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
DCPS	28960	broad.mit.edu	37	11	126174162	126174162	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:126174162T>A	ENST00000263579.4	+	1	516	c.187T>A	c.(187-189)Ttc>Atc	p.F63I	RP11-712L6.5_ENST00000524964.1_5'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	63					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CAAAATCATTTTCCTACACGG	0.547000													22	358					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618802	7618802	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:7618802C>T	ENST00000299492.4	+	5	772	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Silent_p.L16L	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	128				L -> I (in Ref. 2; AAH21714).	cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGAGTGTCCTCACAGACCAAG	0.512000													5	128					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	62					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTCAATTTTTCAACCACTGGG	0.433000													28	545					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49208355	49208355	+	Silent	SNP	C	C	T	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	278										large_intestine(5)|lung(2)|skin(1)	8						AATAGGACGACGTATTTGCTT	0.478000													19	567					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:150444672C>G	ENST00000401000.4	+	10	3235	c.3170C>G	c.(3169-3171)gCc>gGc	p.A1057G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1083	Poly-Gln.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAAGGGGGCCCCTATAGAA	0.532000													33	364					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208284	14208284	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K210K	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	218	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCCACGGCCTTGTTGTAGC	0.637000													22	322					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390448	45390448	+	Silent	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:45390448G>A	ENST00000371438.1	+	2	535	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RUNX2_ENST00000541979.1_Silent_p.Q127Q|RUNX2_ENST00000465038.2_Silent_p.Q59Q|RUNX2_ENST00000576263.1_Silent_p.Q59Q|RUNX2_ENST00000352853.5_Silent_p.Q127Q|RUNX2_ENST00000371436.6_Silent_p.Q59Q|RUNX2_ENST00000371432.3_Silent_p.Q45Q|RUNX2_ENST00000359524.5_Silent_p.Q45Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	59	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcaacagcagcagcagc	0.726000													9	359					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647000													7	344					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTTTAAACGTTCTAACAG	0.557000													12	380					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858390	15858390	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr21:15858390G>C	ENST00000285670.2	-	9	1343	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322*|SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	322					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGAGATGTCTGAGCTCAAGGA	0.403000													7	309					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512000													14	390					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:131665458G>C	ENST00000368648.3	-	10	1031	c.959C>G	c.(958-960)tCc>tGc	p.S320C	EBF3_ENST00000355311.5_Missense_Mutation_p.S329C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	329	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGATTTGTAGGAGAGGGTCAC	0.577000													6	226					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000439268.2_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	231					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCACTGACCTCAAGTGCACAC	0.647000													8	222					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													10	359					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63398868G>C	ENST00000398868.3	-	12	1459	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	395					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAATGGTCCAGAGCAAGTTGT	0.408000													9	453					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219694941A>T	ENST00000439262.2	-	4	413	c.318T>A	c.(316-318)gaT>gaA	p.D106E	PRKAG3_ENST00000529249.1_Missense_Mutation_p.D131E|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	131					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCACATCATCTGTGCTGG	0.647000													7	272					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													11	431					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G447R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTACAGTGCGGACGCCACGT	0.433000													16	422					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179819	211179819	+	Translation_Start_Site	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAAAAGAACCTGTCAAAATG	0.463000													37	985					1.22384e-17	1.3389e-17	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128599617	128599617	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371123.1_Silent_p.L958L|SMARCA1_ENST00000371121.3_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	970	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATACAAATCAAGAATCTAT	0.363000													13	518					0	0	1	0	0
RP11-204M4.2	0	broad.mit.edu	37	9	41962626	41962626	+	RNA	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:41962626C>T	ENST00000454645.1	-	0	878					NR_003670.1																						TACAGGAATCCCCTTTTGATT	0.353000													36	183					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCTGCCCATTGAGGGTCTC	0.612000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	298					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													24	158					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													28	168					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													10	373					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	55				GL -> AW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGTCCAGGCCCTGCGGGTAG	0.612000													51	604					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTCACAGCGGTGGAGGCCC	0.617000													32	725					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	344					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCTGCCCAGGTCTCAGCTC	0.612000													16	182					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	240					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs137873032	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:64530103G>A	ENST00000426828.1	+	0	923					NR_033416.1																						TGACTGCTTGGGACATGCAGG	0.388000													6	262					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:123855729C>T	ENST00000274008.3	+	5	1052	c.983C>T	c.(982-984)tCa>tTa	p.S328L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	328					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTATTTCTTCAACAACAAGA	0.343000													9	293					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													12	316					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856262	44856262	+	Silent	SNP	C	C	T	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	185	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCATCACCGACGTGCCTGGGC	0.682000													8	123					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362330T>A	ENST00000344327.3	-	3	1509	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	362					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACGGCTGAGATTTGGGCGACC	0.428000													33	856					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000													31	128					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:40061961G>A	ENST00000336649.4	+	26	4072	c.4072G>A	c.