---	861	---	---	15	---					
DNAH12	201625	broad.mit.edu	37	3	57509312	57509313	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:57509312_57509313insT	uc003dit.2	-	3	457_458	c.276_277insA	c.(274-279)aaaggafs	p.K92fs	DNAH12_uc003diu.2_Frame_Shift_Ins_p.K92fs	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(3)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAACTCACTCCTTTTTTTTTCA	0.252													---	259	---	---	11	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	368	---	---	13	---					
OR5H6	79295	broad.mit.edu	37	3	97983477	97983477	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:97983477delT	uc003dsi.1	+	0	349	c.349delT	c.(349-351)tttfs	p.F117fs		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGGTACAATTTTTTTCCCT	0.393													---	1092	---	---	7	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1776	---	---	9	---					
DIRC2	84925	broad.mit.edu	37	3	122591321	122591321	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:122591321delT	uc003efw.4	+	7	1337	c.1198delT	c.(1198-1200)tttfs	p.F400fs	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Frame_Shift_Del_p.F238fs	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	400					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CGTGCCTATATTTTTTGAGCT	0.363													---	1244	---	---	7	---					
LOC100125556	100125556	broad.mit.edu	37	3	125647339	125647339	+	Splice_Site	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:125647339delC	uc003eid.4	+	5		c.414_splice	c.e5-1		LOC100125556_uc003eif.4_Splice_Site					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		TGTTTCCAGGCCAGGCCAGGA	0.557													---	768	---	---	9	---					
TRH	7200	broad.mit.edu	37	3	129695598	129695600	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:129695598_129695600delGAG	uc003enc.3	+	2	829_831	c.268_270delGAG	c.(268-270)gagdel	p.E95del		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	95					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E94K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						AGGCAAAAGAgaggaggaggagg	0.571													---	541	---	---	7	---					
COPB2	9276	broad.mit.edu	37	3	139094364	139094365	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:139094364_139094365insT	uc003etf.4	-	5	726_727	c.596_597insA	c.(595-597)aagfs	p.K199fs	COPB2_uc011bmv.2_Frame_Shift_Ins_p.K170fs|COPB2_uc010hui.3_Frame_Shift_Ins_p.K170fs|COPB2_uc011bmw.1_Frame_Shift_Ins_p.K199fs	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	199					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGAGGTATGGCTTGTCCCCACC	0.421													---	788	---	---	8	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:149260194_149260196delCTG	uc003exf.3	-	3	1037_1039	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_uc003exe.3_In_Frame_Del_p.Q233del|WWTR1_uc021xfm.1_In_Frame_Del_p.Q233del|WWTR1_uc003exh.3_In_Frame_Del_p.Q233del	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								---	463	---	---	9	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	657	---	---	31	---					
SLITRK3	22865	broad.mit.edu	37	3	164906329	164906331	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:164906329_164906331delCCT	uc003fej.4	-	1	2732_2734	c.2288_2290delAGG	c.(2287-2292)gaggtg>gtg	p.E763del	SLITRK3_uc003fek.3_In_Frame_Del_p.E763del|SLITRK3_uc021xgy.1_In_Frame_Del_p.E763del	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	763						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)			---	897	---	---	10	---					
BCHE	590	broad.mit.edu	37	3	165548196	165548196	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:165548196delT	uc003fem.4	-	1	786	c.626delA	c.(625-627)aatfs	p.N209fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	209					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.N209Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GGCTGCTATATTTTTTTGAAC	0.458													---	791	---	---	7	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	-	-	rs61743912	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:167747642_167747644delCTG	uc011bpe.1	-	9	1701_1703	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_uc003ffe.2_In_Frame_Del_p.Q453del|GOLIM4_uc011bpf.1_In_Frame_Del_p.Q425del|GOLIM4_uc011bpg.1_In_Frame_Del_p.Q425del	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	453	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													---	372	---	---	16	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													---	444	---	---	7	---					
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:195595229delG	uc003fvu.1	-	11	2438	c.1895delC	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Del_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Del_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Del_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ATAGGCGGGCGGGGGGGGCAG	0.726													---	566	---	---	14	---					
CRIPAK	285464	broad.mit.edu	37	4	1388375	1388376	+	Frame_Shift_Ins	INS	-	CA	CA			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:1388375_1388376insCA	uc003gdf.2	+	0	3036_3037	c.76_77insCA	c.(76-78)tcafs	p.S26fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	26					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCATGTGCCCAT	0.639													---	2403	---	---	7	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	853	---	---	11	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:15995680delT	uc003goo.2	-	14	1909	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Del_p.N557fs|PROM1_uc003got.2_Frame_Shift_Del_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Del_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Del_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Del_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													---	718	---	---	24	---					
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:38691476delC	uc003gth.4	+	3	1003	c.671delC	c.(670-672)tccfs	p.S224fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.S224fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423													---	1220	---	---	11	---					
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	-	-	rs141105019		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:69202891_69202893delTCC	uc003hdx.3	-	3	1088_1090	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_uc003hdy.3_In_Frame_Del_p.245_246EE>E	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	245	Glu-rich.							p.E245E(2)|p.E246E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473													---	375	---	---	10	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:71554620_71554622delGAG	uc003hfo.3	+	0	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													---	324	---	---	12	---					
ANKRD17	26057	broad.mit.edu	37	4	73951008	73951008	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:73951008delA	uc003hgp.3	-	29	7234	c.7117delT	c.(7117-7119)tccfs	p.S2373fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.S2260fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.S2122fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.S2372fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2373					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.S2373P(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAGCGGGGAAAAATGTTGT	0.438													---	2114	---	---	7	---					
AFM	173	broad.mit.edu	37	4	74347531	74347532	+	Frame_Shift_Ins	INS	-	T	T	rs145217978	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:74347531_74347532insT	uc003hhb.3	+	0	70_71	c.39_40insT	c.(37-42)ttgtttfs	p.L13fs		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	13					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312													---	308	---	---	7	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:76539579_76539580insT	uc011cbp.2	-	2	747_748	c.222_223insA	c.(220-225)aaacgafs	p.K74fs	CDKL2_uc003hiq.3_Frame_Shift_Ins_p.K74fs|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													---	396	---	---	19	---					
SEC31A	22872	broad.mit.edu	37	4	83785675	83785677	+	In_Frame_Del	DEL	TGC	-	-	rs140634448		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:83785675_83785677delTGC	uc003hnh.3	-	10	1452_1454	c.1272_1274delGCA	c.(1270-1275)cagcac>cac	p.Q424del	SEC31A_uc003hne.3_In_Frame_Del_p.Q196del|SEC31A_uc011ccl.2_In_Frame_Del_p.Q424del|SEC31A_uc003hnl.3_In_Frame_Del_p.Q424del|SEC31A_uc003hng.3_In_Frame_Del_p.Q424del|SEC31A_uc011ccm.2_In_Frame_Del_p.Q419del|SEC31A_uc003hni.3_In_Frame_Del_p.Q424del|SEC31A_uc003hnk.3_In_Frame_Del_p.Q424del|SEC31A_uc003hnf.3_In_Frame_Del_p.Q424del|SEC31A_uc011ccn.2_In_Frame_Del_p.Q424del|SEC31A_uc003hnm.3_In_Frame_Del_p.Q424del|SEC31A_uc003hnn.2_In_Frame_Del_p.Q424del|SEC31A_uc003hno.3_In_Frame_Del_p.Q424del	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	424	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAACACATGGTGCTGCTGCTGCT	0.448													---	584	---	---	9	---					
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:85611708_85611709delCA	uc003hpd.3	-	60	9721_9722	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.510													---	723	---	---	15	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:90844391_90844393delAGC	uc003hst.3	+	3	994_996	c.923_925delAGC	c.(922-927)gagcag>gag	p.Q313del	MMRN1_uc010iku.3_In_Frame_Del_p.Q279del|MMRN1_uc011cds.2_In_Frame_Del_p.Q55del	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	313	Poly-Gln.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													---	2225	---	---	12	---					
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:128564917delA	uc003ifk.2	+	1	491	c.388delA	c.(388-390)aaafs	p.K130fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	130										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358													---	456	---	---	10	---					
OTUD4	54726	broad.mit.edu	37	4	146059009	146059010	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:146059009_146059010delTC	uc003ika.4	-	20	2860_2861	c.2722_2723delGA	c.(2722-2724)gaafs	p.E908fs		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	972							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGCACAGTTTCTCTCTCTCTG	0.455													---	1336	---	---	7	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													---	567	---	---	13	---					
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:159618709delA	uc003iqb.3	+	8	1164	c.832_splice	c.e8-2	p.L278_splice	ETFDH_uc011cjg.2_Splice_Site_p.L231_splice|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Splice_Site_p.L217_splice|ETFDH_uc010iqs.3_Splice_Site_p.L200_splice	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	278					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTTTTTAGTTATGGGTT	0.348													---	428	---	---	7	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	154	---	---	12	---					
DDX60	55601	broad.mit.edu	37	4	169182016	169182016	+	Splice_Site	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	464	---	---	8	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	592	---	---	10	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:186544620_186544622delGGT	uc003iyg.3	-	12	2323_2325	c.2291_2293delACC	c.(2290-2295)caccgc>cgc	p.H764del	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_In_Frame_Del_p.H750del|SORBS2_uc003iyl.3_In_Frame_Del_p.H650del|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_In_Frame_Del_p.H554del|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	650						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													---	387	---	---	7	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	3	802_804	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													---	269	---	---	13	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:24492973delA	uc003jgr.2	-	9	2083	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			---	1536	---	---	7	---					
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:32089076delA	uc003jhl.3	+	19	5910	c.5522delA	c.(5521-5523)caafs	p.Q1841fs	PDZD2_uc003jhm.3_Frame_Shift_Del_p.Q1841fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1841					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.V1845fs*6(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTCAAGCCAAAAAAAGGGC	0.478													---	644	---	---	8	---					
