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
DCHS1	8642	broad.mit.edu	37	11	6662161	6662161	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:6662161A>C	uc001mem.1	-	1	1085	c.684T>G	c.(682-684)taT>taG	p.Y228*		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACCATCATAGGCCTCCA	0.602000														396			79		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390039	158390039	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:158390039G>A	uc010pii.2	-	0	618	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATAGCCAGGACCAATGTAC	0.443000														261			28		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45473306	45473306	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:45473306T>C	uc001wvw.3	+	3	2590	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	FAM179B_uc001wvv.3_Missense_Mutation_p.F794S|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Missense_Mutation_p.F794S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	794							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAGCAAACATTTGGTAGTCAA	0.363000														170			32		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17760372	17760372	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:17760372G>A	uc021uqk.1	-	12	1506	c.1464C>T	c.(1462-1464)atC>atT	p.I488I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	488					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567000														440			58		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54691118	54691118	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54691118G>A	uc002qdq.3	-	4	524	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MBOAT7_uc010erg.3_5'UTR|MBOAT7_uc010yem.2_Silent_p.F68F|MBOAT7_uc002qdr.3_Silent_p.F86F|MBOAT7_uc002qds.3_Intron|MBOAT7_uc010yen.2_Intron|MBOAT7_uc002qdt.4_Silent_p.F86F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	86					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGCTCGGAAGAACAGGA	0.642000														55			10		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20020055	20020055	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:20020055T>A	uc001vwc.3	-	0	218	c.166A>T	c.(166-168)Aca>Tca	p.T56S	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	56								p.T56K(1)		endometrium(4)|kidney(1)|lung(4)	9						CTCCTGAGTGTCTTCATAGCA	0.617000														406			23		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851593	43851593	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:43851593G>C	uc010ggz.3	+	1	1377	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D	SEMG2_uc002xnk.3_Missense_Mutation_p.E440D|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACTGAAGAGAAAATACATG	0.383000														345			45		0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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														42			5		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														47			5		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	G	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000														224			13		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									221			12		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57869582	57869582	+	Missense_Mutation	SNP	T	C	C	rs2277315	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:57869582T>C	uc001sod.3	-	12	1751	c.1558A>G	c.(1558-1560)Acc>Gcc	p.T520A	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Intron|ARHGAP9_uc001soa.3_Missense_Mutation_p.T119A|ARHGAP9_uc001sob.3_Intron|ARHGAP9_uc001soc.3_Intron|ARHGAP9_uc001soe.1_Intron	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	449					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCCGGCCGGTCGGAGCCTCC	0.687000														93			5		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287249	53287249	+	Missense_Mutation	SNP	G	A	A	rs151077871		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:53287249G>A	uc001cuj.3	+	13	2378	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	ZYG11B_uc010onj.2_Missense_Mutation_p.R649H|ZYG11B_uc009vzh.3_Missense_Mutation_p.R150H	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	728							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CACATTGTGCGCCATGGGAGG	0.418000														208			33		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:7578206T>C	uc002gim.2	-	5	837	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_uc002gig.1_Missense_Mutation_p.S215G|TP53_uc002gih.3_Missense_Mutation_p.S215G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S83G|TP53_uc010cnf.1_Missense_Mutation_p.S83G|TP53_uc002gii.1_Missense_Mutation_p.S83G|TP53_uc010cni.1_Missense_Mutation_p.S215G|TP53_uc010cnh.1_Missense_Mutation_p.S215G|TP53_uc002gij.2_Missense_Mutation_p.S215G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.S122G|TP53_uc002gio.2_Missense_Mutation_p.S83G|TP53_uc010vug.2_Missense_Mutation_p.S176G|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H214R(53)|p.S215R(19)|p.S215I(16)|p.S215G(12)|p.S215C(10)|p.0?(8)|p.S215N(7)|p.H214Y(5)|p.?(5)|p.S215fs*32(5)|p.H214D(4)|p.H214Q(4)|p.H214fs*33(4)|p.H214fs*5(4)|p.S215T(3)|p.H214fs*7(2)|p.S215fs*27(2)|p.S215del(2)|p.H214_S215insX(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*29(2)|p.T211_S215delTFRHS(2)|p.S215S(2)|p.S215fs*31(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.H214H(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.S215_V218>R(1)|p.R213fs*32(1)|p.S215_V218>M(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCACCACACTATGTCGAAAA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				169			27		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408064	130408064	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:130408064G>A	uc004ewe.4	-	18	4166	c.3883C>T	c.