(4072-4074)Gcc>Acc	p.A1358T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A1352T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1352					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCATGGCCGCCAACTACCG	0.597000													18	367					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2																						ATACACCCAGACCACCACCAC	0.637000													8	290					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	273					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928116	32928116	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:32928116G>A	ENST00000567348.1	+	11	2156	c.1483G>A	c.(1483-1485)Ggt>Agt	p.G495S	ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495_splice|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S	NM_199357.1	NP_955389.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G495C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAAAGAAAGGTACATTTAC	0.294000													6	233					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													26	275					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660766	8660766	+	Silent	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:8660766C>G	ENST00000270328.4	-	11	1625	c.1359G>C	c.(1357-1359)ctG>ctC	p.L453L	ADAMTS10_ENST00000597188.1_Silent_p.L453L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCGGTTGTTCAGGCAGAGCC	0.592000													15	948					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296606	29296606	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	174					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGGAAGTCCACTTTGCCTT	0.502000													16	498					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													11	622					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													6	101					0.000442599	0.000442599	1	1	0
FN1	2335	broad.mit.edu	37	2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:216263993C>T	ENST00000354785.4	-	21	3704	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1	1112	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAACCAATTCTTGGAGCAGG	0.493000													13	502					0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10755436	10755436	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:10755436C>T	ENST00000473276.1	+	3	194	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000379542.5_Silent_p.F88F|TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGAAAATTCATGCCTGTAG	0.368000													21	355					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	465					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAATATCTATGATAAAC	0.363000													13	320					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82036258	82036258	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	214					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587000													27	713					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	94										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGAGACCATTCAAGGCTTCTG	0.483000													10	242					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N|UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	83					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCGCTGAAGACTATTCGTC	0.493000													27	652					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:7577094G>C	ENST00000420246.2	-	8	976	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000269305.4_Missense_Mutation_p.R282G|TP53_ENST00000445888.2_Missense_Mutation_p.R282G	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)			76	255					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													30	397					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	650					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTGTAGAAAAGCCATACAAAT	0.448000													21	587					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677782	10677782	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr18:10677782C>A	ENST00000302079.6	-	48	7514	c.7515G>T	c.(7513-7515)atG>atT	p.M2505I	PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M360I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2568I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M525I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2593I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2568						integral to membrane	ion channel activity										TGCCTGCTATCATTTTAGCGA	0.348000													26	470					3.01185e-09	3.13428e-09	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101362468	101362468	+	Splice_Site	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362468T>A	ENST00000344327.3	-	3	1371	c.945_splice	c.e3-1	p.N316_splice	TRPC6_ENST00000532133.1_Splice_Site_p.N316_splice|TRPC6_ENST00000360497.4_Splice_Site_p.N316_splice|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	316					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGTAGTCATTCTAGGAAAA	0.368000													12	319					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	205				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAAGCGGTACACCGCGGAGGA	0.607000													7	321					0	0	1	0	0
PSMB1	5689	broad.mit.edu	37	6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	142					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|interspecies interaction between organisms|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 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	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCTTCTTCATCAAGTCCACCG	0.423000													16	441					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121115981	121115981	+	RNA	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:121115981C>T	ENST00000437515.1	-	0	329																											CCACGGCCAACGTTCGCATTG	0.527000													6	46					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577000													10	590					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	364						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCACCAGGCCGGCGCTCCTTG	0.652000													74	632					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429571	135429571	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1236					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATCTGCCACATATCGTGT	0.473000													68	1476					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	92					3.59834e-05	3.62667e-05	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													6	238					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144823868	144823868	+	Missense_Mutation	SNP	T	T	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:144823868T>G	ENST00000440491.2	+	9	1135	c.1135T>G	c.