PAM	5066	broad.mit.edu	37	5	102296908	102296910	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:102296908_102296910delAGA	uc003knt.3	+	12	1510_1512	c.1137_1139delAGA	c.(1135-1140)cgagaa>cga	p.E383del	PAM_uc003knw.3_In_Frame_Del_p.E383del|PAM_uc003kns.3_In_Frame_Del_p.E383del|PAM_uc003knu.3_In_Frame_Del_p.E383del|PAM_uc011cuz.2_In_Frame_Del_p.E286del|PAM_uc003knv.3_In_Frame_Del_p.E383del|PAM_uc003knx.1_In_Frame_Del_p.E75del	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	383	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGCCAAAACGAGAAGAAGAAGAA	0.325													---	785	---	---	12	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	-	-	rs80118146		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:115202418_115202421delAAGA	uc003krl.3	+	1	237_240	c.121_124delAAGA	c.(121-126)aagagafs	p.K41fs	AP3S1_uc003krk.3_Frame_Shift_Del_p.K19fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													---	448	---	---	18	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1443	---	---	8	---					
MEGF10	84466	broad.mit.edu	37	5	126792989	126792991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:126792989_126792991delCAG	uc003kuh.4	+	25	3764_3766	c.3402_3404delCAG	c.(3400-3405)aacagc>aac	p.S1139del	MEGF10_uc003kui.4_In_Frame_Del_p.S1139del	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1139	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		gcagcagcaacagcagcagcagc	0.512													---	460	---	---	16	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	-	-	rs72552721		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:131676327delT	uc003kwq.3	+	8	1679	c.1514delT	c.(1513-1515)cttfs	p.L505fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													---	1259	---	---	10	---					
AFF4	27125	broad.mit.edu	37	5	132270259	132270259	+	Frame_Shift_Del	DEL	T	-	-	rs35626495		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:132270259delT	uc003kyd.3	-	2	906	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Frame_Shift_Del_p.K166fs|AFF4_uc003kyf.4_Frame_Shift_Del_p.K166fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	166	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512													---	1221	---	---	7	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:137801633_137801635delCAG	uc003ldb.1	+	0	453_455	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	67	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.700													---	294	---	---	8	---					
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:139905676delA	uc003lfs.2	+	25	4742	c.4588delA	c.(4588-4590)aaafs	p.K1530fs	ANKHD1-EIF4EBP3_uc003lfr.3_Frame_Shift_Del_p.K1530fs|ANKHD1-EIF4EBP3_uc003lfu.1_Frame_Shift_Del_p.K1010fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Del_p.K269fs|ANKHD1-EIF4EBP3_uc003lfw.3_Frame_Shift_Del_p.K168fs|ANKHD1-EIF4EBP3_uc010jfl.3_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1530						cytoplasm|nucleus	RNA binding	p.G1529G(1)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													---	1189	---	---	10	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													---	2413	---	---	9	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:156535948_156535950delAGC	uc003lwk.2	-	0	299_301	c.45_47delGCT	c.(43-48)ctgcta>cta	p.15_16LL>L	HAVCR2_uc003lwl.3_In_Frame_Del_p.15_16LL>L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	15						integral to membrane		p.L15L(2)|p.L18delL(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAAGTAGTAGCAGCAGCAGCA	0.438													---	484	---	---	10	---					
RMND5B	64777	broad.mit.edu	37	5	177569910	177569912	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:177569910_177569912delCAG	uc011dgf.2	+	1	478_480	c.466_468delCAG	c.(466-468)cagdel	p.Q159del	RMND5B_uc003mim.3_In_Frame_Del_p.Q118del|RMND5B_uc003min.3_In_Frame_Del_p.Q118del|RMND5B_uc003mio.3_In_Frame_Del_p.Q105del|RMND5B_uc003miq.3_In_Frame_Del_p.Q58del	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	118	CTLH.							p.Q115Q(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGCGGGAACAGCAGCAGCAGA	0.616													---	1023	---	---	7	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:179149920delT	uc011dgp.2	+	10	1478	c.1403delT	c.(1402-1404)attfs	p.I468fs	CANX_uc003mkk.3_Frame_Shift_Del_p.I433fs|CANX_uc003mkl.3_Frame_Shift_Del_p.I433fs|CANX_uc011dgq.2_Frame_Shift_Del_p.I325fs	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	433					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													---	692	---	---	11	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:18264079_18264081delTCC	uc003ncr.1	-	1	331_333	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_uc011djf.1_In_Frame_Del_p.46_47EE>E|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								---	462	---	---	13	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	794	---	---	21	---					
HLA-J	3137	broad.mit.edu	37	6	29977389	29977393	+	Frame_Shift_Del	DEL	CTTCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:29977389_29977393delCTTCT	uc021yty.1	+	4	435_439	c.417_421delCTTCT	c.(415-423)gacttctctfs	p.D139fs	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Frame_Shift_Del_p.D136fs					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		AGAACCCTGACTTCTCTTTCTGCAA	0.488													---	212	---	---	12	---					
TRIM26	7726	broad.mit.edu	37	6	30157254	30157254	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30157254delT	uc003npr.3	-	6	1054	c.845delA	c.(844-846)aagfs	p.K282fs	TRIM26_uc003nps.3_Frame_Shift_Del_p.K282fs|TRIM26_uc003npt.3_Frame_Shift_Del_p.K282fs|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	282							DNA binding|zinc ion binding	p.K282fs*16(1)		lung(1)|ovary(2)	3						TTCTCCGGTCTTTTTTTTAAC	0.483													---	708	---	---	13	---					
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30570264_30570266delGGA	uc003nqn.1	-	18	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P	PPP1R10_uc010jsc.1_In_Frame_Del_p.374_375PP>P	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	720	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.670													---	420	---	---	9	---					
PPP1R10	5514	broad.mit.edu	37	6	30572795	30572795	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30572795delT	uc003nqn.1	-	10	1482	c.930delA	c.(928-930)aaafs	p.K310fs	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	310	Interaction with TOX4 (By similarity).|Poly-Lys.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGACAGTACTTTTTTTTTCT	0.448													---	369	---	---	12	---					
CDSN	1041	broad.mit.edu	37	6	31084620	31084622	+	In_Frame_Del	DEL	CCA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:31084620_31084622delCCA	uc003nsm.2	-	1	826_828	c.770_772delTGG	c.(769-774)gtggac>gac	p.V257del	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	257	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGTGCTGGTCCACCACCACCAC	0.635													---	349	---	---	7	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:33287898_33287900delTCC	uc003oec.3	-	4	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaggaa>gaa	p.451_452EE>E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_In_Frame_Del_p.451_452EE>E|DAXX_uc021ywo.1_In_Frame_Del_p.451_452EE>E|DAXX_uc011dre.2_In_Frame_Del_p.463_464EE>E|DAXX_uc003oed.3_In_Frame_Del_p.451_452EE>E|DAXX_uc011drd.2_In_Frame_Del_p.376_377EE>E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(4)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	331	---	---	10	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:35478775_35478777delTCC	uc003okv.4	-	4	372_374	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_uc003okw.4_In_Frame_Del_p.67_68EE>E|TULP1_uc021yyx.1_In_Frame_Del_p.120_121EE>E|TULP1_uc021yyy.1_In_Frame_Del_p.120_121EE>E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	120	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	p.E119K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													---	747	---	---	7	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	299	---	---	25	---					
UBR2	23304	broad.mit.edu	37	6	42611951	42611951	+	Splice_Site	DEL	G	-	-	rs112519289		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:42611951delG	uc011dur.2	+	19	2396	c.2098_splice	c.e19-1	p.T700_splice	UBR2_uc011dus.2_Splice_Site_p.T345_splice|UBR2_uc010jxv.1_Splice_Site_p.T204_splice|UBR2_uc003osh.3_Splice_Site	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	700					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAAAAAAAAGACAGGTGTCT	0.373													---	587	---	---	8	---					
SENP6	26054	broad.mit.edu	37	6	76405603	76405604	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:76405603_76405604delAG	uc003pid.4	+	16	2778_2779	c.2159_2160delAG	c.(2158-2160)cagfs	p.Q720fs	SENP6_uc003pie.4_Frame_Shift_Del_p.Q713fs|SENP6_uc010kbf.3_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	720	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CGCCTTAATCAGAGAGAGAGGA	0.317													---	793	---	---	7	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:80751896_80751897insA	uc003pjc.3	+	21	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_uc003pjb.4_Frame_Shift_Ins_p.E850fs	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													---	568	---	---	10	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:89975427_89975429delAAG	uc003pnb.2	-	6	875_877	c.867_869delCTT	c.(865-870)ttcttg>ttg	p.F289del	GABRR2_uc011dzx.1_In_Frame_Del_p.F165del	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													---	554	---	---	9	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:91296568_91296570delGAG	uc003pnz.1	-	0	338_340	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_uc003pob.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poa.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poc.1_In_Frame_Del_p.11_12SS>S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	11	Poly-Ser.				I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													---	255	---	---	15	---					
FAM54A	113115	broad.mit.edu	37	6	136560838	136560840	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:136560838_136560840delGGA	uc010kgp.1	-	5	1023_1025	c.633_635delTCC	c.(631-636)cctcca>cca	p.211_212PP>P	FAM54A_uc003qgt.1_In_Frame_Del_p.211_212PP>P|FAM54A_uc003qgu.1_In_Frame_Del_p.168_169PP>P	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	211	Pro-rich.							p.P212P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		aggaagtggtggaggaggaggag	0.507													---	398	---	---	7	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:137519505_137519506delCT	uc003qho.2	-	6	1235_1236	c.1132_1133delAG	c.(1132-1134)agtfs	p.S378fs	IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	378					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													---	843	---	---	12	---					
AIG1	51390	broad.mit.edu	37	6	143457987	143457987	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:143457987delT	uc003qjh.3	+	1	197	c.157delT	c.(157-159)tttfs	p.F53fs	AIG1_uc003qjf.3_Frame_Shift_Del_p.F43fs|AIG1_uc003qji.3_Intron|AIG1_uc011edw.1_Frame_Shift_Del_p.F53fs|AIG1_uc003qjg.3_Frame_Shift_Del_p.F53fs	NM_016108	NP_057192	Q9NVV5	AIG1_HUMAN	Homo sapiens androgen-induced 1 (AIG1), mRNA.	53						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		CCAGGCTGTCTTTTTTGGCAT	0.507													---	1639	---	---	10	---					
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086414	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	840	---	---	15	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1313	---	---	10	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	971	---	---	8	---					
SYNE1	23345	broad.mit.edu	37	6	152719836	152719836	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:152719836delA	uc021zhb.1	-	46	7491	c.7268delT	c.(7267-7269)ttgfs	p.L2423fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.L2430fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.L2423fs|SYNE1_uc010kjb.1_Frame_Shift_Del_p.L2406fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2423					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)		CTTTGCTCCCAAAAACCATTC	0.378										HNSCC(10;0.0054)			---	1065	---	---	9	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													---	1445	---	---	11	---					
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:161469776delA	uc003qtn.3	+	2	614	c.472delA	c.(472-474)aaafs	p.K158fs	MAP3K4_uc010kkc.1_Frame_Shift_Del_p.K158fs|MAP3K4_uc003qto.3_Frame_Shift_Del_p.K158fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	158					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403													---	776	---	---	7	---					
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:11075380_11075381delAG	uc003sry.2	+	7	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.Q523fs	PHF14_uc011jxi.2_Frame_Shift_Del_p.Q238fs|PHF14_uc011jxj.2_Frame_Shift_Del_p.Q238fs	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													---	1333	---	---	12	---					