(3883-3885)Cga>Tga	p.R1295*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.R1290*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R1281*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R1270*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1290					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S1294*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACCTGGTTCGCAGTCGAGGC	0.502000														768			105		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277769	152277769	+	Missense_Mutation	SNP	A	C	C	rs143183339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152277769A>C	uc001ezu.1	-	2	9629	c.9593T>G	c.(9592-9594)gTc>gGc	p.V3198G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGACTGCCTGTGA	0.552000									Ichthyosis					548			81		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500841	66500841	+	RNA	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:66500841C>T	uc004aed.1	+	2		c.934C>T								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CCACCTGGTGCCCAGGGCTCC	0.632000														171			10		0	0	1	0	0
GPR77	27202	broad.mit.edu	37	19	47844495	47844495	+	Missense_Mutation	SNP	C	T	T	rs149871591	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:47844495C>T	uc002pgk.1	+	1	510	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	GPR77_uc010ela.1_Missense_Mutation_p.R147W|GPR77_uc021uwn.1_Missense_Mutation_p.R147W	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	147					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TACGGTTCAGCGGGCGTGCGG	0.672000														406			55		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70268081G>A	uc010cfp.1	-	2		c.334C>T								Homo sapiens cDNA, FLJ98908.																		TCTTACTGTTGGCTAAAAGGC	0.373000														50			4		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004926	42004926	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004926A>C	uc011kbh.2	-	14	3836	c.3745T>G	c.(3745-3747)Tgt>Ggt	p.C1249G	GLI3_uc011kbg.2_Missense_Mutation_p.C1190G	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGCCTTACAGGGCTGTTCA	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					360			51		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8205432	8205432	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8205432G>C	uc001qtu.3	+	10	2796	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	571					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTCGACTGGGACTTGATCAC	0.552000														88			5		0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000														43			4		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70726807	70726807	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70726807G>A	uc002ezm.3	-	17	2361	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	VAC14_uc010cfw.3_Silent_p.L467L|VAC14_uc002ezn.3_Silent_p.L266L|VAC14_uc002ezl.3_Silent_p.L133L|VAC14_uc002ezo.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	701					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGAGCATGAGCAGGCCGT	0.662000														63			9		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	G	G	rs121913530		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:25398285C>G	uc001rgp.1	-	1	215	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_uc001rgq.1_Missense_Mutation_p.G12R|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8564)|p.G12C(5976)|p.G12V(5758)|p.G12S(2576)|p.G12R(1579)|p.G12A(1401)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G10_A11insG(5)|p.A11_G12insGA(4)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.G12E(3)|p.A11P(2)|p.G12fs*3(1)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				102			11		0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000														220			9		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:229730411C>T	uc001htq.3	-	4	1569	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	468					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607000														586			42		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004927	42004927	+	Silent	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004927G>A	uc011kbh.2	-	14	3835	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	GLI3_uc011kbg.2_Silent_p.P1189P	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1248					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCCTTACAGGGCTGTTCAT	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					362			52		0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30983324	30983324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30983324C>T	uc003aij.2	-	3	424	c.317G>A	c.