(1135-1137)Tat>Gat	p.Y379D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GGACTCACTGTATAGATGTTA	0.478000													8	250					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	162						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTGCAGCGGGCCTGCCAACTT	0.428000													25	256					1.55469e-16	1.68645e-16	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	802					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTTTGCTGGTAGAAAGAGA	0.363000													39	861					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G	rs145942024	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942																											GAAGACACTCCTGGAGGAGTC	0.562000													5	99					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619972	619972	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:619972C>T	ENST00000588649.2	-	12	2956	c.2872G>A	c.(2872-2874)Ggc>Agc	p.G958S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	958	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.G958S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		GCGGCCACGCCGCTGTACACG	0.701000													6	87					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:141759383C>T	ENST00000475668.2	+	32	3985	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGGGATGCGGGTCATCCT	0.512000													17	310					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													11	145					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	524					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423000													42	1060					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													6	245					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													14	55					1.01871e-10	1.07765e-10	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													18	491					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000													7	102					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622000													23	468					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	243					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCAGCCAGTGAGGGGGACGC	0.642000													8	429					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033728	55033728	+	Silent	SNP	C	C	T	rs112583744		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:55033728C>T	ENST00000371336.3	+	6	2487	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	CASS4_ENST00000434344.1_Silent_p.A325A|CASS4_ENST00000360314.3_Silent_p.A762A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	762					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGCCCTGCCGCGCTGGGGC	0.637000													7	152					0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126174162	126174162	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:126174162T>A	ENST00000263579.4	+	1	516	c.187T>A	c.(187-189)Ttc>Atc	p.F63I	RP11-712L6.5_ENST00000524964.1_5'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	63					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CAAAATCATTTTCCTACACGG	0.547000													22	358					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618802	7618802	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:7618802C>T	ENST00000299492.4	+	5	772	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PPFIBP2_ENST00000528883.1_Silent_p.L16L|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	128				L -> I (in Ref. 2; AAH21714).	cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGAGTGTCCTCACAGACCAAG	0.512000													5	128					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													24	487					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	62					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTCAATTTTTCAACCACTGGG	0.433000													28	545					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49208355	49208355	+	Silent	SNP	C	C	T	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	278										large_intestine(5)|lung(2)|skin(1)	8						AATAGGACGACGTATTTGCTT	0.478000													19	567					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:150444672C>G	ENST00000401000.4	+	10	3235	c.3170C>G	c.(3169-3171)gCc>gGc	p.A1057G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1083	Poly-Gln.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAAGGGGGCCCCTATAGAA	0.532000													33	364					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													25	369					0	0	1	0	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092219	29092219	+	RNA	SNP	C	C	T	rs141516940	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:29092219C>T	ENST00000569815.1	-	0	296					NR_047567.1																						CATCCTCAGGCGAGTGGCAGC	0.552000													8	112					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14208284	14208284	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K210K|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	218	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCCACGGCCTTGTTGTAGC	0.637000													22	322					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390448	45390448	+	Silent	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:45390448G>A	ENST00000371438.1	+	2	535	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RUNX2_ENST00000371436.6_Silent_p.Q59Q|RUNX2_ENST00000465038.2_Silent_p.Q59Q|RUNX2_ENST00000371432.3_Silent_p.Q45Q|RUNX2_ENST00000541979.1_Silent_p.Q127Q|RUNX2_ENST00000576263.1_Silent_p.Q59Q|RUNX2_ENST00000359524.5_Silent_p.Q45Q|RUNX2_ENST00000352853.5_Silent_p.Q127Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	59	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcaacagcagcagcagc	0.726000													9	359					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTTTAAACGTTCTAACAG	0.557000													12	380					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858390	15858390	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr21:15858390G>C	ENST00000285670.2	-	9	1343	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154*|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	322					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGAGATGTCTGAGCTCAAGGA	0.403000													7	309					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													8	174					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512000													14	390					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:131665458G>C	ENST00000368648.3	-	10	1031	c.959C>G	c.(958-960)tCc>tGc	p.S320C	EBF3_ENST00000355311.5_Missense_Mutation_p.S329C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	329	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGATTTGTAGGAGAGGGTCAC	0.577000													6	226					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													10	359					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:63398868G>C	ENST00000398868.3	-	12	1459	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	395					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAATGGTCCAGAGCAAGTTGT	0.408000													9	453					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:219694941A>T	ENST00000439262.2	-	4	413	c.318T>A	c.(316-318)gaT>gaA	p.D106E	PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E|PRKAG3_ENST00000529249.1_Missense_Mutation_p.D131E|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	131					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCACATCATCTGTGCTGG	0.647000													7	272					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													11	431					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G447R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTACAGTGCGGACGCCACGT	0.433000													16	422					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179819	211179819	+	Translation_Start_Site	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAAAAGAACCTGTCAAAATG	0.463000													37	985					1.61788e-16	1.70085e-16	1	1	0