HOXA3	3200	broad.mit.edu	37	7	27148052	27148053	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:27148052_27148053insG	uc011jzl.2	-	2	1013_1014	c.813_814insC	c.(811-816)cccggafs	p.P271fs	HOXA3_uc003syk.3_Frame_Shift_Ins_p.P271fs	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	271					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P270P(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACCGGCTCCGGGGGGCACGG	0.619													---	998	---	---	7	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:33312723delT	uc003tdn.1	+	7	1315	c.802delT	c.(802-804)tttfs	p.F268fs	BBS9_uc003tdo.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdp.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdq.1_Frame_Shift_Del_p.F268fs|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Frame_Shift_Del_p.F268fs|BBS9_uc011kao.1_Frame_Shift_Del_p.F146fs	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	268					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				---	1009	---	---	7	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	178	---	---	7	---					
TRIM50	135892	broad.mit.edu	37	7	72734195	72734195	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:72734195delT	uc003txy.1	-	2	647	c.446delA	c.(445-447)aagfs	p.K149fs	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Frame_Shift_Del_p.K149fs|TRIM50_uc003txz.1_Frame_Shift_Del_p.K149fs	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	149						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCATCCACCTTTTTCTGCTC	0.607													---	1711	---	---	7	---					
ABCB4	5244	broad.mit.edu	37	7	87074281	87074282	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:87074281_87074282insA	uc003uiv.1	-	9	1091_1092	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_uc003uiw.1_Frame_Shift_Ins_p.S339fs|ABCB4_uc003uix.1_Frame_Shift_Ins_p.S339fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													---	216	---	---	10	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:91671392_91671393delAG	uc003ulg.3	+	18	5175_5176	c.4950_4951delAG	c.(4948-4953)tcagagfs	p.S1650fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.S1275fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								---	371	---	---	11	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	914	---	---	16	---					
DYNC1I1	1780	broad.mit.edu	37	7	95614249	95614249	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:95614249delT	uc003uoc.4	+	7	1031	c.754delT	c.(754-756)tttfs	p.F252fs	DYNC1I1_uc003uod.4_Frame_Shift_Del_p.F235fs|DYNC1I1_uc003uob.3_Frame_Shift_Del_p.F215fs|DYNC1I1_uc003uoe.4_Frame_Shift_Del_p.F232fs|DYNC1I1_uc010lfl.3_Frame_Shift_Del_p.F241fs	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	252					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTCCGACATCTTTTTTGACTA	0.383													---	960	---	---	7	---					
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:97820131_97820132delAG	uc003upd.2	+	9	1383_1384	c.1090_1091delAG	c.(1090-1092)agafs	p.R364fs		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													---	2091	---	---	7	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	-	-	rs71555278		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	494	---	---	9	---					
GIGYF1	64599	broad.mit.edu	37	7	100281686	100281688	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:100281686_100281688delGCT	uc003uwg.1	-	14	2832_2834	c.1823_1825delAGC	c.(1822-1827)cagctc>ctc	p.Q608del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	608	Gln-rich.|Poly-Gln.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AATGCCGTGAGCTGCTGCTGCTG	0.690													---	190	---	---	9	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:100284335_100284337delCCT	uc003uwg.1	-	6	1638_1640	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	210	Poly-Glu.							p.E210delE(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													---	361	---	---	15	---					
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:102964992delT	uc003vbo.3	-	5	841	c.590delA	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Del_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239													---	485	---	---	8	---					
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:156743209_156743211delGAG	uc003wmy.3	+	0	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E264*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552													---	365	---	---	7	---					
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:158704353delA	uc003woe.4	+	11	1731	c.1573delA	c.(1573-1575)aaafs	p.K525fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.K157fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	525								p.G524R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328													---	608	---	---	7	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	T	T	rs34047276		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:6378797_6378798insT	uc003wqj.4	-	3	1029_1030	c.700_701insA	c.(700-702)atafs	p.I234fs	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Frame_Shift_Ins_p.I234fs|ANGPT2_uc010lri.3_Frame_Shift_Ins_p.I182fs|ANGPT2_uc003wql.4_Frame_Shift_Ins_p.I234fs	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	234					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													---	593	---	---	17	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	-	-	rs137989738		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	475	---	---	16	---					
TEX15	56154	broad.mit.edu	37	8	30700867	30700867	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:30700867delA	uc003xil.3	-	0	5667	c.5667delT	c.(5665-5667)tttfs	p.F1889fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1889										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGCAGCATCAAAAAAGATAT	0.333													---	1073	---	---	9	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					---	2472	---	---	15	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:59750796_59750798delCTT	uc003xtw.1	-	4	987_989	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													---	1048	---	---	14	---					
MTFR1	9650	broad.mit.edu	37	8	66619294	66619295	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:66619294_66619295insC	uc011lep.2	+	5	779_780	c.567_568insC	c.(565-570)cctcccfs	p.P189fs	MTFR1_uc003xvm.2_Frame_Shift_Ins_p.P189fs|MTFR1_uc003xvn.2_Frame_Shift_Ins_p.P156fs	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	189	Pro-rich.					mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ACCCTCCACCTCCCCCACCGCC	0.475													---	737	---	---	7	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:74507471delT	uc003xzm.3	-	10	1432	c.1091delA	c.(1090-1092)aatfs	p.N364fs	STAU2_uc011lfh.2_Frame_Shift_Del_p.N260fs|STAU2_uc003xzn.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfg.2_Frame_Shift_Del_p.N192fs|STAU2_uc003xzo.3_Frame_Shift_Del_p.N364fs|STAU2_uc003xzq.3_Frame_Shift_Del_p.N144fs|STAU2_uc003xzp.3_Frame_Shift_Del_p.N332fs|STAU2_uc011lfi.2_Frame_Shift_Del_p.N326fs|STAU2_uc010lzk.3_Frame_Shift_Del_p.N332fs|STAU2_uc010lzl.1_Frame_Shift_Del_p.N192fs	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)|p.G364V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													---	732	---	---	17	---					
NBN	4683	broad.mit.edu	37	8	90965543	90965543	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:90965543delT	uc003yej.1	-	10	1884	c.1774delA	c.(1774-1776)aggfs	p.R592fs	NBN_uc011lgb.1_Frame_Shift_Del_p.R592fs|NBN_uc003yei.1_Frame_Shift_Del_p.R510fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	592					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCTTGGCCTTTTTCTAACA	0.338								Homologous recombination					---	1125	---	---	7	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:124368685delA	uc003yqh.4	-	12	1698	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_uc011lii.2_Frame_Shift_Del_p.F321fs|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Del_p.F530fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													---	278	---	---	7	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	-	-	rs61752959	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	571	---	---	16	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	-	-	rs2272753	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	95	---	---	11	---					
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:144890900_144890902delTCC	uc003yzp.1	-	14	1999_2001	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_uc003yzo.1_In_Frame_Del_p.664_665EE>E	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665													---	291	---	---	8	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	957	---	---	16	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	-	-	rs62565543		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:40715923_40715924delAA	uc010mmk.2	+	0		c.400_401delAA								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													---	217	---	---	13	---					
BC080605	0	broad.mit.edu	37	9	68413567	68413567	+	RNA	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:68413567delG	uc004aex.3	+	0		c.122delG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CTCCCCCAGTGGCGCCGGATC	0.602													---	90	---	---	7	---					
FKBP15	23307	broad.mit.edu	37	9	115969556	115969556	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:115969556delT	uc004bgs.2	-	2	343	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_uc010muu.1_Frame_Shift_Del_p.T128fs|FKBP15_uc011lxd.1_5'UTR|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Frame_Shift_Del_p.T64fs	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	64					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418													---	1973	---	---	8	---					
DAB2IP	153090	broad.mit.edu	37	9	124522389	124522391	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:124522389_124522391delAAG	uc004bln.3	+	5	826_828	c.757_759delAAG	c.(757-759)aagdel	p.K257del	DAB2IP_uc004blo.3_In_Frame_Del_p.K161del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	285	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGACCGACAAGAAGAAGAAGA	0.601													---	526	---	---	12	---					
CRB2	286204	broad.mit.edu	37	9	126139182	126139184	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:126139182_126139184delCCT	uc004bnx.1	+	12	3791_3793	c.3699_3701delCCT	c.(3697-3702)tgcctc>tgc	p.L1239del		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1239				Missing (in Ref. 2; BAC86684).		extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCTGTGCCTGCCTCCTCCTCCTC	0.670													---	120	---	---	9	---					
ENG	2022	broad.mit.edu	37	9	130581107	130581107	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:130581107delT	uc004bsj.4	-	10	1729	c.1316delA	c.(1315-1317)aagfs	p.K439fs	ENG_uc011mam.2_Frame_Shift_Del_p.K250fs|ENG_uc004bsk.4_Frame_Shift_Del_p.K439fs|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	439	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GCAGTGCACCTTTTTCTGGGG	0.637									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				---	1624	---	---	7	---					
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:137693829delC	uc004cfe.3	+	37	3364	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657													---	790	---	---	8	---					
ADARB2	105	broad.mit.edu	37	10	1779264	1779266	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:1779264_1779266delCCT	uc009xhq.3	-	0	405_407	c.79_81delAGG	c.(79-81)aggdel	p.R29del		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	29					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGACCTCCGCCTCCTCCTCCTC	0.700													---	598	---	---	7	---					
STAM	8027	broad.mit.edu	37	10	17756616	17756618	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:17756616_17756618delCTG	uc001ipj.2	+	13	1675_1677	c.1460_1462delCTG	c.(1459-1464)actgct>act	p.A491del	STAM_uc010qcf.2_In_Frame_Del_p.A380del|STAM_uc009xjw.2_In_Frame_Del_p.A149del	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	491					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTGCCGCTACTGCTGCTGCTGC	0.493													---	815	---	---	8	---					
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:33018277delA	uc001iwm.1	+	7	882	c.646delA	c.(646-648)aaafs	p.K216fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.K248fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.K240fs|C10orf68_uc010qei.1_Frame_Shift_Del_p.K152fs|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	240										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323													---	441	---	---	8	---					