(316-318)cGt>cAt	p.R106H	PES1_uc003aik.2_Missense_Mutation_p.R106H|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	106	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTCCTTTAAACGCTCTACAGT	0.498000														267			49		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8130859	8130859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:8130859G>A	uc002mjf.3	-	62	8391	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	FBN3_uc002mje.3_Nonsense_Mutation_p.Q588*	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2792						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCTGGCTGCCCCTCTGGC	0.687000														238			34		0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246704361	246704361	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:246704361A>T	uc001ibn.3	-	7	1288	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA.	388					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.W387S(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCATCATACAGCCATTTATA	0.373000														253			38		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38572533	38572533	+	Splice_Site	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:38572533G>A	uc002yvz.3	+	45	5956	c.5851_splice	c.e45-1	p.A1951_splice	TTC3_uc002ywa.3_Splice_Site_p.A1951_splice|TTC3_uc002ywb.3_Splice_Site_p.A1951_splice|TTC3_uc010gnf.3_Splice_Site_p.A1716_splice|TTC3_uc002ywc.3_Splice_Site_p.A1641_splice	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1951					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCCACAGGCACTGGGTGC	0.428000														153			15		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553582	19553582	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:19553582A>T	uc001vuz.1	+	0	218	c.166A>T	c.(166-168)Aca>Tca	p.T56S	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	56										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTATGAAGACACTCAGGAG	0.617000														819			30		0	0	1	0	0
C7orf45	136263	broad.mit.edu	37	7	129856144	129856144	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:129856144G>T	uc003vpp.3	+	2	616	c.569G>T	c.(568-570)aGt>aTt	p.S190I		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	190						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					AATCTGGGAAGTTACCAAATG	0.507000														499			54		6.03219e-31	6.51094e-31	1	1	0
SACS	26278	broad.mit.edu	37	13	23906194	23906194	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:23906194G>A	uc001uon.2	-	9	12410	c.11821C>T	c.(11821-11823)Caa>Taa	p.Q3941*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q3794*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3941					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTAACATTTGCACACCAATA	0.403000														462			60		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117444	117444	+	RNA	SNP	G	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrGL000205.1:117444G>T	uc002kgk.4	+	0		c.822G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CCCTCACCAGGGAAGACCTGG	0.557000														320			16		9.86323e-18	1.04797e-17	1	1	0
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:62212794C>T	uc003xuh.3	+	1	732	c.408C>T	c.(406-408)taC>taT	p.Y136Y	CLVS1_uc003xug.2_Silent_p.Y136Y|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443000														221			32		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060133	35060133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:35060133G>A	uc002xff.3	+	2	448	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	DLGAP4_uc010zvp.2_Missense_Mutation_p.G5S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	5					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAAAGGCCTCGGTGACAGCCG	0.692000														209			32		0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	C	C	rs1062001		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000														72			5		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682767	30682767	+	Missense_Mutation	SNP	T	C	C	rs9608865	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30682767T>C	uc010gvr.3	-	3	735	c.337A>G	c.(337-339)Act>Gct	p.T113A	TBC1D10A_uc003ahd.3_Intron|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvs.2_3'UTR			Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity	p.P113P(1)|p.P113L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGGACAGAGTGTAGGGAACA	0.542000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		116			5		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14724956	14724956	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:14724956C>T	uc003ssz.3	-	8	930	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	DGKB_uc011jxt.2_Missense_Mutation_p.R241Q|DGKB_uc003sta.3_Missense_Mutation_p.R248Q|DGKB_uc011jxu.2_Missense_Mutation_p.R248Q|DGKB_uc011jxv.1_Missense_Mutation_p.R248Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	248					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTGCTTCAGTCGCCACACGTG	0.463000														253			54		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551782	39551782	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:39551782T>C	uc002hwn.3	-	3	735	c.682A>G	c.(682-684)Acc>Gcc	p.T228A	KRT31_uc010cxn.3_Missense_Mutation_p.T228A	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	228	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.E227K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGACTCCTGGTCTCGTTCAGC	0.597000														388			62		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086085	17086086	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:17086085_17086086insC	uc010ock.2	-	6	811_812	c.811_812insG	c.(811-813)gcgfs	p.A271fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGCAAGGTACGCCGCGGTGGTG	0.649													---	55	---	---	12	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:22838561_22838563delAAG	uc001bft.2	+	11	2906_2908	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													---	443	---	---	15	---					
