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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													16	679					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150938637	150938637	+	Missense_Mutation	SNP	C	C	T	rs145160991		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:150938637C>T	ENST00000271688.6	-	11	1516	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.R377H|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000561294.1_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	377						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTCATTCTTACGATGGTTGTT	0.547000													135	622					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77416900	77416900	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:77416900C>T	ENST00000451710.3	-	16	2160	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	TRPM6_ENST00000361255.3_Silent_p.A636A|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.A636A|TRPM6_ENST00000376864.4_Silent_p.A641A|TRPM6_ENST00000360774.1_Silent_p.A641A|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	641					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAGGATACACGCAATCACGG	0.493000													84	278					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			49	156					0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072487	176072487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:176072487C>T	ENST00000318682.6	+	8	1168	c.584C>T	c.(583-585)gCg>gTg	p.A195V	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.A195V|EIF4E1B_ENST00000512734.1_3'UTR	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	195					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGGGAGGCGGAAAACCAG	0.627000													10	225					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													26	652					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33095176	33095176	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:33095176G>C	ENST00000306065.4	-	25	2806	c.2648C>G	c.(2647-2649)gCt>gGt	p.A883G		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	883					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TACCTGTTCAGCACAGTCTAC	0.542000													12	238					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	67					1.024e-07	1.0752e-07	1	1	0
RBM27	54439	broad.mit.edu	37	5	145609322	145609322	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:145609322T>A	ENST00000265271.5	+	5	604	c.438T>A	c.(436-438)taT>taA	p.Y146*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.Y146*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	146	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAGACTATGACCGGTACT	0.438000													27	842					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596649	58596649	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:58596649G>A	ENST00000240727.6	-	7	1335	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ZSCAN18_ENST00000601144.1_Silent_p.D312D|ZSCAN18_ENST00000421612.2_Silent_p.D176D|ZSCAN18_ENST00000600404.1_Silent_p.D368D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	312					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGCAAGGGCGTCCCCAGGGG	0.751000													33	112					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747768	121747768	+	Silent	SNP	G	G	A	rs143388073	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:121747768G>A	ENST00000452319.1	+	14	4338	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.S1426S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1426					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGGGGTCGGTGCCTCCCC	0.657000													82	311					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135809443	135809443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:135809443G>A	ENST00000264977.3	+	10	3478	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.G333E|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.G218E	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	954					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAAAGAGGGAAGAATGAGC	0.343000													8	217					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157880	59157880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr18:59157880G>A	ENST00000262717.4	+	2	492	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CDH20_ENST00000536675.2_Missense_Mutation_p.V32I|CDH20_ENST00000538374.1_Missense_Mutation_p.V32I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGACCACCGTTCTCTCGGA	0.522000													105	280					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512928	68512928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:68512928C>T	ENST00000370981.1	-	4	689	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R18Q			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	18					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGCAGAAGCCGCAACCGCTT	0.582000													66	289					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44254784	44254784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:44254784C>T	ENST00000601170.1	-	2	424	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SMG9_ENST00000270066.6_Missense_Mutation_p.R37Q			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	37					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GTCCCTCTCCCGACCACCAGG	0.582000													115	481					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47144265	47144265	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:47144265C>T	ENST00000371933.3	-	11	2332	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		AGGTCAGCTTCCCATCCACGT	0.423000													8	322					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	10032400	10032400	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:10032400C>T	ENST00000396573.2	-	4	732	c.423G>A	c.(421-423)acG>acA	p.T141T	GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000562109.1_Silent_p.T141T|GRIN2A_ENST00000330684.3_Silent_p.T141T|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.T141T|GRIN2A_ENST00000396575.2_Silent_p.T141T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	141					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAAGGTAGACGTCGGATCCT	0.478000													47	367					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227571	38227571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38227571G>A	ENST00000373048.4	-	3	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A119V|EPHA10_ENST00000319637.6_Missense_Mutation_p.A119V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	119						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGGTACCCGCGGCGCCAGG	0.652000													193	1820					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	286491	286491	+	Missense_Mutation	SNP	G	G	A	rs3209441	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:286491G>A	ENST00000453981.1	+	3	299	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DOCK8_ENST00000432829.2_5'UTR|DOCK8_ENST00000469391.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	63					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGCCAGTGGACTTTGAAGG	0.517000													5	193					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762804	138762804	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:138762804T>C	ENST00000413199.1	-	1	930	c.659A>G	c.