PARD3	56288	broad.mit.edu	37	10	34620059	34620061	+	In_Frame_Del	DEL	TCA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:34620059_34620061delTCA	uc010qej.2	-	18	3156_3158	c.2826_2828delTGA	c.(2824-2829)gatgaa>gaa	p.D942del	PARD3_uc010qep.2_In_Frame_Del_p.D852del|PARD3_uc010qeq.2_In_Frame_Del_p.D867del|PARD3_uc010qek.2_In_Frame_Del_p.D939del|PARD3_uc010qel.2_In_Frame_Del_p.D942del|PARD3_uc010qem.2_In_Frame_Del_p.D926del|PARD3_uc010qen.2_In_Frame_Del_p.D896del|PARD3_uc010qeo.2_In_Frame_Del_p.D896del|PARD3_uc001ixo.2_In_Frame_Del_p.D655del|PARD3_uc001ixr.2_In_Frame_Del_p.D939del|PARD3_uc001ixq.2_In_Frame_Del_p.D896del|PARD3_uc001ixp.2_In_Frame_Del_p.D908del|PARD3_uc001ixt.1_In_Frame_Del_p.D760del|PARD3_uc001ixu.2_In_Frame_Del_p.D884del|PARD3_uc001ixs.1_In_Frame_Del_p.D565del	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	942					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCCATGCCTTCATCATCATCAT	0.433													---	564	---	---	12	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	-	-	rs4253047	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:50732139_50732141delCCT	uc001jhs.4	-	4	1489_1491	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_In_Frame_Del_p.445_446GG>G|ERCC6_uc001jhu.3_In_Frame_Del_p.445_446GG>G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					---	1013	---	---	8	---					
FLJ31813	326332	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:51821328delG	uc001jiz.1	-	1		c.1307delC								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		CGGTCAGCTTGGGGGGTGCGA	0.517													---	1220	---	---	8	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:52569667_52569669delAGC	uc001jjj.3	-	11	1806_1808	c.1618_1620delGCT	c.(1618-1620)gctdel	p.A540del	A1CF_uc010qho.2_In_Frame_Del_p.A548del|A1CF_uc010qhn.2_In_Frame_Del_p.A540del|A1CF_uc009xov.3_In_Frame_Del_p.A532del|A1CF_uc001jji.3_In_Frame_Del_p.A532del|A1CF_uc001jjh.3_In_Frame_Del_p.A540del	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													---	605	---	---	10	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	791	---	---	7	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	648	---	---	8	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:70509285_70509286delGA	uc001joo.3	+	9	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													---	285	---	---	15	---					
PRF1	5551	broad.mit.edu	37	10	72358622	72358624	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:72358622_72358624delCTT	uc009xqg.3	-	2	1014_1016	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_uc001jrf.4_In_Frame_Del_p.K285del	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	285	MACPF.		Missing (in FHL2).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				---	621	---	---	8	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:81070787_81070789delCTC	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													---	1095	---	---	23	---					
STAMBPL1	57559	broad.mit.edu	37	10	90682146	90682146	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:90682146delA	uc001kfk.3	+	9	1630	c.1207delA	c.(1207-1209)aaafs	p.K403fs	STAMBPL1_uc010qmx.1_Frame_Shift_Del_p.K403fs|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Frame_Shift_Del_p.K403fs|STAMBPL1_uc001kfn.3_Frame_Shift_Del_p.K237fs	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	403							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTGCTTGTAAAAAAAAGGG	0.423													---	475	---	---	7	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:98336475delT	uc001kmm.4	-	1	431	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													---	893	---	---	13	---					
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:101559000delA	uc001kqf.2	+	7	1043	c.904delA	c.(904-906)aaafs	p.K302fs		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	302						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGGGACCAAAAAAGATGT	0.403													---	1275	---	---	14	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:102107836_102107838delACC	uc001kqy.3	+	1	533_535	c.43_45delACC	c.(43-45)accdel	p.T19del		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													---	1076	---	---	7	---					
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:103345131_103345133delGGA	uc001ktg.1	-	2	1279_1281	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_In_Frame_Del_p.171_172PP>P|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_In_Frame_Del_p.171_172PP>P|POLL_uc001kti.2_In_Frame_Del_p.171_172PP>P|POLL_uc001ktl.3_In_Frame_Del_p.83_84PP>P|POLL_uc001ktm.3_In_Frame_Del_p.171_172PP>P|POLL_uc010qqc.2_Intron|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Intron|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	171					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)					---	599	---	---	11	---					
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	594	---	---	9	---					
NOLC1	9221	broad.mit.edu	37	10	103917043	103917045	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:103917043_103917045delGAG	uc001kup.2	+	2	509_511	c.274_276delGAG	c.(274-276)gagdel	p.E96del	NOLC1_uc001kuo.2_In_Frame_Del_p.E96del|NOLC1_uc001kuq.2_In_Frame_Del_p.E97del|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	96	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.E96delE(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGACAGCAGCGAGGAGGAGGAGG	0.537													---	338	---	---	8	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	722	---	---	9	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:125528165_125528167delCAG	uc001lhk.1	-	8	1499_1501	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													---	1340	---	---	23	---					
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	-	-	rs145320037		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	282	---	---	21	---					
RRP8	23378	broad.mit.edu	37	11	6623336	6623338	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:6623336_6623338delTCC	uc001med.3	-	1	355_357	c.207_209delGGA	c.(205-210)gaggaa>gaa	p.69_70EE>E	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	69	Poly-Glu.				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CTTCTTCCTTTCCTCCTCCTCCT	0.532													---	497	---	---	11	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	983	---	---	11	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1042	---	---	16	---					
E2F8	79733	broad.mit.edu	37	11	19251461	19251461	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:19251461delG	uc001mpm.3	-	9	1955	c.1433delC	c.(1432-1434)ccafs	p.P478fs	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Frame_Shift_Del_p.P478fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	478					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCATTCACTGGGGGGTCCAG	0.547													---	2282	---	---	9	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:47359101_47359103delTCT	uc021qis.1	-	24	2496_2498	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_uc021qir.1_In_Frame_Del_p.K466del|MYBPC3_uc010rhl.2_Intron	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													---	523	---	---	10	---					
LOC440041	440041	broad.mit.edu	37	11	55065031	55065032	+	RNA	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:55065031_55065032insT	uc021qjb.1	-	1		c.394_395insA			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CAAAGACTGCATTTTTTTTTAG	0.396													---	357	---	---	8	---					
EEF1G	1937	broad.mit.edu	37	11	62334377	62334377	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:62334377delT	uc001ntm.1	-	6	904	c.758delA	c.(757-759)aagfs	p.K253fs	EEF1G_uc010rlw.1_Frame_Shift_Del_p.K303fs	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	253					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCAGCCGCCTTTTTCTCCTC	0.587													---	517	---	---	7	---					
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:62649529delA	uc001nwd.3	+	4	1150	c.892delA	c.(892-894)aaafs	p.K298fs	SLC3A2_uc001nwc.3_Frame_Shift_Del_p.K299fs|SLC3A2_uc001nwf.3_Frame_Shift_Del_p.K236fs|SLC3A2_uc001nwg.3_Frame_Shift_Del_p.K197fs|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	298					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463													---	526	---	---	13	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:72528863_72528865delAGG	uc001otd.3	+	2	321_323	c.281_283delAGG	c.(280-285)caggag>cag	p.E98del	ATG16L2_uc001otc.1_In_Frame_Del_p.E98del|ATG16L2_uc010rrf.1_In_Frame_Del_p.E98del|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_In_Frame_Del_p.E98del	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	98					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													---	358	---	---	8	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:118629613_118629614insG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								---	1041	---	---	25	---					
BCL9L	283149	broad.mit.edu	37	11	118772974	118772974	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:118772974delG	uc001pug.3	-	5	2443	c.1478delC	c.(1477-1479)ccgfs	p.P493fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.P488fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	493	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTCCCCACCCGGGGGGTGCCC	0.622													---	1435	---	---	8	---					
VWF	7450	broad.mit.edu	37	12	6128360	6128362	+	In_Frame_Del	DEL	CTT	-	-	rs141990425		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6128360_6128362delCTT	uc001qnn.1	-	27	4472_4474	c.4222_4224delAAG	c.(4222-4224)aagdel	p.K1408del	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1408	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACAATGACCTTCTTCTTCTTC	0.611													---	709	---	---	7	---					
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	-	-	rs71584865	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6711145_6711147delTCC	uc001qpo.3	-	3	581_583	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_uc001qpn.3_In_Frame_Del_p.E132del|CHD4_uc001qpp.3_In_Frame_Del_p.E136del	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	139	Poly-Asp.		E -> D (in dbSNP:rs1639122).		chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453													---	354	---	---	15	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	294	---	---	9	---					
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6711546delT	uc001qpo.3	-	2	382	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.K73fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.K70fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	73					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468													---	1780	---	---	8	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													---	174	---	---	9	---					
ITPR2	3709	broad.mit.edu	37	12	26749901	26749901	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:26749901delT	uc001rhg.3	-	30	4586	c.4169delA	c.(4168-4170)aatfs	p.N1390fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1390					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTGTAGACATTTTTCCCCTC	0.527													---	792	---	---	7	---					
KLHDC5	57542	broad.mit.edu	37	12	27950769	27950769	+	Frame_Shift_Del	DEL	G	-	-	rs145908611	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:27950769delG	uc001rij.3	+	2	1265	c.1188delG	c.(1186-1188)gtgfs	p.V396fs		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	396										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					TCTACATCGTGGGGGGGTGTC	0.592													---	1050	---	---	7	---					
C12orf35	55196	broad.mit.edu	37	12	32134718	32134720	+	In_Frame_Del	DEL	CCT	-	-	rs79406084	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:32134718_32134720delCCT	uc001rks.3	+	3	1243_1245	c.829_831delCCT	c.(829-831)cctdel	p.P281del		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	281										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TGACAAAAGACCTCCTCCTCCTC	0.414													---	868	---	---	9	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:50452565_50452567delGAG	uc001rvv.3	+	1	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_uc001rvw.3_In_Frame_Del_p.E9del|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_In_Frame_Del_p.E9del	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													---	632	---	---	9	---					
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:54645832delT	uc001sfh.4	-	2	635	c.317delA	c.(316-318)aagfs	p.K106fs	CBX5_uc001sfk.4_Frame_Shift_Del_p.K106fs|CBX5_uc001sfj.4_Frame_Shift_Del_p.K106fs	NM_001127322	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 1, mRNA.	106					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323													---	1245	---	---	8	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:55615114_55615116delCTT	uc010spf.2	+	0	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													---	1224	---	---	15	---					
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:55759486delT	uc010spk.2	+	0	592	c.592delT	c.(592-594)tttfs	p.F198fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393													---	661	---	---	12	---					