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:46494559delT	uc001cov.3	+	17	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_uc001cow.3_Frame_Shift_Del_p.P724fs|MAST2_uc001coy.1_Frame_Shift_Del_p.P398fs|MAST2_uc001coz.1_Frame_Shift_Del_p.P609fs|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552													---	1068	---	---	7	---					
FAAH	2166	broad.mit.edu	37	1	46871370	46871370	+	Frame_Shift_Del	DEL	C	-	-	rs146965747		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:46871370delC	uc001cpu.2	+	4	771	c.689delC	c.(688-690)tccfs	p.S230fs	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	230					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCTGGAGGCTCCCCCCTGGGC	0.637													---	590	---	---	7	---					
CDC14A	8556	broad.mit.edu	37	1	100889836	100889837	+	Frame_Shift_Ins	INS	-	C	C	rs138415707		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:100889836_100889837insC	uc001dtf.2	+	4	856_857	c.368_369insC	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Ins_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Ins_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Ins_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Ins_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401													---	582	---	---	7	---					
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	354	---	---	7	---					
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:110906426_110906427insA	uc001dzo.2	-	8	1675_1676	c.1425_1426insT	c.(1423-1428)tttgtafs	p.F475fs	SLC16A4_uc009wfs.2_Frame_Shift_Ins_p.F427fs|SLC16A4_uc001dzp.2_Frame_Shift_Ins_p.F307fs|SLC16A4_uc010ovy.2_Frame_Shift_Ins_p.F413fs|SLC16A4_uc010ovz.2_Frame_Shift_Ins_p.L372fs|SLC16A4_uc001dzq.2_Frame_Shift_Ins_p.F245fs	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	475						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391													---	411	---	---	12	---					
TCHH	7062	broad.mit.edu	37	1	152083818	152083820	+	In_Frame_Del	DEL	CGG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	648	---	---	7	---					
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:156761535_156761536insC	uc001fqa.3	+	3	1420_1421	c.1130_1131insC	c.(1129-1131)gtcfs	p.V377fs		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal								---	377	---	---	53	---					
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													---	539	---	---	8	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:226034840_226034842delCTG	uc001hpm.2	-	23	2945_2947	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													---	656	---	---	18	---					
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:248437112delT	uc010pzi.2	-	0	5	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E2K(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													---	451	---	---	7	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	436	---	---	12	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:97808574_97808575insA	uc010yva.2	+	8	1145	c.901_splice	c.e8+2	p.V301_splice	ANKRD36_uc021vlk.1_Intron|ANKRD36_uc010yuz.1_Splice_Site|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	301								p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													---	47	---	---	21	---					
COBLL1	22837	broad.mit.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:165551296delA	uc002ucp.3	-	11	2942	c.2720delT	c.(2719-2721)ttgfs	p.L907fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.L869fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.L974fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.L915fs|COBLL1_uc002ucn.3_Frame_Shift_Del_p.L335fs|COBLL1_uc002uco.3_Frame_Shift_Del_p.L638fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	945										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418													---	227	---	---	8	---					
FAM117B	150864	broad.mit.edu	37	2	203630211	203630212	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:203630211_203630212insA	uc010zhx.2	+	7	1504_1505	c.1494_1495insA	c.(1492-1497)gacaaafs	p.D498fs		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	498										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATTGTCCTGACAAAAACAAGGT	0.416													---	767	---	---	94	---					
STAB1	23166	broad.mit.edu	37	3	52546401	52546401	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:52546401delC	uc003dej.3	+	26	3002	c.2928delC	c.(2926-2928)tgcfs	p.C976fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	976	EGF-like 9.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGCACGTGCCCCCCTGGCT	0.627													---	606	---	---	7	---					
LIAS	11019	broad.mit.edu	37	4	39462463	39462464	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:39462463_39462464insA	uc003guf.3	+	1	172_173	c.99_100insA	c.(97-102)gataaafs	p.D33fs	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Frame_Shift_Ins_p.D33fs|LIAS_uc011bym.2_Frame_Shift_Ins_p.D33fs|LIAS_uc003gug.3_Frame_Shift_Ins_p.D33fs	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CCTTGCCAGATAAAAAAAAGGA	0.391													---	1022	---	---	7	---					
PDGFRA	5156	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:54319248_54319249delAG	uc003gzy.3	+	15	1633_1634	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.R477fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.R409fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.R448fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.P67fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R487fs*3(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	agaACGCACCAGAGAGAGAGAG	0.470			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			---	310	---	---	15	---					