(658-660)cAt>cGt	p.H220R	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.H220R	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	220	Pro-rich.									breast(2)|lung(7)|skin(2)	11						CTCCAGAAGATGGAATTCCAG	0.677000													8	106					0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114535842	114535842	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:114535842A>C	ENST00000357389.3	-	9	999	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	GAS6_ENST00000327773.6_Intron|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000450766.1_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	283					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGAGTGGCCACCCCGCCTCT	0.711000													14	50					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38171170	38171170	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38171170C>T	ENST00000373055.1	+	8	915	c.642C>T	c.(640-642)atC>atT	p.I214I	CDCA8_ENST00000327331.2_Silent_p.I214I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	214					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTACAACATCTCAGGGAATG	0.532000													193	340					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													12	641					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26124090	26124090	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:26124090A>T	ENST00000314332.5	-	1	48	c.43T>A	c.(43-45)Tcc>Acc	p.S15T	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S15T			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCCTTCTTGGAGCCCTTCTTC	0.512000													154	646					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													18	322					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								10	381					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740162	124740162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:124740162C>T	ENST00000397801.1	+	5	1060	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R268C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	290	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTCGTCTACGCTGGCGCAA	0.587000													48	165					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													10	475					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518434	105518434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:105518434C>T	ENST00000329797.3	-	4	951	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.A5T|GPR132_ENST00000539291.2_Missense_Mutation_p.A14T	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	14					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACTGGGGTGGCGTTTCCTGTG	0.587000													76	300					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													5	67					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													15	841					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	226					0.0293803	0.0296154	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													6	122					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49253828	49253828	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49253828G>A	ENST00000310160.3	-	4	1685	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657000													159	614					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421569	150421569	+	Silent	SNP	T	T	C	rs142916868	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	39	Glu-rich.							p.E39E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.627000													9	104					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34162110	34162110	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:34162110G>A	ENST00000257829.3	+	24	2789	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.A789A	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	861	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCCTGTCTGCGGCTCAGTCGG	0.527000													32	161					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762803	138762803	+	Silent	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:138762803A>G	ENST00000413199.1	-	1	931	c.660T>C	c.(658-660)caT>caC	p.H220H	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.H220H	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	220	Pro-rich.									breast(2)|lung(7)|skin(2)	11						GCTCCAGAAGATGGAATTCCA	0.677000													8	105					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101495	99101495	+	Silent	SNP	C	C	T	rs151309291		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:99101495C>T	ENST00000318528.3	+	2	609	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	84										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGAACAGCCCCTGGCCAAGGA	0.547000													91	420					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782890	80782890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:80782890G>A	ENST00000466387.1	+	16	2337	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R538Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R217Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R572Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	538					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R538Q(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTCTGGACCGGACTGCAGGG	0.502000													12	570					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868932	57868932	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:57868932G>A	ENST00000391705.3	+	4	1979	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G	ZNF304_ENST00000598744.1_Silent_p.G523G|ZNF304_ENST00000282286.5_Silent_p.G565G|ZNF304_ENST00000443917.2_Silent_p.G612G	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGAATGTGGGAAGGCTTACA	0.463000													48	257					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													12	441					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659764	24659764	+	RNA	SNP	C	C	G	rs143464834	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:24659764C>G	ENST00000414583.2	+	0	3289					NR_003714.1																						AGTGTCCTAACAGCCCTGCTT	0.627000													4	60					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:8160957G>A	ENST00000600128.1	-	45	5961	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D	FBN3_ENST00000270509.2_Silent_p.D1849D|FBN3_ENST00000601739.1_Silent_p.D1849D			Q75N90	FBN3_HUMAN	fibrillin 3	1849	EGF-like 29; calcium-binding.					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						GGTCACACTCGTCAATGTCTG	0.582000													70	315					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(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)			14	81					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													11	230					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:74635350C>T	ENST00000358632.4	-	5	1179	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	CYP11A1_ENST00000419019.2_Missense_Mutation_p.V162I|CYP11A1_ENST00000268053.6_Missense_Mutation_p.V320I|CYP11A1_ENST00000541301.1_3'UTR	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602000													97	494					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099793	133099793	+	Missense_Mutation	SNP	G	G	A	rs149789292		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:133099793G>A	ENST00000515826.1	+	3	1361	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	TMEM108_ENST00000321871.6_Missense_Mutation_p.R413Q|TMEM108_ENST00000393130.3_Missense_Mutation_p.R413Q|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	413						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGACCGACCGGGTGCCCAGT	0.612000													78	295					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	347142	347142	+	Silent	SNP	G	G	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:347142G>T	ENST00000343164.4	-	5	565	c.513C>A	c.(511-513)tcC>tcA	p.S171S	SLC6A13_ENST00000445055.2_Silent_p.S79S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	171					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TACCATTCAGGGAGCCGTTGG	0.522000													1063	217					0	0	1	1	0