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:56559113delG	uc001skb.3	-	25	3234	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_uc001skd.3_Frame_Shift_Del_p.P1074fs|SMARCC2_uc001ska.3_Frame_Shift_Del_p.P1074fs|SMARCC2_uc001skc.3_Frame_Shift_Del_p.P1073fs|SMARCC2_uc010sqf.2_Frame_Shift_Del_p.P963fs	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.	1043	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)			ATGGGGTCCAGGGGGGGGAAC	0.577													---	776	---	---	8	---					
SMARCC2	6601	broad.mit.edu	37	12	56559127	56559128	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:56559127_56559128insG	uc001skb.3	-	25	3219_3220	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_uc001skd.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001ska.3_Frame_Shift_Ins_p.P1069fs|SMARCC2_uc001skc.3_Frame_Shift_Ins_p.P1068fs|SMARCC2_uc010sqf.2_Frame_Shift_Ins_p.P958fs	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.	1038	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)			GGGGAACCCCTGGTGGGACTGC	0.584													---	700	---	---	8	---					
TIMELESS	8914	broad.mit.edu	37	12	56824025	56824025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:56824025delT	uc001slf.2	-	9	1118	c.950delA	c.(949-951)aagfs	p.K317fs	TIMELESS_uc001slg.2_Frame_Shift_Del_p.K316fs	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	317					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTTAGGCACCTTTTTCGGCTG	0.532													---	601	---	---	8	---					
LRP1	4035	broad.mit.edu	37	12	57605740	57605742	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1091	---	---	15	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:72057256_72057258delGCT	uc001swo.2	-	0	492_494	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_uc010sts.2_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.3_In_Frame_Del_p.S45del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	1027	---	---	10	---					
CEP290	80184	broad.mit.edu	37	12	88487681	88487681	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:88487681delT	uc001tar.3	-	27	3519	c.3175delA	c.(3175-3177)atafs	p.I1059fs	CEP290_uc001taq.3_Frame_Shift_Del_p.I119fs|CEP290_uc001tat.3_Frame_Shift_Del_p.I852fs	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1059					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						AGCATAGTTATTTTTTTTGAA	0.338													---	209	---	---	7	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:111099110_111099112delCTC	uc001trs.1	-	3	328_330	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_uc001trq.1_In_Frame_Del_p.E55del|HVCN1_uc001trt.1_In_Frame_Del_p.E55del|HVCN1_uc010syd.1_In_Frame_Del_p.E35del	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													---	437	---	---	10	---					
CCDC63	160762	broad.mit.edu	37	12	111311658	111311659	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:111311658_111311659insA	uc001trv.1	+	4	577_578	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_uc009zvt.1_Frame_Shift_Ins_p.E43fs|CCDC63_uc010sye.1_Frame_Shift_Ins_p.E88fs|CCDC63_uc001trw.1_Frame_Shift_Ins_p.E43fs	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416													---	488	---	---	13	---					
OAS1	4938	broad.mit.edu	37	12	113345000	113345001	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:113345000_113345001delTG	uc001tuc.3	+	0	262_263	c.156_157delTG	c.(154-159)cctgtgfs	p.P52fs	OAS1_uc010syn.2_Frame_Shift_Del_p.P51fs|OAS1_uc010syo.2_Frame_Shift_Del_p.P51fs|OAS1_uc001tub.3_Frame_Shift_Del_p.P52fs|OAS1_uc001tud.3_Frame_Shift_Del_p.P52fs|OAS1_uc009zwf.3_Frame_Shift_Del_p.P51fs	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	52					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCTACCCTGTGTGTGTGTC	0.530													---	735	---	---	7	---					
NCOR2	9612	broad.mit.edu	37	12	124915255	124915255	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:124915255delG	uc021rga.1	-	8	1078	c.961delC	c.(961-963)cggfs	p.R321fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.R321fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.R321fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.R321fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.R321fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.R321fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R321fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R321fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	321					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCGCCGCCGGGGGTTGTTC	0.637													---	1177	---	---	7	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	479	---	---	13	---					
LATS2	26524	broad.mit.edu	37	13	21562482	21562483	+	In_Frame_Ins	INS	-	GGGGCG	GGGGCG	rs56252009		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:21562482_21562483insGGGGCG	uc009zzs.3	-	3	1801_1802	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_uc001unr.4_In_Frame_Ins_p.479_479P>PAP	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	479					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P473_A480delPAPAPAPA(3)|p.P479_A480insGR(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787													---	33	---	---	12	---					
RNF6	6049	broad.mit.edu	37	13	26788241	26788241	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:26788241delA	uc001uqo.3	-	4	2123	c.1778delT	c.(1777-1779)ttafs	p.L593fs	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Frame_Shift_Del_p.L593fs|RNF6_uc001uqq.3_Frame_Shift_Del_p.L593fs|RNF6_uc010tdk.2_Frame_Shift_Del_p.L237fs	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCATTTAGTAAAAAAAAGTG	0.403													---	957	---	---	9	---					
HSPH1	10808	broad.mit.edu	37	13	31715381	31715382	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:31715381_31715382insT	uc001utl.3	-	12	2008_2009	c.1737_1738insA	c.(1735-1740)aaagttfs	p.K579fs	HSPH1_uc001utj.3_Frame_Shift_Ins_p.K577fs|HSPH1_uc001utk.3_Frame_Shift_Ins_p.K533fs|HSPH1_uc010aaw.3_Frame_Shift_Ins_p.K536fs|HSPH1_uc010tds.2_Frame_Shift_Ins_p.K501fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	577					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTGGTCAACTTTTTTTTCAT	0.376													---	587	---	---	8	---					
DKFZp666K117	0	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:32527507_32527508delGT	uc001utu.2	+	3		c.1265_1266delGT			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TCTGGCCTGAGTGTGTGTGTGT	0.460													---	378	---	---	8	---					
SPG20	23111	broad.mit.edu	37	13	36903501	36903501	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:36903501delT	uc001uvn.3	-	4	1432	c.1162delA	c.(1162-1164)aggfs	p.R388fs	SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Frame_Shift_Del_p.R388fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.R388fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.R388fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.R388fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	388					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTATTTACCCTTTTTCCACGT	0.373													---	1436	---	---	10	---					
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:47243183_47243186delCCTG	uc001vbk.3	+	2	707_710	c.471_474delCCTG	c.(469-474)gccctgfs	p.A157fs	LRCH1_uc010acp.2_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbj.3_Frame_Shift_Del_p.A157fs|LRCH1_uc001vbl.4_Frame_Shift_Del_p.A157fs	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436													---	1403	---	---	8	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:88329794_88329796delCGG	uc001vln.3	+	1	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_uc010tic.1_In_Frame_Del_p.G481del|SLITRK5_uc021rlc.1_In_Frame_Del_p.G722del	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	722						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													---	548	---	---	8	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	691	---	---	13	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	-	-	rs71794845		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:21560753_21560758delGAGGCT	uc001vzr.2	-	2	1119_1124	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_uc001vzs.2_In_Frame_Del_p.QP233del|ZNF219_uc010aik.1_In_Frame_Del_p.QP233del	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(6)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	19	---	---	10	---					
SALL2	6297	broad.mit.edu	37	14	21991334	21991336	+	In_Frame_Del	DEL	GGT	-	-	rs113881459		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:21991334_21991336delGGT	uc001wbe.3	-	1	2808_2810	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_uc010tly.2_In_Frame_Del_p.840_841PP>P|SALL2_uc010tlz.1_In_Frame_Del_p.705_706PP>P|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_In_Frame_Del_p.707_708PP>P|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	842	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGGCTGTCAGGTGGTGGTGGTG	0.571													---	606	---	---	8	---					
SALL2	6297	broad.mit.edu	37	14	21993077	21993079	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:21993077_21993079delGAG	uc001wbe.3	-	1	1065_1067	c.783_785delCTC	c.(781-786)tcctct>tct	p.261_262SS>S	SALL2_uc010tly.2_In_Frame_Del_p.259_260SS>S|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	261	Poly-Ser.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		Tgaagaggaagaggaggaggagg	0.591													---	310	---	---	9	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	795	---	---	40	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:23528502_23528503delTC	uc001wit.4	-	18	4208_4209	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.E567fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.E975fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.E1281fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.E1254fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	393	---	---	14	---					
FAM158A	51016	broad.mit.edu	37	14	24610422	24610422	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:24610422delA	uc001wmi.3	-	1	255	c.92delT	c.(91-93)ttgfs	p.L31fs		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	Homo sapiens family with sequence similarity 158, member A (FAM158A), mRNA.	31										kidney(1)|lung(3)	4						CGCTGGCGCCAAAAACAGCCC	0.657											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	926	---	---	7	---					
FANCM	57697	broad.mit.edu	37	14	45642288	45642289	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:45642288_45642289delCT	uc001wwd.4	+	12	2290_2291	c.2191_2192delCT	c.(2191-2193)ctcfs	p.L731fs	FANCM_uc010anf.3_Frame_Shift_Del_p.L705fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.L267fs|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	731					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTCATCAACTCTCTCTCTCT	0.347								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	584	---	---	12	---					
MIS18BP1	55320	broad.mit.edu	37	14	45711240	45711241	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:45711240_45711241insT	uc001wwf.3	-	3	1598_1599	c.1139_1140insA	c.(1138-1140)aatfs	p.N380fs	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	380					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.N380fs*3(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCCCACCTGATTTTTTTTAAG	0.307													---	587	---	---	9	---					
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:88945628_88945630delTCC	uc001xwv.4	-	12	2476_2478	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_uc010twc.2_In_Frame_Del_p.E511del	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	715	Poly-Glu.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704													---	408	---	---	12	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:93712186_93712188delTGC	uc001ybo.3	-	9	2892_2894	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_uc010aur.3_In_Frame_Del_p.A381del|BTBD7_uc010two.2_In_Frame_Del_p.A676del|BTBD7_uc001ybp.3_In_Frame_Del_p.A505del	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													---	362	---	---	10	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	952	---	---	16	---					
CCNK	8812	broad.mit.edu	37	14	99969244	99969246	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:99969244_99969246delCAG	uc001ygi.4	+	7	1064_1066	c.934_936delCAG	c.(934-936)cagdel	p.Q315del		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	315	Poly-Gln.				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GCAACCAGCCCAGCAGCAGCAGC	0.621													---	876	---	---	7	---					
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													---	494	---	---	9	---					