DUX2	26583	broad.mit.edu	37	4	190989660	190989660	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:190989660delC	uc021xvp.1	+	0	794	c.754delC	c.(754-756)cccfs	p.P252fs	DUX4L4_uc021xvq.1_5'Flank	NM_012147	NP_036279			Homo sapiens double homeobox 2 (DUX2), mRNA.																		AACGGGGCTTCCCGCACCCCA	0.786													---	155	---	---	21	---					
RAPGEF6	51735	broad.mit.edu	37	5	130815368	130815369	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:130815368_130815369insT	uc003kvn.2	-	15	2124_2125	c.1918_1919insA	c.(1918-1920)agtfs	p.S640fs	RAPGEF6_uc003kvp.2_Frame_Shift_Ins_p.S690fs|RAPGEF6_uc003kvo.2_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc010jdi.2_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc010jdj.2_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc003kvq.3_Frame_Shift_Ins_p.S357fs|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Frame_Shift_Ins_p.S640fs|RAPGEF6_uc010jdk.3_Frame_Shift_Ins_p.S640fs	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	640					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGCGATTACTTTTTTTTTCA	0.366													---	598	---	---	9	---					
HAVCR2	84868	broad.mit.edu	37	5	156535948	156535950	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	350	---	---	7	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:29455156_29455157delAC	uc011dlq.2	-	0	523_524	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													---	418	---	---	8	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:29573436_29573438delCAG	uc003nmt.4	-	19	2683_2685	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_uc003nmp.4_In_Frame_Del_p.L666del|GABBR1_uc003nms.4_In_Frame_Del_p.L666del|GABBR1_uc003nmu.4_In_Frame_Del_p.L721del|GABBR1_uc011dlr.2_In_Frame_Del_p.L606del	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													---	396	---	---	8	---					
KIAA0240	23506	broad.mit.edu	37	6	42789764	42789766	+	In_Frame_Del	DEL	GAT	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:42789764_42789766delGAT	uc003osn.1	+	2	155_157	c.4_6delGAT	c.(4-6)gatdel	p.D6del	KIAA0240_uc003osm.1_In_Frame_Del_p.D6del|KIAA0240_uc011duw.1_In_Frame_Del_p.D6del|KIAA0240_uc003oso.1_In_Frame_Del_p.D6del|KIAA0240_uc003osp.1_In_Frame_Del_p.D6del	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	6										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGTTGTCATGGATGATGATGATG	0.369													---	521	---	---	7	---					
UTRN	7402	broad.mit.edu	37	6	144769847	144769849	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:144769847_144769849delCCT	uc003qkt.3	+	15	2106_2108	c.2014_2016delCCT	c.(2014-2016)cctdel	p.P677del	UTRN_uc010khq.1_In_Frame_Del_p.P677del	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	677	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.P672H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGAACTGCCTCCTCCTCCTC	0.409													---	372	---	---	8	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													---	586	---	---	11	---					
CTSB	1508	broad.mit.edu	37	8	11705590	11705591	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:11705590_11705591insA	uc003wuq.3	-	5	679_680	c.517_518insT	c.(517-519)tatfs	p.Y173fs	CTSB_uc003wul.3_Frame_Shift_Ins_p.Y110fs|CTSB_uc010lsc.3_Frame_Shift_Ins_p.Y49fs|CTSB_uc011kxl.2_Frame_Shift_Ins_p.Y94fs|CTSB_uc003wum.3_Frame_Shift_Ins_p.Y173fs|CTSB_uc003wun.3_Frame_Shift_Ins_p.Y173fs|CTSB_uc003wuo.3_Frame_Shift_Ins_p.Y173fs|CTSB_uc003wup.3_Frame_Shift_Ins_p.Y173fs|CTSB_uc003wuu.3_Frame_Shift_Ins_p.Y29fs	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	173					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ATGGGATTCATAGAGGCCACCA	0.450													---	339	---	---	58	---					
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:37791833_37791834insT	uc011lbj.1	-	8	1343_1344	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	415					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													---	435	---	---	9	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													---	747	---	---	10	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	743	---	---	9	---					
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:73480396_73480397insA	uc003xzb.3	+	1	1015_1016	c.427_428insA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(2)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446													---	649	---	---	9	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:94486026_94486028delTCC	uc004arj.2	-	8	2947_2949	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	916					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						GACAGAGCCTTCCTCCTCCTCCT	0.645													---	597	---	---	11	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:119976989_119976991delCAG	uc004bjt.2	-	2	762_764	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													---	310	---	---	12	---					