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398000													9	216					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433411	55433411	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:55433411A>G	ENST00000314259.3	+	1	798	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTCTTGTACATGAGGCCTGT	0.488000													110	565					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39776925	39776925	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:39776925C>T	ENST00000540235.1	-	9	1643	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	KRT17_ENST00000311208.8_Silent_p.E389E			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCCTCTCCCTCCAGCAGGC	0.602000													59	400					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106091475	106091475	+	RNA	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:106091475G>A	ENST00000390543.2	-	0	418																											CACCACGCACGTGACCTCAGG	0.592000													109	713					0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564658	49564658	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49564658G>A	ENST00000301411.3	-	2	737	c.597C>T	c.(595-597)tgC>tgT	p.C199C	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Silent_p.C199C	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	199					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGTGCAGACGCAGGCAGTGT	0.607000													61	282					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													6	74					0.000274275	0.000278699	1	1	0
FAM21A	387680	broad.mit.edu	37	10	51863872	51863872	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:51863872T>C	ENST00000351071.6	+	18	1824	c.1706T>C	c.(1705-1707)tTg>tCg	p.L569S	FAM21A_ENST00000399339.2_Missense_Mutation_p.L481S|FAM21A_ENST00000314664.7_Missense_Mutation_p.L569S|FAM21A_ENST00000282633.5_Missense_Mutation_p.L569S			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	569					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						CTCCCCACGTTGGTTTCCCTG	0.388000													5	178					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765432	57765432	+	Silent	SNP	A	A	G	rs8100154	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:57765432A>G	ENST00000535550.1	+	4	1342	c.846A>G	c.(844-846)aaA>aaG	p.K282K	ZNF805_ENST00000354309.4_Silent_p.K282K|ZNF805_ENST00000414468.2_Silent_p.K415K	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CCTACCTCAAAAGGCACCAGC	0.527000													7	247					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154138	5154138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:5154138C>A	ENST00000252321.3	+	1	1054	c.825C>A	c.(823-825)ttC>ttA	p.F275L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	275						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCCTGAGTTCAGGGATGAAC	0.682000													156	2042					8.77104e-35	9.28699e-35	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													17	1018					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													9	468					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													4	40					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600513	29600513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:29600513G>A	ENST00000431530.3	+	1	1766	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	560						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGATGTTAGCGTGTTCGGTAT	0.517000													103	424					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43826618	43826618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:43826618C>T	ENST00000372462.1	+	7	1266	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	CDC20_ENST00000310955.6_Nonsense_Mutation_p.Q355*			Q12834	CDC20_HUMAN	cell division cycle 20	355					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCCAGCATCAAGGGGCTGT	0.537000													71	259					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462237	17462237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:17462237C>T	ENST00000262545.2	+	12	1754	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	PCSK2_ENST00000536609.1_Missense_Mutation_p.P445L|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.P461L	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	480					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAAAATACCATCCACTGGC	0.537000													94	528					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985143	985143	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:985143T>A	ENST00000361661.2	-	3	726	c.349A>T	c.(349-351)Acc>Tcc	p.T117S	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.T117S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.T117S	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	117						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCGTGAGGTGCCCATGAGG	0.627000													164	741					0	0	1	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75487108	75487108	+	RNA	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:75487108G>A	ENST00000399449.3	-	0	369				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							GTGAAGTTCCGAATGAGGCAT	0.522000													142	640					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:44083353A>T	ENST00000262726.7	-	11	1393	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299000													24	109					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86544637	86544637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:86544637G>T	ENST00000262426.4	+	1	505	c.462G>T	c.(460-462)atG>atT	p.M154I		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	154					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCAAGCCCATGTACAGCATGA	0.677000													130	556					1.39264e-60	1.49976e-60	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								37	172					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													8	237					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16298589	16298589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:16298589G>A	ENST00000407010.2	-	7	981	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	ISPD_ENST00000399310.3_Nonsense_Mutation_p.Q278*|AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	328					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATGATTTGCTGAAGATGTCTG	0.348000										Multiple Myeloma(15;0.18)			13	80					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116427120	116427120	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:116427120G>C	ENST00000395715.3	-	7	3593	c.3016C>G	c.(3016-3018)Cag>Gag	p.Q1006E	TRPS1_ENST00000520276.1_Missense_Mutation_p.Q997E|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q747E|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q993E	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	993	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTCTCTCTGGTGACTTTCA	0.502000									Langer-Giedion syndrome				32	641					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													10	235					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929																											CGCGTGGGAACGAGAAGACAC	0.562000													7	160					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256484	34256484	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:34256484G>C	ENST00000379166.2	-	11	3240	c.3121C>G	c.