MTA1	9112	broad.mit.edu	37	14	105932775	105932776	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:105932775_105932776insC	uc001yqx.3	+	16	1824_1825	c.1637_1638insC	c.(1636-1638)cgcfs	p.R546fs	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Frame_Shift_Ins_p.R546fs|MTA1_uc001yrb.3_Frame_Shift_Ins_p.R307fs	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	546					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCCACCCCCGCCCCCCCAAGC	0.688													---	170	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr14:106691799_106691801delACT	uc021ser.1	-	1156		c.25192_25194delAGT								Parts of antibodies, mostly variable regions.																		AGTATATGTAACTACTACTACTA	0.517													---	1956	---	---	13	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:28518115delC	uc001zbj.3	-	7	942	c.836delG	c.(835-837)ggafs	p.G279fs	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	279					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	p.G279V(2)|p.G279fs*25(2)		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)		GGGGATGCTTCCTGGCCCTTT	0.592													---	445	---	---	17	---					
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:40477505_40477506insC	uc001zkx.4	+	6	1103_1104	c.891_892insC	c.(889-894)gcacccfs	p.A297fs	BUB1B_uc010ucl.1_Frame_Shift_Ins_p.A160fs	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				---	1390	---	---	7	---					
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:40631782delC	uc001zlh.4	-	2	310	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													---	788	---	---	8	---					
SPINT1	6692	broad.mit.edu	37	15	41149075	41149077	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:41149075_41149077delCAC	uc001zna.3	+	10	1696_1698	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_uc001znb.3_In_Frame_Del_p.H485del|SPINT1_uc001znc.3_In_Frame_Del_p.H485del|SPINT1_uc010ucs.2_In_Frame_Del_p.H492del	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	501						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTTCCACGGACACCACCACCACC	0.586													---	1827	---	---	9	---					
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:42003383_42003385delCAG	uc010ucy.2	+	7	3101_3103	c.2920_2922delCAG	c.(2920-2922)cagdel	p.Q981del	MGA_uc001zog.1_In_Frame_Del_p.Q981del|MGA_uc010ucz.2_In_Frame_Del_p.Q981del	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	981	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCGGCAGGCACAGCAGCAGCAGC	0.458													---	600	---	---	7	---					
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:64972995_64972997delCAC	uc002ann.3	+	6	4096_4098	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1371	Poly-His.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591													---	1167	---	---	24	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	-	-	rs141710149		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:74888025_74888027delCAG	uc002aye.3	+	8	1797_1799	c.1596_1598delCAG	c.(1594-1599)gccagc>gcc	p.S538del	ARID3B_uc002ayd.3_In_Frame_Del_p.S537del|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	538	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													---	333	---	---	12	---					
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	-	-	rs147271815		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1052	---	---	15	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:1824298_1824300delTGC	uc002cmq.1	+	2	422_424	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_In_Frame_Del_p.141_142LL>L	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	141					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					---	773	---	---	16	---					
ABCA3	21	broad.mit.edu	37	16	2369649	2369651	+	In_Frame_Del	DEL	AGC	-	-	rs145342500		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:2369649_2369651delAGC	uc002cpy.1	-	7	1516_1518	c.804_806delGCT	c.(802-807)ctgctc>ctc	p.268_269LL>L	ABCA3_uc010bsk.1_In_Frame_Del_p.268_269LL>L|ABCA3_uc010bsl.1_In_Frame_Del_p.268_269LL>L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	268					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGTGAAGCTGAGCAGCAGCAGCA	0.611													---	791	---	---	12	---					
TIGD7	91151	broad.mit.edu	37	16	3350472	3350472	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:3350472delT	uc021tcc.1	-	0	143	c.143delA	c.(142-144)aatfs	p.N48fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.N48fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TAACTTCTTATTTTTTTTAAT	0.358													---	746	---	---	10	---					
MKL2	57496	broad.mit.edu	37	16	14334253	14334255	+	In_Frame_Del	DEL	CAG	-	-	rs146244364		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:14334253_14334255delCAG	uc010uza.2	+	9	1146_1148	c.991_993delCAG	c.(991-993)cagdel	p.Q334del	MKL2_uc002dcg.3_In_Frame_Del_p.Q334del|MKL2_uc002dch.3_In_Frame_Del_p.Q323del|MKL2_uc010uzb.2_In_Frame_Del_p.Q283del	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	323					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						CCGCCTGCTCCAGCAGCAGCAGC	0.542													---	793	---	---	7	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:19580800_19580802delTCC	uc002dgn.2	+	2	487_489	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_uc002dgo.2_In_Frame_Del_p.S153del|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_In_Frame_Del_p.S153del	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	64	Ser-rich.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													---	580	---	---	8	---					
DNAH3	55567	broad.mit.edu	37	16	21132130	21132132	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:21132130_21132132delCAG	uc010vbe.2	-	10	1628_1630	c.1628_1630delCTG	c.(1627-1632)gctgat>gat	p.A543del	DNAH3_uc002die.2_Intron	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	543	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTGCCGATCAGCAGCAGCAGC	0.498													---	371	---	---	8	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	451	---	---	16	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:30365550_30365552delCAT	uc002dxr.3	-	1	423_425	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_uc002dxs.3_In_Frame_Del_p.D57del	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	57					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													---	2270	---	---	15	---					
SALL1	6299	broad.mit.edu	37	16	51175413	51175415	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:51175413_51175415delCTG	uc021tif.1	-	1	749_751	c.427_429delCAG	c.(427-429)cagdel	p.Q143del	SALL1_uc021tid.1_In_Frame_Del_p.Q143del|SALL1_uc021tie.1_In_Frame_Del_p.Q240del|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	240					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGTGGATCTGCTGCTGCTGC	0.562													---	876	---	---	7	---					
FHOD1	29109	broad.mit.edu	37	16	67267852	67267852	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:67267852delG	uc002esl.3	-	12	1866	c.1754delC	c.(1753-1755)cctfs	p.P585fs	FHOD1_uc010ced.3_Frame_Shift_Del_p.P392fs|FHOD1_uc010vjh.1_Frame_Shift_Del_p.P245fs	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	585	FH1.|Poly-Pro.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.P585fs*43(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAGTGGGGGAGGGGGGGGTAC	0.622													---	366	---	---	9	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:69782978_69782980delTCC	uc002exs.3	-	5	583_585	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													---	735	---	---	39	---					
ZFHX3	463	broad.mit.edu	37	16	72822034	72822036	+	In_Frame_Del	DEL	GCT	-	-	rs149197237		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:72822034_72822036delGCT	uc002fck.3	-	9	10812_10814	c.10139_10141delAGC	c.(10138-10143)cagcgg>cgg	p.Q3380del	ZFHX3_uc002fcl.3_In_Frame_Del_p.Q2466del	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3380	Poly-Gln.		Missing.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgtagttgccgctgctgctgctg	0.621													---	296	---	---	7	---					
NPIPL2	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:74425400_74425402delCAA	uc010vmt.1	+	5	572_574	c.571_573delCAA	c.(571-573)caadel	p.Q192del				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	253										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCTCCAACTCAACAACATTCTA	0.517													---	984	---	---	10	---					
USP10	9100	broad.mit.edu	37	16	84797847	84797847	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:84797847delG	uc010voe.2	+	10	2073	c.1822delG	c.(1822-1824)ggcfs	p.G608fs	USP10_uc002fii.3_Frame_Shift_Del_p.G604fs|USP10_uc010vof.2_Frame_Shift_Del_p.G166fs|USP10_uc002fij.3_Frame_Shift_Del_p.G130fs	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	604					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCCAATCACCGGCATTTTTGG	0.493													---	1090	---	---	7	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													---	1926	---	---	24	---					
CHD3	1107	broad.mit.edu	37	17	7796808	7796809	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:7796808_7796809insC	uc002gjd.2	+	4	893_894	c.891_892insC	c.(889-894)ggacccfs	p.G297fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.G238fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.G238fs|CHD3_uc002gjg.1_Frame_Shift_Ins_p.G70fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	238					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCTCCGGACCCCCCGCCCT	0.639													---	301	---	---	9	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:7801857_7801859delAAG	uc002gjd.2	+	12	2274_2276	c.2272_2274delAAG	c.(2272-2274)aagdel	p.K762del	CHD3_uc002gje.2_In_Frame_Del_p.K703del|CHD3_uc002gjf.2_In_Frame_Del_p.K703del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	703	Helicase ATP-binding.				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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													---	385	---	---	14	---					
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:8370271_8370273delCTC	uc002glj.3	+	8	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_uc002gli.3_3'UTR|NDEL1_uc002glk.1_Non-coding_Transcript	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	327	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													---	912	---	---	8	---					
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:8397095_8397097delCCT	uc002glm.3	-	31	4259_4261	c.4163_4165delAGG	c.(4162-4167)gaggcc>gcc	p.E1388del	MYH10_uc002gll.3_In_Frame_Del_p.E1357del|MYH10_uc010cnx.3_In_Frame_Del_p.E1366del	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1357					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	p.E1388G(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596													---	412	---	---	15	---					
CCDC144NL	339184	broad.mit.edu	37	17	20768756	20768756	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:20768756delT	uc002gyf.3	-	3	758	c.638delA	c.(637-639)aagfs	p.K213fs	AK057473_uc002gyg.1_5'Flank|AK057473_uc002gyh.1_5'Flank	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	213										large_intestine(3)|lung(3)|skin(1)	7						CACATGATTCTTCCCCTTTCT	0.368													---	472	---	---	7	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				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	p.E42D(1)		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)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	337	---	---	9	---					
ERAL1	26284	broad.mit.edu	37	17	27182148	27182148	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:27182148delT	uc002hcy.1	+	0	106	c.96delT	c.(94-96)cctfs	p.P32fs	ERAL1_uc002hcx.1_Frame_Shift_Del_p.P32fs|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	32					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding	p.P32H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGGTGATCCCTTTTTCCTCAC	0.627													---	623	---	---	7	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	561	---	---	8	---					
NSRP1	84081	broad.mit.edu	37	17	28505166	28505167	+	Frame_Shift_Ins	INS	-	A	A	rs143842750	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:28505166_28505167insA	uc002heu.3	+	3	277_278	c.249_250insA	c.(247-252)cagaaafs	p.Q83fs	NSRP1_uc002hev.3_Frame_Shift_Ins_p.Q29fs|NSRP1_uc010wbl.2_Frame_Shift_Ins_p.Q29fs|NSRP1_uc010wbm.2_Frame_Shift_Ins_p.Q29fs|NSRP1_uc002hex.3_Frame_Shift_Ins_p.Q29fs	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	83					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ATGAAATGCAGAAAAAAAAGGA	0.332													---	422	---	---	7	---					
WNK4	65266	broad.mit.edu	37	17	40939528	40939528	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:40939528delT	uc002ibj.3	+	6	1777	c.1709delT	c.(1708-1710)cttfs	p.L570fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.L234fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.L342fs|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	570					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCCCTTCCTTTTCCGCCAC	0.617													---	1783	---	---	7	---					