GOLGA6L7P	0	broad.mit.edu	37	15	29092234	29092234	+	RNA	SNP	C	C	A	rs150917533	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:29092234C>A	ENST00000569815.1	-	0	281					NR_047567.1																						GGCAGCCCCCCGAAGTGGTTG	0.542000													7	111					9.16793e-09	9.31947e-09	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128599617	128599617	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371123.1_Silent_p.L958L|SMARCA1_ENST00000371121.3_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	970	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATACAAATCAAGAATCTAT	0.363000													13	518					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCTGCCCATTGAGGGTCTC	0.612000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	298					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													24	158					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928116	32928116	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:32928116G>A	ENST00000567348.1	+	11	2156	c.1483G>A	c.(1483-1485)Ggt>Agt	p.G495S	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S|ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306_splice	NM_199357.1	NP_955389.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G495C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAAAGAAAGGTACATTTAC	0.294000													6	233					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													10	373					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	55				GL -> AW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGTCCAGGCCCTGCGGGTAG	0.612000													51	604					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTCACAGCGGTGGAGGCCC	0.617000													32	725					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	344					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCTGCCCAGGTCTCAGCTC	0.612000													16	182					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	240					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs137873032	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:64530103G>A	ENST00000426828.1	+	0	923					NR_033416.1																						TGACTGCTTGGGACATGCAGG	0.388000													6	262					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:123855729C>T	ENST00000274008.3	+	5	1052	c.983C>T	c.(982-984)tCa>tTa	p.S328L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	328					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTATTTCTTCAACAACAAGA	0.343000													9	293					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													12	316					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48131367	48131367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:48131367G>A	ENST00000405493.2	-	28	2838	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R810*|RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R877*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R919*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R877*|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R919*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	877					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TCCAGCTCTCGGGAGAGGCGG	0.647000													4	97					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856262	44856262	+	Silent	SNP	C	C	T	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	185	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCATCACCGACGTGCCTGGGC	0.682000													8	123					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													18	473					5.34276e-22	5.71442e-22	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:101362330T>A	ENST00000344327.3	-	3	1509	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	362					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACGGCTGAGATTTGGGCGACC	0.428000													33	856					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													7	195					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000													31	128					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:40061961G>A	ENST00000336649.4	+	26	4072	c.4072G>A	c.(4072-4074)Gcc>Acc	p.A1358T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A1352T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1352					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCATGGCCGCCAACTACCG	0.597000													18	367					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	273					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													17	76					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82036258	82036258	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	214					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587000													27	713					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8660766	8660766	+	Silent	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:8660766C>G	ENST00000270328.4	-	11	1625	c.1359G>C	c.(1357-1359)ctG>ctC	p.L453L	ADAMTS10_ENST00000597188.1_Silent_p.L453L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCGGTTGTTCAGGCAGAGCC	0.592000													15	948					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296606	29296606	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	174					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGGAAGTCCACTTTGCCTT	0.502000													16	498					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:216263993C>T	ENST00000354785.4	-	21	3704	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1	1112	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAACCAATTCTTGGAGCAGG	0.493000													13	502					0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10755436	10755436	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:10755436C>T	ENST00000473276.1	+	3	194	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	TMEM14B_ENST00000379542.5_Silent_p.F88F|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000467317.1_Silent_p.F88F|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000481240.1_Silent_p.F54F			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGAAAATTCATGCCTGTAG	0.368000													21	355					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	465					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAATATCTATGATAAAC	0.363000													13	320					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	83					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCGCTGAAGACTATTCGTC	0.493000													27	652					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:7577094G>C	ENST00000420246.2	-	8	976	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000269305.4_Missense_Mutation_p.R282G|TP53_ENST00000359597.4_Missense_Mutation_p.R282G	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)			76	255					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677782	10677782	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr18:10677782C>A	ENST00000302079.6	-	48	7514	c.7515G>T	c.(7513-7515)atG>atT	p.M2505I	PIEZO2_ENST00000538948.1_Missense_Mutation_p.M525I|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.M2568I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M360I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2593I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2568						integral to membrane	ion channel activity										TGCCTGCTATCATTTTAGCGA	0.348000													26	470					3.01185e-09	3.11309e-09	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101362468	101362468	+	Splice_Site	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:101362468T>A	ENST00000344327.3	-	3	1371	c.945_splice	c.e3-1	p.N316_splice	TRPC6_ENST00000360497.4_Splice_Site_p.N316_splice|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site_p.N316_splice	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	316					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGTAGTCATTCTAGGAAAA	0.368000													12	319					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													11	426					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	205				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAAGCGGTACACCGCGGAGGA	0.607000													7	321					0	0	1	0	0