(3121-3123)Cat>Gat	p.H1041D	KIF24_ENST00000345050.2_Missense_Mutation_p.H907D|KIF24_ENST00000379174.3_Missense_Mutation_p.H907D|KIF24_ENST00000402558.2_Missense_Mutation_p.H1041D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TATTCAGCATGCGTGCCTAAC	0.572000													75	379					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18079776	18079776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:18079776C>T	ENST00000539092.1	+	5	911	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	NAT1_ENST00000518029.1_Missense_Mutation_p.L74F|NAT1_ENST00000545197.1_Missense_Mutation_p.L136F|NAT1_ENST00000535084.1_Missense_Mutation_p.L74F|NAT1_ENST00000517492.1_Missense_Mutation_p.L74F|NAT1_ENST00000307719.4_Missense_Mutation_p.L74F|NAT1_ENST00000541942.1_Missense_Mutation_p.L74F|NAT1_ENST00000520546.1_Missense_Mutation_p.L74F|NAT1_ENST00000517441.1_3'UTR	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	74					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGTCAATCATCTTCTGTACTG	0.463000													11	663					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657411	143657411	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:143657411G>A	ENST00000392899.1	+	1	385	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTCCTGGCGGTGATGGCCT	0.537000													100	674					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45540789	45540789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:45540789C>T	ENST00000221452.8	+	12	1631	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	RELB_ENST00000540120.1_Missense_Mutation_p.T494M|RELB_ENST00000505236.1_Missense_Mutation_p.T491M	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	494						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TACGACCCTACGGCCCCCACA	0.692000													59	284					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													10	1023	---	---	---	---					
CLSTN1	22883	broad.mit.edu	37	1	9790640	9790642	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:9790640_9790642delCCT	ENST00000377298.4	-	19	3662_3664	c.2870_2872delAGG	c.(2869-2874)ggg>g	p.EG957del	CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	957	Glu-rich (highly acidic).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGCTCCCCCTCCTCCTCCTC	0.645													7	665	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	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													10	382	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													10	937	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													7	767	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													21	1994	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666527	50666528	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:50666527_50666528insC	ENST00000371824.1	+	7	1035_1036	c.778_779insC	c.(778-780)cccfs	p.P260fs	ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.P279fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.P277fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.P265fs|ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.P263fs|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.P274fs|ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.P260fs			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	274					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CCCCAGGTTCTCCCCAATTACC	0.535													10	711	---	---	---	---					
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)aaafs	p.K291fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337													7	311	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)del	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								7	1411	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													10	87	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								14	959	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)del	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA 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)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													8	1284	---	---	---	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)cgg>c	p.HR729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													12	492	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													10	503	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													16	425	---	---	---	---					
AC007040.8	0	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs35074164		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.530													7	35	---	---	---	---					
CHMP3	51652	broad.mit.edu	37	2	86732976	86732978	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:86732976_86732978delTCC	ENST00000263856.4	-	6	746_748	c.618_620delGGA	c.(616-621)gaa>ga	p.EE206del	RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		CAGAGCCTCTTCCTCCTCCTCCT	0.616													8	594	---	---	---	---					
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs72096937		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:233712228_233712230delCAG	ENST00000373566.3	+	28	3894_3896	c.3697_3699delCAG	c.(3697-3699)del	p.Q1238del	GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547													13	265	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													12	1188	---	---	---	---					
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:65372850_65372851delTC	ENST00000330909.8	-	15	2466_2467	c.2467_2468delGA	c.(2467-2469)afs	p.E823fs	MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGAATTGATTTCTCTCTCTCTC	0.401													8	318	---	---	---	---					
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:71247357_71247359delTGC	ENST00000318789.4	-	6	699_701	c.174_176delGCA	c.(172-177)caa>ca	p.QQ58del	FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	58	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL								8	685	---	---	---	---					
PRR23A	729627	broad.mit.edu	37	3	138724388	138724396	+	In_Frame_Del	DEL	CCCCACGCG	CCCCACGCG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:138724388_138724396delCCCCACGCG	ENST00000383163.2	-	1	714_722	c.715_723delCGCGTGGGG	c.(715-723)del	p.RVG239del		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	239	Pro-rich.							p.R239C(1)		endometrium(3)|kidney(1)|lung(7)	11						GACCTGGACTCCCCACGCGCGGAGAGGGA	0.646													9	61	---	---	---	---					
RP11-167H9.4	0	broad.mit.edu	37	3	149769296	149769296	+	RNA	DEL	C	C	-	rs59377959		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:149769296delC	ENST00000487840.1	+	0	46																											TTCCTGGTGTCtttttttttt	0.463													11	416	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													12	546	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167728581	167728581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:167728581delT	ENST00000470487.1	-	15	2580	c.1891delA	c.(1891-1893)ggfs	p.R631fs	GOLIM4_ENST00000309027.4_Frame_Shift_Del_p.R603fs	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	631	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCAGTTCCCTTTTTTTCTCT	0.358													7	689	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													9	1309	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)ggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448													7	1665	---	---	---	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													7	68	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39206803	39206804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:39206803_39206804insT	ENST00000399820.3	+	8	787_788	c.633_634insT	c.(631-636)ttttttfs	p.FF211fs	WDR19_ENST00000288634.7_Frame_Shift_Ins_p.FF51fs|WDR19_ENST00000506503.1_Frame_Shift_Ins_p.FF211fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	211					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGAAAACTTTGTTTTTTTTAAA	0.361													8	45	---	---	---	---					
CENPC	1060	broad.mit.edu	37	4	68384936	68384936	+	Splice_Site	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:68384936delT	ENST00000273853.6	-	6	866	c.617_splice	c.e6+1	p.R206_splice		NM_001812.2	NP_001803.2			centromere protein C																		AAATGTTACCTTTTTTTGGTT	0.264													7	245	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aagatgfs	p.M75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322													12	338	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													16	937	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													8	341	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	377	---	---	---	---					