GAPVD1	26130	broad.mit.edu	37	9	128064260	128064260	+	Splice_Site	DEL	A	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:128064260delA	uc004bpp.3	+	3	346	c.186_splice	c.e3-2	p.S62_splice	GAPVD1_uc004bpo.3_Splice_Site_p.S62_splice|GAPVD1_uc011lzs.1_Splice_Site_p.S62_splice|GAPVD1_uc004bpq.3_Splice_Site_p.S62_splice|GAPVD1_uc010mwx.3_Splice_Site_p.S62_splice|GAPVD1_uc004bpr.3_Splice_Site_p.S62_splice|GAPVD1_uc004bps.3_Splice_Site_p.S62_splice|GAPVD1_uc010mwy.1_5'Flank	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	62					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTTTTTTTTAGTGCTGAAGC	0.328													---	197	---	---	9	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:133759490_133759492delAAG	uc004bzw.3	+	10	1816_1818	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del	ABL1_uc004bzv.3_In_Frame_Del_p.K628del	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	609	Poly-Lys.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								---	881	---	---	23	---					
KIAA0913	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:75560463_75560464insC	uc001jvj.3	+	23	5308_5309	c.5053_5054insC	c.(5053-5055)tccfs	p.S1685fs	KIAA0913_uc001jve.3_Frame_Shift_Ins_p.S1698fs|KIAA0913_uc009xrl.3_Frame_Shift_Ins_p.S1693fs|KIAA0913_uc001jvf.3_Frame_Shift_Ins_p.S1511fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Ins_p.S1120fs|KIAA0913_uc010qkr.2_Frame_Shift_Ins_p.S1108fs|KIAA0913_uc009xrn.2_Frame_Shift_Ins_p.S104fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1693							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCTCCCGCTCCCCCCCCTAC	0.604													---	497	---	---	8	---					
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822525	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:16822525delA	uc010rcu.1	-	16	2420	c.2405delT	c.(2404-2406)ttcfs	p.F802fs	PLEKHA7_uc001mmo.3_Frame_Shift_Del_p.F802fs|PLEKHA7_uc010rcv.2_Frame_Shift_Del_p.F376fs|PLEKHA7_uc001mmn.3_Frame_Shift_Del_p.F510fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCACCTGGAAAAAAAAGGC	0.443													---	834	---	---	8	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:19901475_19901477delAGC	uc010rdm.2	+	4	933_935	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_uc001mpp.3_In_Frame_Del_p.Q132del|NAV2_uc001mpr.4_In_Frame_Del_p.Q196del|NAV2_uc021qew.1_In_Frame_Del_p.Q196del	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	196	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													---	587	---	---	9	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:46829683delT	uc001ndi.2	-	7	1002	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_uc009ylg.1_Frame_Shift_Del_p.K178fs|CKAP5_uc001ndj.2_Frame_Shift_Del_p.K292fs	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	292					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													---	862	---	---	7	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	754	---	---	11	---					
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	-	-	rs138421508		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:45580365_45580367delGAT	uc001uzq.3	+	2	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													---	931	---	---	13	---					
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:103524612delA	uc001vpu.2	+	20	4227	c.4105delA	c.(4105-4107)aaafs	p.K1369fs	BIVM-ERCC5_uc001vpw.3_Frame_Shift_Del_p.K915fs|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Frame_Shift_Del_p.K747fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1340					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CACCAAAGTGAAAAAAAAATT	0.428													---	294	---	---	8	---					
FBXO34	55030	broad.mit.edu	37	14	55818554	55818555	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:55818554_55818555insT	uc021rtk.1	+	0	1446_1447	c.1446_1447insT	c.(1444-1449)ttgtttfs	p.L482fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Ins_p.L482fs|FBXO34_uc010aoo.3_Frame_Shift_Ins_p.L482fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	482										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGGGATGTTGTTTTTTTTGCC	0.441													---	559	---	---	7	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:89876828_89876830delTGC	uc002bns.4	-	1	438_440	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	POLG_uc002bnr.4_In_Frame_Del_p.52_53QQ>Q|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	52	Poly-Gln.				DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					---	113	---	---	8	---					
RPL2B	0	broad.mit.edu	37	16	436725	436726	+	Frame_Shift_Del	DEL	CC	-	-	rs35133424	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:436725_436726delCC	uc002cgx.3	+	0	63_64	c.35_36delCC	c.(34-36)accfs	p.T12fs	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		aaaaaaaaaaccaaaaaaaaaa	0.391													---	110	---	---	7	---					
C16orf88	400506	broad.mit.edu	37	16	19722724	19722724	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:19722724delT	uc002dgq.3	-	2	972	c.957delA	c.(955-957)aaafs	p.K319fs		NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	319	Interaction with ZFP106 (By similarity).					nucleolus		p.K319N(2)|p.G320fs*5(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						CCATGTTGCCTTTTTTTTCCA	0.562													---	488	---	---	10	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:24921737_24921739delCAG	uc002dmu.3	+	14	1992_1994	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_uc002dms.3_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.2_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.3_In_Frame_Del_p.S436del|SLC5A11_uc010vce.2_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.3_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.3_In_Frame_Del_p.S215del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	592					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													---	383	---	---	15	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:28734579_28734581delGAG	uc010byj.3	+	8	960_962	c.871_873delGAG	c.(871-873)gagdel	p.E294del	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_In_Frame_Del_p.E294del|EIF3C_uc002dqs.4_In_Frame_Del_p.E294del|EIF3C_uc002dqt.4_In_Frame_Del_p.E294del|EIF3C_uc010vcy.2_In_Frame_Del_p.E284del|EIF3C_uc002dqu.4_In_Frame_Del_p.E294del|EIF3C_uc002dqv.4_In_Frame_Del_p.E40del	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													---	3538	---	---	9	---					