BRCA1	672	broad.mit.edu	37	17	41246532	41246532	+	Frame_Shift_Del	DEL	T	-	-	rs80357911		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:41246532delT	uc002icq.3	-	9	1248	c.1016delA	c.(1015-1017)aagfs	p.K339fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.K268fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.K292fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.K339fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.K339fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.K170fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.K292fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.K313fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.K43fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATCTACCTTTTTTTCTGT	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			---	1485	---	---	9	---					
TMEM106A	113277	broad.mit.edu	37	17	41367865	41367865	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:41367865delT	uc002idn.1	+	4	571	c.334delT	c.(334-336)tttfs	p.F112fs	TMEM106A_uc010why.1_Frame_Shift_Del_p.F64fs|TMEM106A_uc010cze.1_Frame_Shift_Del_p.F112fs|TMEM106A_uc010whz.1_Frame_Shift_Del_p.F112fs	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	112						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CTTCATCGTCTTTTTCCTGTT	0.542													---	2420	---	---	7	---					
MPP3	4356	broad.mit.edu	37	17	41888206	41888206	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:41888206delT	uc002ieh.3	-	15	1763	c.1502delA	c.(1501-1503)aacfs	p.N501fs	MPP3_uc002iei.4_Frame_Shift_Del_p.N476fs|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	476	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACAAACTTTGTTTTTGGCCAT	0.443													---	1533	---	---	7	---					
HOXB2	3212	broad.mit.edu	37	17	46620492	46620492	+	Frame_Shift_Del	DEL	A	-	-	rs113828741	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:46620492delA	uc002inm.3	-	1	1129	c.1009delT	c.(1009-1011)tccfs	p.S337fs		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	337					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCTTCCTCGGAAAAAGGGACC	0.597													---	1217	---	---	8	---					
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:49157025delT	uc002itc.3	-	1	553	c.344delA	c.(343-345)aagfs	p.K115fs	SPAG9_uc002itd.3_Frame_Shift_Del_p.K115fs|SPAG9_uc002itb.3_Frame_Shift_Del_p.K115fs|SPAG9_uc002itf.3_5'UTR	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	115					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313													---	709	---	---	9	---					
KCNH6	81033	broad.mit.edu	37	17	61620959	61620959	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:61620959delC	uc002jay.3	+	9	2251	c.2171delC	c.(2170-2172)tccfs	p.S724fs	KCNH6_uc010wpl.2_Frame_Shift_Del_p.S601fs|KCNH6_uc010wpm.2_Frame_Shift_Del_p.S724fs|KCNH6_uc002jaz.1_Frame_Shift_Del_p.S671fs	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTCCACTCATCCCCCCGACAG	0.597													---	726	---	---	7	---					
FTSJ3	117246	broad.mit.edu	37	17	61897291	61897291	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:61897291delT	uc002jbz.3	-	19	2493	c.2415delA	c.(2413-2415)aaafs	p.K805fs	FTSJ3_uc002jca.3_Frame_Shift_Del_p.K805fs	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	805					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCCCACACCTTTTTTGGCTA	0.532													---	904	---	---	7	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	170	---	---	12	---					
ITGB4	3691	broad.mit.edu	37	17	73732157	73732158	+	Frame_Shift_Del	DEL	GT	-	-	rs121912463		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:73732157_73732158delGT	uc002jpg.3	+	13	1870_1871	c.1683_1684delGT	c.(1681-1686)cagtgtfs	p.Q561fs	ITGB4_uc002jph.3_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgo.3_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpi.4_Frame_Shift_Del_p.Q561fs|ITGB4_uc010dgp.1_Frame_Shift_Del_p.Q561fs|ITGB4_uc002jpj.3_Frame_Shift_Del_p.Q561fs|ITGB4_uc010wsh.1_Frame_Shift_Del_p.Q116fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	561	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)			CCATGGGCCAGTGTGTGTGTGA	0.604													---	1305	---	---	7	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	372	---	---	22	---					
FAM210A	125228	broad.mit.edu	37	18	13681751	13681751	+	Frame_Shift_Del	DEL	T	-	-	rs143162930		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	1034	---	---	7	---					
HAUS1	115106	broad.mit.edu	37	18	43685174	43685174	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:43685174delA	uc002lbu.3	+	1	125	c.45delA	c.(43-45)ttafs	p.L15fs	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	15					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGCGTGGTTAAAAAAAATAT	0.393													---	328	---	---	7	---					
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	344	---	---	14	---					
WDR7	23335	broad.mit.edu	37	18	54385295	54385295	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:54385295delT	uc002lgk.1	+	12	1890	c.1679delT	c.(1678-1680)cttfs	p.L560fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.L560fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	560										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTCGTCACCTTTTTCCTATT	0.453													---	880	---	---	7	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:77894260_77894261insC	uc002lnw.3	+	3	1419_1420	c.964_965insC	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													---	682	---	---	13	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:1037646delC	uc002lqu.3	+	6	1040	c.677delC	c.(676-678)accfs	p.T226fs	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.2_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.2_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632													---	1310	---	---	9	---					
SAFB2	9667	broad.mit.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:5587282delG	uc002mcd.3	-	20	3046	c.2834delC	c.(2833-2835)ccgfs	p.P945fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	945	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.P945fs*>9(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657													---	223	---	---	7	---					
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:6222272_6222274delAGG	uc002mek.3	-	5	1132_1134	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	323	Poly-Ser.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.650			T	MLL	AL								---	369	---	---	9	---					
XAB2	56949	broad.mit.edu	37	19	7684652	7684657	+	In_Frame_Del	DEL	CTCGTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:7684652_7684657delCTCGTC	uc002mgx.3	-	17	2508_2513	c.2482_2487delGACGAG	c.(2482-2487)gacgagdel	p.DE828del		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	828					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCAGGTCCATCTCGTCCTCGTCCTCG	0.699								Direct reversal of damage;Nucleotide excision repair (NER)					---	1806	---	---	8	---					
SLC44A2	57153	broad.mit.edu	37	19	10741961	10741961	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:10741961delA	uc002mpf.3	+	5	480	c.341delA	c.(340-342)gaafs	p.E114fs	SLC44A2_uc002mpe.4_Frame_Shift_Del_p.E112fs	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	114					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATCTGCGTGGAAAAATGCCCC	0.542													---	1383	---	---	8	---					
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:16908642delT	uc002neu.4	+	15	3826	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_uc002net.4_Frame_Shift_Del_p.V1000fs|NWD1_uc002nev.4_Frame_Shift_Del_p.V929fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.V1000fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													---	2156	---	---	8	---					
CRTC1	23373	broad.mit.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:18887993delC	uc010ebv.3	+	14	1842	c.1754delC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Del_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Del_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637													---	704	---	---	11	---					
NUDT19	390916	broad.mit.edu	37	19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:33200189_33200190delCT	uc010edf.3	+	1	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.A271fs		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	271						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.450													---	1341	---	---	7	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:36583666_36583668delGCA	uc002odd.2	+	18	2377_2379	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_uc002odc.2_In_Frame_Del_p.Q766del	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	766					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													---	1120	---	---	9	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:38948159_38948160delTG	uc002oit.3	+	16	1944_1945	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Del_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													---	1749	---	---	12	---					
RYR1	6261	broad.mit.edu	37	19	39019604	39019606	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:39019604_39019606delAGG	uc002oit.3	+	75	11178_11180	c.11048_11050delAGG	c.(11047-11052)caggag>cag	p.E3689del	RYR1_uc002oiu.3_In_Frame_Del_p.E3684del|RYR1_uc002oiv.1_In_Frame_Del_p.E604del|RYR1_uc010xuf.1_In_Frame_Del_p.E609del	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3689					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGggagcaggaggaggagga	0.576													---	119	---	---	7	---					
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:39972604delA	uc002olu.1	+	1	632	c.499delA	c.(499-501)aaafs	p.K167fs	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	64	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607													---	1096	---	---	8	---					
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:40929409_40929411delCTC	uc002ont.4	-	1	202_204	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													---	641	---	---	14	---					
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:42753149_42753151delGAA	uc002ote.4	-	3	1271_1273	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_uc002otd.4_In_Frame_Del_p.102_103SS>S	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	371	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.680													---	754	---	---	8	---					
KLC3	147700	broad.mit.edu	37	19	45850756	45850758	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:45850756_45850758delGAG	uc002pbg.1	+	2	683_685	c.583_585delGAG	c.(583-585)gagdel	p.E198del	KLC3_uc002pbf.1_In_Frame_Del_p.E184del|KLC3_uc010ejy.1_In_Frame_Del_p.E183del	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	184						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTTCCCCAGCGAGGAGGAGGAGA	0.645													---	555	---	---	7	---					
TEAD2	8463	broad.mit.edu	37	19	49850511	49850511	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:49850511delT	uc002pnh.3	-	9	963	c.857delA	c.(856-858)aagfs	p.K286fs	TEAD2_uc002png.3_Frame_Shift_Del_p.K285fs|TEAD2_uc002pni.3_Frame_Shift_Del_p.K285fs|TEAD2_uc002pnj.3_Frame_Shift_Del_p.K282fs|TEAD2_uc010yao.2_Frame_Shift_Del_p.K154fs|TEAD2_uc010emw.3_Frame_Shift_Del_p.K285fs	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	282	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R286R(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGGCCACCCTTTTTCTCAGG	0.572													---	1799	---	---	9	---					
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:49978960_49978962delCTG	uc002pnu.3	+	2	156_158	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_uc002pnw.3_5'UTR|FLT3LG_uc010yau.2_In_Frame_Del_p.L20del|FLT3LG_uc002pnv.3_5'UTR|FLT3LG_uc002pnx.3_In_Frame_Del_p.L20del|FLT3LG_uc010yav.2_5'UTR	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													---	646	---	---	18	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	512	---	---	24	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:5903283_5903285delGAG	uc002wmg.3	+	3	799_801	c.493_495delGAG	c.(493-495)gagdel	p.E169del	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													---	322	---	---	9	---					
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:17581679_17581680insT	uc002wpr.3	+	1	555_556	c.300_301insT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													---	478	---	---	10	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:24524183_24524185delGGA	uc002wtw.1	+	1	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	155	Poly-Glu.				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													---	1303	---	---	10	---					
PYGB	5834	broad.mit.edu	37	20	25274864	25274864	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:25274864delT	uc002wup.3	+	17	2357	c.2248delT	c.(2248-2250)tttfs	p.F750fs		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	750					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCAGTGGCTTTTTTTCTCC	0.592													---	628	---	---	8	---					