ZNF827	152485	broad.mit.edu	37	4	146823381	146823383	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:146823381_146823383delGTG	ENST00000508784.1	-	2	1255_1257	c.1028_1030delCAC	c.(1027-1032)caa>c	p.PQ343del	ZNF827_ENST00000379448.4_In_Frame_Del_p.PQ343del|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCAGGGATTgtggtggtggtgg	0.512													8	256	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151509211	151509211	+	Frame_Shift_Del	DEL	T	T	-	rs34237929		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:151509211delT	ENST00000535741.1	-	40	6792	c.6319delA	c.(6319-6321)tcfs	p.I2107fs	LRBA_ENST00000357115.3_Frame_Shift_Del_p.I2118fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.I2107fs			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2118						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGGGGTCGATTTTTTTGAAG	0.453													8	1382	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													8	286	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:32089076delA	ENST00000438447.1	+	20	5910	c.5522delA	c.(5521-5523)cafs	p.Q1841fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1841					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.V1845fs*6(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTCAAGCCAAAAAAAGGGC	0.478													9	516	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)del	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													8	791	---	---	---	---					
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													8	1474	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													18	114	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													7	1071	---	---	---	---					
AFF4	27125	broad.mit.edu	37	5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-	rs35626495		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aafs	p.K166fs	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATGCTGGCCTTTTTTCCGGC	0.512													7	898	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aac>aa	p.NS61del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	61	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.700													7	340	---	---	---	---					
PCDHB4	0	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(904-909)ttaaaafs	p.LK302fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													19	1047	---	---	---	---					
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtg>gt	p.VK401del	GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del|GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	401	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645													10	664	---	---	---	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:179149920delT	ENST00000247461.4	+	11	1498	c.1298delT	c.(1297-1299)atfs	p.I433fs	CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	433				SDI -> LTF (in Ref. 9; AAA35696).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													7	593	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													17	36	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18236737	18236740	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:18236737_18236740delTTTC	ENST00000397239.3	-	9	1437_1440	c.990_993delGAAA	c.(988-993)aafs	p.KK330fs	DEK_ENST00000244776.7_Frame_Shift_Del_p.KK296fs	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	330					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGCCAGTAATTTCTTTATTGTTT	0.314			T	NUP214	AML								68	365	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaa>ga	p.EE46del	DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								7	458	---	---	---	---					
DAXX	1616	broad.mit.edu	37	6	33287898	33287900	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:33287898_33287900delTCC	ENST00000374542.5	-	5	1557_1559	c.1353_1355delGGA	c.(1351-1356)gaa>ga	p.EE455del	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	455	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ctcttcttcttcctcctcctcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								7	239	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)ctfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664								p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502													7	673	---	---	---	---					
TULP1	7287	broad.mit.edu	37	6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaa>ga	p.EE122del	TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	122	Poly-Glu.		Missing (in RP14).		dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						gtcctcctcttcctcctcctcct	0.567													7	624	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													15	339	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													7	312	---	---	---	---					
SEC63	11231	broad.mit.edu	37	6	108214755	108214755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:108214755delT	ENST00000369002.4	-	16	1784	c.1605delA	c.(1603-1605)aafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTA	0.343													31	756	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													11	568	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													10	473	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143081678	143081680	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:143081678_143081680delTCA	ENST00000367603.2	-	9	6487_6489	c.5745_5747delTGA	c.(5743-5748)gaa>ga	p.DE1917del	HIVEP2_ENST00000367604.1_In_Frame_Del_p.DE1917del|HIVEP2_ENST00000012134.2_In_Frame_Del_p.DE1917del	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1917	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		atcttcatcttcatcatcatcat	0.443													9	178	---	---	---	---					
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:146264834_146264836delATC	ENST00000367503.3	-	9	2079_2081	c.1681_1683delGAT	c.(1681-1683)del	p.D561del	SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.360													12	614	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6771664	6771664	+	RNA	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:6771664delT	ENST00000486256.1	+	0	619					NR_002217.1																						GGATTCCTACttttttttttc	0.413													7	249	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)cac>ca	p.HR72del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	72	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	382	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)taafs	p.*299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML								7	623	---	---	---	---					
STAG3L4	0	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													12	27	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	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													19	823	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													8	34	---	---	---	---					
TRBV6-8	0	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G	rs72463875		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49																											AATCCACGCAAGGGCCCTGCCC	0.614													7	555	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													11	312	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													8	52	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													8	387	---	---	---	---					