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:49077041delT	uc002itc.3	-	13	1854	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_uc002itd.3_Frame_Shift_Del_p.R535fs|SPAG9_uc002itb.3_Frame_Shift_Del_p.R535fs|SPAG9_uc002itf.3_Frame_Shift_Del_p.R370fs|SPAG9_uc002ita.3_Frame_Shift_Del_p.R392fs|SPAG9_uc002ite.3_Frame_Shift_Del_p.R379fs	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	549					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		p.R535fs*28(1)		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)			ATGCTTGACCTTTTTTTTTCC	0.323													---	251	---	---	14	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:36255947_36255949delCTC	uc021usz.1	+	6	712_714	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													---	1232	---	---	7	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	693	---	---	10	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54675747_54675749delTCC	uc010erf.3	-	1	333_335	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_uc002qdo.3_In_Frame_Del_p.E61del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													---	447	---	---	9	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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)			---	310	---	---	10	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	388	---	---	7	---					
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	-	-	rs111939959		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	634	---	---	8	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	1799	---	---	7	---					
MN1	4330	broad.mit.edu	37	22	28194934	28194936	+	In_Frame_Del	DEL	TGC	-	-	rs45480998		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:28194934_28194936delTGC	uc003adj.3	-	0	2551_2553	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	532	Poly-Gln.						binding	p.Q532Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.650			T	ETV6	"""AML, meningioma"""								---	43	---	---	7	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	579	---	---	7	---					
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:41650469_41650471delTCC	uc003azs.3	-	9	2571_2573	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_uc003azt.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc003azu.3_In_Frame_Del_p.367_368EE>E|RANGAP1_uc011aoz.2_In_Frame_Del_p.312_313EE>E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	367	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562													---	614	---	---	10	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:54011405_54011407delCTC	uc004dsu.3	-	17	2737_2739	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_uc004dsv.3_In_Frame_Del_p.E661del|PHF8_uc004dst.3_In_Frame_Del_p.E795del|PHF8_uc004dsw.3_In_Frame_Del_p.E694del|PHF8_uc004dsx.3_In_Frame_Del_p.E559del|PHF8_uc004dsy.3_In_Frame_Del_p.E778del	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	831					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													---	848	---	---	15	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:70360680_70360682delGCA	uc004dyy.3	+	41	6439_6441	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_uc004dyz.3_In_Frame_Del_p.Q2085del|MED12_uc004dza.3_In_Frame_Del_p.Q1936del|MED12_uc010nla.3_In_Frame_Del_p.Q715del	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2086	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)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						---	251	---	---	7	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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													---	627	---	---	13	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:92928153_92928155delTGC	uc004efq.3	-	0	528_530	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	50	Ser-rich.				nucleosome assembly	chromatin assembly complex		p.S49N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													---	216	---	---	7	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:119072752_119072753delTC	uc004esh.3	-	1	574_575	c.407_408delGA	c.(406-408)agafs	p.R136fs	NKAP_uc004esg.3_5'Flank	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	136					Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322													---	639	---	---	8	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													---	373	---	---	15	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	-	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:149639633_149639635delGCA	uc011mxu.2	+	2	2023_2025	c.1713_1715delGCA	c.(1711-1716)ctgcag>ctg	p.Q581del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q606del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q533del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	606					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													---	639	---	---	8	---					