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	-	-	rs111939959		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:29628310_29628312delAGG	uc010ztl.1	+	2	254_256	c.222_224delAGG	c.(220-225)gcagga>gca	p.G75del	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_In_Frame_Del_p.G27del					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													---	604	---	---	7	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	349	---	---	7	---					
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:39990829delC	uc002xjy.1	-	3	1604	c.1380delG	c.(1378-1380)gggfs	p.G460fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	460						proteinaceous extracellular matrix		p.W461fs*31(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCACTCCCCACCCCCCCATGT	0.637													---	980	---	---	7	---					
NFATC2	4773	broad.mit.edu	37	20	50092010	50092010	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:50092010delT	uc002xwd.3	-	3	1740	c.1520delA	c.(1519-1521)aacfs	p.N507fs	NFATC2_uc002xwc.3_Frame_Shift_Del_p.N507fs|NFATC2_uc010zyv.2_Frame_Shift_Del_p.N288fs|NFATC2_uc010zyw.2_Frame_Shift_Del_p.N288fs|NFATC2_uc002xwe.3_Frame_Shift_Del_p.N487fs|NFATC2_uc010zyx.2_Frame_Shift_Del_p.N487fs|NFATC2_uc010zyy.2_Frame_Shift_Del_p.N288fs|NFATC2_uc010zyz.2_Frame_Shift_Del_p.N288fs	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	507	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K506Q(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTCATGTTGTTTTTGGGCTC	0.572													---	1068	---	---	8	---					
C20orf85	128602	broad.mit.edu	37	20	56735727	56735727	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:56735727delC	uc002xyv.3	+	3	301	c.263delC	c.(262-264)tccfs	p.S88fs		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GTCTTTCCATCCCCCCCAGTC	0.582													---	351	---	---	12	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:61833650_61833652delCCT	uc002yeh.3	-	3	1934_1936	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_uc011aaq.2_In_Frame_Del_p.E497del	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													---	864	---	---	19	---					
YTHDF1	54915	broad.mit.edu	37	20	61834519	61834519	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:61834519delC	uc002yeh.3	-	3	1067	c.773delG	c.(772-774)ggtfs	p.G258fs	YTHDF1_uc011aaq.2_Frame_Shift_Del_p.G208fs	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	258	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGCAGCCCACCCCCCATGAC	0.582													---	1554	---	---	8	---					
RTEL1	51750	broad.mit.edu	37	20	62292822	62292824	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr20:62292822_62292824delGCT	uc021wge.1	+	1	444_446	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.A96del|RTEL1_uc011abd.2_In_Frame_Del_p.A96del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_In_Frame_Del_p.A96del|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	96	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGGGCAACGCTGCTGCTGCTG	0.645													---	269	---	---	10	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	168	---	---	11	---					
SCAF4	57466	broad.mit.edu	37	21	33043971	33043972	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:33043971_33043972delTC	uc002ypd.2	-	19	3610_3611	c.3184_3185delGA	c.(3184-3186)gatfs	p.D1062fs	SCAF4_uc002ype.2_Frame_Shift_Del_p.D1040fs|SCAF4_uc010glu.2_Frame_Shift_Del_p.D1047fs	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	1062						nucleus	RNA binding|nucleotide binding	p.D1062Y(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATCTCTAGAATCTCTCTCTCTG	0.525													---	1083	---	---	7	---					
PWP2	5822	broad.mit.edu	37	21	45535692	45535694	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:45535692_45535694delGAG	uc002zeb.3	+	6	817_819	c.727_729delGAG	c.(727-729)gagdel	p.E247del		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	247	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ggaggaggaagaggaggaggagg	0.640													---	325	---	---	7	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:20918793_20918795delCAG	uc002zsp.3	+	5	588_590	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_uc002zsn.1_In_Frame_Del_p.Q93del|MED15_uc002zso.2_In_Frame_Del_p.Q103del|MED15_uc002zsq.3_In_Frame_Del_p.Q174del|MED15_uc010gso.3_In_Frame_Del_p.Q174del|MED15_uc002zsr.3_In_Frame_Del_p.Q148del|MED15_uc011ahs.2_In_Frame_Del_p.Q148del|MED15_uc011aht.1_In_Frame_Del_p.Q148del|MED15_uc002zss.3_In_Frame_Del_p.Q93del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	220	---	---	8	---					
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:20918916_20918918delCAG	uc002zsp.3	+	5	711_713	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_uc002zsn.1_In_Frame_Del_p.Q137del|MED15_uc002zso.2_In_Frame_Del_p.Q147del|MED15_uc002zsq.3_In_Frame_Del_p.Q218del|MED15_uc010gso.3_In_Frame_Del_p.Q218del|MED15_uc002zsr.3_In_Frame_Del_p.Q192del|MED15_uc011ahs.2_In_Frame_Del_p.Q192del|MED15_uc011aht.1_In_Frame_Del_p.Q192del|MED15_uc002zss.3_In_Frame_Del_p.Q137del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	182	---	---	15	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:29445819_29445821delCAG	uc003aeg.3	+	7	1650_1652	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_uc021wnq.1_In_Frame_Del_p.S457del	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	557						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													---	327	---	---	7	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				---	676	---	---	8	---					
SH3BP1	23616	broad.mit.edu	37	22	38039752	38039754	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:38039752_38039754delAGG	uc003ati.3	+	6	1313_1315	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_In_Frame_Del_p.E197del|SH3BP1_uc003ath.1_In_Frame_Del_p.E197del|SH3BP1_uc003atj.1_In_Frame_Del_p.E133del|SH3BP1_uc003atk.1_In_Frame_Del_p.E111del|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	197	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	667	---	---	9	---					
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:42262949_42262951delGCA	uc003bbi.3	+	1	372_374	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	74	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567													---	657	---	---	18	---					
TCF20	6942	broad.mit.edu	37	22	42610362	42610364	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:42610362_42610364delTGC	uc003bcj.1	-	0	1082_1084	c.948_950delGCA	c.(946-951)cagcaa>caa	p.316_317QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.316_317QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	316	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ttgctgcggttgctgctgctgct	0.502													---	669	---	---	8	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	650	---	---	28	---					
CLCN4	1183	broad.mit.edu	37	X	10176124	10176124	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:10176124delT	uc004csy.4	+	8	1313	c.883delT	c.(883-885)tttfs	p.F295fs	CLCN4_uc011mid.2_Frame_Shift_Del_p.F201fs	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	295						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGGAGGTCATTTTTCGCAGC	0.498													---	2131	---	---	7	---					
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:21674920_21674922delCTC	uc004czz.1	-	0	1527_1529	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.650													---	108	---	---	7	---					
HUWE1	10075	broad.mit.edu	37	X	53586347	53586347	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:53586347delA	uc004dsp.3	-	56	8285	c.7883delT	c.(7882-7884)ttcfs	p.F2628fs	HUWE1_uc004dsn.3_Frame_Shift_Del_p.F1452fs|MIRLET7F2_uc004dss.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2628					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGATCATGGAAAAAGTCATC	0.532													---	894	---	---	7	---					
FAM155B	27112	broad.mit.edu	37	X	68749484	68749486	+	In_Frame_Del	DEL	GAA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:68749484_68749486delGAA	uc004dxk.3	+	2	1152_1154	c.1104_1106delGAA	c.(1102-1107)gcgaag>gcg	p.K372del		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	373	Poly-Lys.					integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCTGTGAGGCGAAGAAGAAGAAG	0.532													---	331	---	---	8	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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						---	383	---	---	12	---					
NAP1L2	4674	broad.mit.edu	37	X	72434104	72434104	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:72434104delT	uc004ebi.3	-	0	607	c.225delA	c.(223-225)aaafs	p.K75fs		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	75					nucleosome assembly	chromatin assembly complex		p.K74E(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TATCGCCACCTTTTTTCCCAT	0.498													---	928	---	---	9	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	842	---	---	12	---					
ATRX	546	broad.mit.edu	37	X	76778785	76778787	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:76778785_76778787delTCT	uc004ecp.4	-	30	7024_7026	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_uc004ecq.4_In_Frame_Del_p.2226_2227EE>E|ATRX_uc004eco.4_In_Frame_Del_p.2049_2050EE>E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2264	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCAGTCAACTCTTCTTCTTCTT	0.369			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	1632	---	---	12	---					
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:76907782_76907784delTCC	uc004ecp.4	-	14	4609_4611	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_uc004ecq.4_In_Frame_Del_p.1421_1422EE>E|ATRX_uc004eco.4_In_Frame_Del_p.1244_1245EE>E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1459	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	771	---	---	20	---					
RPL36A-HNRNPH2	100529097	broad.mit.edu	37	X	100646805	100646805	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:100646805delA	uc022cag.1	+	2	326	c.280delA	c.(280-282)aaafs	p.K94fs	RPL36A-HNRNPH2_uc022cah.1_Frame_Shift_Del_p.K94fs|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Frame_Shift_Del_p.K94fs|RPL36A-HNRNPH2_uc004ehk.3_Frame_Shift_Del_p.K58fs	NM_001199973	NP_001186902			Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.																		GATTTTCCGGAAAAAGGTGAG	0.418													---	923	---	---	8	---					
ARMCX3	51566	broad.mit.edu	37	X	100880152	100880154	+	In_Frame_Del	DEL	TGA	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:100880152_100880154delTGA	uc022cap.1	+	0	183_185	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_uc004ehz.1_In_Frame_Del_p.D66del|ARMCX3_uc004eia.1_In_Frame_Del_p.D66del|ARMCX3_uc004eib.1_In_Frame_Del_p.D66del|ARMCX3_uc004eic.1_In_Frame_Del_p.D66del	NM_177948	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA.	66						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517													---	1559	---	---	23	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	755	---	---	17	---					
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:142803692delT	uc004fbz.3	-	0	825	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													---	1256	---	---	22	---					
HMGB3	3149	broad.mit.edu	37	X	150156358	150156360	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	435	---	---	7	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:151303906_151303908delAGG	uc022cgz.1	-	0	185_187	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_In_Frame_Del_p.S62del|MAGEA10_uc004ffm.2_In_Frame_Del_p.S62del|MAGEA10_uc004ffl.3_In_Frame_Del_p.S62del	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													---	868	---	---	29	---					
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	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													---	239	---	---	17	---					
ATP2B3	492	broad.mit.edu	37	X	152845611	152845611	+	Frame_Shift_Del	DEL	C	-	-	rs149428057	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:152845611delC	uc004fht.1	+	19	3644	c.3518delC	c.(3517-3519)gccfs	p.A1173fs	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Frame_Shift_Del_p.A310fs|ATP2B3_uc004fhu.1_Frame_Shift_Del_p.A125fs	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1173					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.P1173P(1)		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)					CGCCTCCGGGCCCCCCCGCCC	0.587													---	1486	---	---	8	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	-	-			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrY:10037863delC	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													---	107	---	---	9	---					