RP11-108E14.1	0	broad.mit.edu	37	8	20524574	20524574	+	RNA	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:20524574delG	ENST00000517706.1	-	0	195																											ATGGGCAAGAGGAGACAGTGC	0.522													2	4	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													23	791	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													30	26	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)cafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	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)			AGATATCATCAAAAAAAAGAA	0.448													10	567	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:74507471delT	ENST00000355780.5	-	10	1213	c.995delA	c.(994-996)atfs	p.N332fs	STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													7	378	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													11	72	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													9	313	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			7	1471	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511959	+	In_Frame_Del	DEL	TGGTGG	TGGTGG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:144511954_144511959delTGGTGG	ENST00000333480.2	-	1	617_622	c.618_623delCCACCA	c.(616-624)cat>ca	p.HHH206del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	206	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggtggt	0.748										HNSCC(29;0.082)			6	10	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													12	141	---	---	---	---					
MOB3B	79817	broad.mit.edu	37	9	27359177	27359177	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:27359177delA	ENST00000262244.5	-	3	900	c.476delT	c.(475-477)tcfs	p.F159fs	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN	MOB kinase activator 3B	159							metal ion binding|protein binding										AAAGACCCGGAAAAGGCGGCA	0.458													8	1493	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													7	250	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gat>ga	p.ED273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													12	897	---	---	---	---					
CELP	0	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2																						TCTGAGGCTGCCCCCGTGTCC	0.677													7	24	---	---	---	---					
ARHGAP21	57584	broad.mit.edu	37	10	24874488	24874488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:24874488delA	ENST00000396432.2	-	26	5216	c.4730delT	c.(4729-4731)tgfs	p.L1577fs		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1576					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GACGTTGGCCAAAAACTCGCT	0.512													7	481	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													7	30	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			11	619	---	---	---	---					
EGR2	1959	broad.mit.edu	37	10	64573487	64573489	+	In_Frame_Del	DEL	GCT	GCT	-	rs112474655		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:64573487_64573489delGCT	ENST00000242480.3	-	2	1234_1236	c.909_911delAGC	c.(907-912)gcc>gc	p.AA307del	EGR2_ENST00000411732.1_In_Frame_Del_p.AA257del|EGR2_ENST00000439032.1_In_Frame_Del_p.AA307del	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	307	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCGGCGGCGGCTGCTGCTGCTG	0.695													7	295	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6076_splice	c.e16+1	p.K2025_splice	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373													7	599	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													8	1102	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103917043	103917045	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr10:103917043_103917045delGAG	ENST00000405356.1	+	3	509_511	c.274_276delGAG	c.(274-276)del	p.E96del	NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000488254.2_In_Frame_Del_p.E97del|NOLC1_ENST00000605788.1_In_Frame_Del_p.E96del			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	96	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGACAGCAGCGAGGAGGAGGAGG	0.537													8	235	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													14	532	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													8	1700	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													9	818	---	---	---	---					
PRDM11	56981	broad.mit.edu	37	11	45246252	45246252	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:45246252delT	ENST00000263765.4	+	8	1578	c.1329delT	c.(1327-1329)tcfs	p.S443fs	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Frame_Shift_Del_p.S443fs|PRDM11_ENST00000424263.2_Frame_Shift_Del_p.S409fs|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	443										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCACCACCTCTTTTTGCCCTA	0.522													7	2221	---	---	---	---					
CTNND1	1500	broad.mit.edu	37	11	57564171	57564172	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:57564171_57564172insC	ENST00000524630.1	+	6	1176_1177	c.663_664insC	c.(661-666)tacaggfs	p.R222fs	CTNND1_ENST00000361796.4_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000361332.4_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000415361.2_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000534579.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000529986.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000361391.6_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000526938.1_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000529873.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000360682.6_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000428599.2_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000532649.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000528232.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000532463.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000528621.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000529919.1_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000399050.4_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000358694.6_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000532844.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000530748.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000532245.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000399039.4_Frame_Shift_Ins_p.R222fs|CTNND1_ENST00000532787.1_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000426142.2_Frame_Shift_Ins_p.R121fs|CTNND1_ENST00000526357.1_Frame_Shift_Ins_p.R168fs|CTNND1_ENST00000529526.1_Frame_Shift_Ins_p.R168fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	222					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATGGTTATCCAGGTGGCAG	0.564													155	734	---	---	---	---					
RPLP0P2	0	broad.mit.edu	37	11	61405017	61405019	+	RNA	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:61405017_61405019delCTG	ENST00000496593.1	+	0	1621_1623					NR_002775.2																						acagctgctcctgctgctgctgc	0.557													8	228	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)acfs	p.H164fs	CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													15	171	---	---	---	---					
UVRAG	7405	broad.mit.edu	37	11	75694430	75694431	+	Splice_Site	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:75694430_75694431insA	ENST00000356136.3	+	8	940_941		c.e8-1		UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TATTTATTTAGAAAAAAAAAAG	0.302													7	208	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													22	412	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													8	570	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108559769	108559769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:108559769delT	ENST00000526794.1	+	7	987	c.955delT	c.(955-957)ttfs	p.F320fs	DDX10_ENST00000322536.3_Frame_Shift_Del_p.F320fs			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GAGCATTGTATTTTTTTCCAG	0.353			T	NUP98	AML*								7	1504	---	---	---	---					
IFT46	56912	broad.mit.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:118427683_118427685delATC	ENST00000264020.2	-	5	651_653	c.274_276delGAT	c.(274-276)del	p.D92del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	41					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478													7	377	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)cag>c	p.LQ386del	DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488													8	627	---	---	---	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:119210189_119210190insC	ENST00000445041.2	-	15	3378_3379	c.583_584insG	c.(583-585)catfs	p.H195fs	C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589													9	653	---	---	---	---					
ERC1	23085	broad.mit.edu	37	12	1192706	1192706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:1192706delT	ENST00000397203.2	+	3	1452	c.1046delT	c.(1045-1047)ctfs	p.L350fs	ERC1_ENST00000543086.3_Frame_Shift_Del_p.L350fs|ERC1_ENST00000360905.4_Frame_Shift_Del_p.L350fs|ERC1_ENST00000589028.1_Frame_Shift_Del_p.L350fs|ERC1_ENST00000355446.5_Frame_Shift_Del_p.L350fs|ERC1_ENST00000546231.2_Frame_Shift_Del_p.L350fs			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	350					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTAGAAAGCCTTTTGGAGCAG	0.408													7	3410	---	---	---	---					
TEAD4	7004	broad.mit.edu	37	12	3131163	3131163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:3131163delT	ENST00000359864.2	+	10	1067	c.877delT	c.(877-879)ttfs	p.F294fs	TEAD4_ENST00000397122.2_Frame_Shift_Del_p.F165fs|TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	294					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCCAATGCCTTTTTTCTTGT	0.542													9	2590	---	---	---	---					
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aafs	p.K354fs	DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	354	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAACAGGGGGAAAAAAAGATA	0.398													8	1586	---	---	---	---					
ETV6	2120	broad.mit.edu	37	12	12022502	12022502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:12022502delC	ENST00000396373.4	+	5	882	c.608delC	c.(607-609)tcfs	p.S203fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCCTCCGGTCCCCCCTGGAC	0.632			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								9	2191	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14766135	14766135	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:14766135delT	ENST00000261170.3	-	27	3274	c.3138delA	c.(3136-3138)aafs	p.K1046fs	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1046					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCCGTCTGGGTTTTTGGCTTC	0.428													7	1495	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													28	1654	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794610	55794610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:55794610delT	ENST00000379665.2	+	1	397	c.298delT	c.(298-300)ttfs	p.F101fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358													7	643	---	---	---	---					
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)del	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635													8	1407	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	987	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:23914687delT	ENST00000382298.3	-	10	3916	c.3328delA	c.(3328-3330)ttfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein 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)		AAGGCTTCAATTTTTTTTGCC	0.383													20	1396	---	---	---	---					
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475													7	385	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398													15	43	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													10	522	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													10	529	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													19	741	---	---	---	---					
CPNE6	9362	broad.mit.edu	37	14	24545608	24545608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:24545608delC	ENST00000397016.2	+	13	1409	c.1098delC	c.(1096-1098)atfs	p.I366fs	CPNE6_ENST00000537691.1_Frame_Shift_Del_p.I421fs|CPNE6_ENST00000216775.2_Frame_Shift_Del_p.I366fs			O95741	CPNE6_HUMAN	copine VI (neuronal)	366	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGCTCGAATCCCCCCCAACT	0.602													8	989	---	---	---	---					
PCK2	5106	broad.mit.edu	37	14	24572757	24572757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:24572757delT	ENST00000545054.2	+	10	2023	c.1105delT	c.(1105-1107)ttfs	p.F370fs	NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Frame_Shift_Del_p.F370fs|PCK2_ENST00000216780.4_Frame_Shift_Del_p.F504fs|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Frame_Shift_Del_p.F338fs			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	504					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CATGCGGCCCTTTTTTGGCTA	0.577													7	589	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gafs	p.E180fs	PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403													9	794	---	---	---	---					
SIX4	51804	broad.mit.edu	37	14	61190679	61190680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:61190679_61190680insC	ENST00000216513.4	-	1	172_173	c.113_114insG	c.(112-114)ggcfs	p.G38fs		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	38	Ala-rich.					nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTACCGCCGCGCCCCCCGCCAC	0.718													8	471	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													11	754	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													12	187	---	---	---	---					
GPR65	0	broad.mit.edu	37	14	88477554	88477555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:88477554_88477555insT	ENST00000267549.3	+	2	921_922	c.363_364insT	c.(361-366)aattttfs	p.NF121fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	121					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCCTTTGAAGTTTTTTTTCCT	0.426													9	1137	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)ttfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393													10	499	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													8	728	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)del	p.E47del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719													7	87	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													7	1393	---	---	---	---					
IGHV4OR15-8	0	broad.mit.edu	37	15	22473268	22473268	+	RNA	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:22473268delG	ENST00000557788.2	-	0	46																											ATCAGAGGCAGCCTCCCCTAT	0.582													12	486	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													7	394	---	---	---	---					
SNX33	257364	broad.mit.edu	37	15	75941777	75941779	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:75941777_75941779delGAT	ENST00000308527.5	+	1	1531_1533	c.334_336delGAT	c.(334-336)del	p.D116del		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	116	Poly-Asp.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTTGAGGAGGATGATGATGATG	0.626													7	704	---	---	---	---					
KIAA1024	23251	broad.mit.edu	37	15	79749456	79749456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:79749456delA	ENST00000305428.3	+	2	1042	c.967delA	c.(967-969)aafs	p.K323fs		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	323						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGTTCCTGACAAAAGGCGAGC	0.517													7	1272	---	---	---	---					
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:2260586_2260588delCAG	ENST00000328540.3	-	2	1231_1233	c.115_117delCTG	c.(115-117)del	p.L39del	BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CGGCcagcaccagcagcagcagc	0.660													8	331	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													53	1996	---	---	---	---					
GRIN2A	0	broad.mit.edu	37	16	9858693	9858693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:9858693delT	ENST00000396573.2	-	14	3017	c.2708delA	c.(2707-2709)acfs	p.N903fs	GRIN2A_ENST00000535259.1_Frame_Shift_Del_p.N746fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.N903fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.N903fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.N903fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.N903fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	903					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGGAAATGTTTTTGGCTGA	0.453													8	1524	---	---	---	---					
ABCC6P1	0	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													14	77	---	---	---	---					
KNOP1	400506	broad.mit.edu	37	16	19722724	19722724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:19722724delT	ENST00000219837.7	-	3	1035	c.957delA	c.(955-957)aafs	p.K319fs	KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1									p.G320fs*5(1)|p.K319N(1)									CCATGTTGCCTTTTTTTTCCA	0.562													7	720	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)aafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGGAGGTTGGGGGGGTGGG	0.577													10	1534	---	---	---	---					
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)del	p.Q113del	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.640													9	444	---	---	---	---					
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:29825016delC	ENST00000300797.6	+	2	815	c.641delC	c.(640-642)gcfs	p.A214fs	PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane		p.R217fs*12(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCCAATGGGGCCCCCCCCCGA	0.652													7	128	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													10	207	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													11	672	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													10	589	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													10	276	---	---	---	---					
ZCCHC14	23174	broad.mit.edu	37	16	87445610	87445612	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:87445610_87445612delTGG	ENST00000268616.4	-	12	2521_2523	c.2304_2306delCCA	c.(2302-2307)cat>ca	p.HH768del		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	768	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGCtgatggtggtggtggt	0.665													7	249	---	---	---	---					
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(382-387)aaaaaafs	p.KK128fs	TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	128					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446													8	184	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	574	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													7	35	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:56387404_56387406delTCC	ENST00000355701.3	-	21	4683_4685	c.3813_3815delGGA	c.(3811-3816)gaa>ga	p.EE1273del	BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1273	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													8	427	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													14	89	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													7	82	---	---	---	---					
ANKRD12	23253	broad.mit.edu	37	18	9256061	9256062	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr18:9256061_9256062insA	ENST00000383440.2	+	8	2984_2985	c.2727_2728insA	c.(2725-2730)gaaaaafs	p.EK909fs	ANKRD12_ENST00000262126.3_Frame_Shift_Ins_p.EK932fs|ANKRD12_ENST00000400020.3_Frame_Shift_Ins_p.EK909fs	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	932						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACTTGATGGAGAAAAAAAATAA	0.322													8	55	---	---	---	---					
HCN2	610	broad.mit.edu	37	19	615947	615949	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:615947_615949delCCG	ENST00000251287.2	+	8	2196_2198	c.2143_2145delCCG	c.(2143-2145)del	p.P721del	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	721	Pro-rich.				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTCTTCccgccgccgccgc	0.704													7	175	---	---	---	---					
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cgg>c	p.QR139del		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635													9	571	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													8	1143	---	---	---	---					
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)del	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601													10	1839	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	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													8	1259	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													16	1109	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaa>ga	p.EE1359del	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													11	189	---	---	---	---					
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569													9	610	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													9	536	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)ccfs	p.P244fs	CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	244					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632													8	503	---	---	---	---					
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aafs	p.K388fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413													7	775	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)cccfs	p.P49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728													8	233	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	1832	---	---	---	---					
CLIC6	54102	broad.mit.edu	37	21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	rs62213790	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	ENST00000360731.3	+	1	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggc>g	p.GVEAGVPAGDS259del	CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	259	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S269G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761													7	9	---	---	---	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gac>ga	p.DS550del	ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	550						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													12	360	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA 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													23	745	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	534	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:39917951delC	ENST00000337304.2	+	2	1282	c.400delC	c.(400-402)ccfs	p.P135fs	ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs|ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	135					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TAATAAGCAGCCCCCCCAGAC	0.527													8	1442	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.650													11	1106	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													7	485	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)caa>ca	p.QQ178del	TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													14	450	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|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													15	459	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	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	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor 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						7	197	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													7	490	---	---	---	---