PSMB1	5689	broad.mit.edu	37	6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	142					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|interspecies interaction between organisms|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 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	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCTTCTTCATCAAGTCCACCG	0.423000													16	441					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													33	874					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	650					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTGTAGAAAAGCCATACAAAT	0.448000													21	587					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577000													10	590					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	364						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCACCAGGCCGGCGCTCCTTG	0.652000													74	632					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429571	135429571	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1236					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATCTGCCACATATCGTGT	0.473000													68	1476					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	92					3.59834e-05	3.62783e-05	1	1	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													6	238					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	162						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTGCAGCGGGCCTGCCAACTT	0.428000													25	256					1.55469e-16	1.64851e-16	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	802					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTTTGCTGGTAGAAAGAGA	0.363000													39	861					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000439268.2_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	231					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCACTGACCTCAAGTGCACAC	0.647000													8	222					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619972	619972	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:619972C>T	ENST00000588649.2	-	12	2956	c.2872G>A	c.(2872-2874)Ggc>Agc	p.G958S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	958	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.G958S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		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)		GCGGCCACGCCGCTGTACACG	0.701000													6	87					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:141759383C>T	ENST00000475668.2	+	32	3985	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGGGATGCGGGTCATCCT	0.512000													17	310					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	524					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423000													42	1060					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													6	245					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	94										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGAGACCATTCAAGGCTTCTG	0.483000													10	242					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	A	C	rs75392608		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:39262083A>C	ENST00000391415.1	+	1	500	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667000													7	131					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													18	491					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622000													23	468					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	243					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCAGCCAGTGAGGGGGACGC	0.642000													8	429					0	0	1	0	0
DDX11L1	0	broad.mit.edu	37	1	13417	13418	+	RNA	INS	-	-	GAGA			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:13417_13418insGAGA	ENST00000456328.2	+	0	665_666					NR_046018.2|NR_051986.1																						TCCACCACCCCGAGATCACATT	0.559													14	162	---	---	---	---					
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													13	517	---	---	---	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(370-375)tagtttfs	p.*F124fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													9	1353	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)ttc>t	p.SF1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													10	262	---	---	---	---					
PABPC4	8761	broad.mit.edu	37	1	40028016	40028016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:40028016delG	ENST00000372857.3	-	13	2485	c.1693delC	c.(1693-1695)agfs	p.Q565fs	PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTGTTCCTGGGGGGGTGCT	0.602													7	691	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													8	402	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													7	441	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													25	349	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													8	1306	---	---	---	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)tafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								12	655	---	---	---	---					
GBP2	2634	broad.mit.edu	37	1	89587526	89587528	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:89587526_89587528delCCA	ENST00000370466.3	-	2	390_392	c.122_124delTGG	c.(121-126)gcg>g	p.VA41del		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	41					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCACAATCGCCACCACCACCAC	0.527													7	675	---	---	---	---					
CDC7	8317	broad.mit.edu	37	1	91967356	91967357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:91967356_91967357insA	ENST00000428239.1	+	2	342_343	c.83_84insA	c.(82-84)taafs	p.*28fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAACG	0.406													9	630	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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	1497	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				18	81	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													7	389	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284													8	113	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	1376	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													9	964	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)ccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	392	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													7	1291	---	---	---	---					
NR1I3	0	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:161202999_161203000insG	ENST00000367983.4	-	4	661_662	c.367_368insC	c.(367-369)ccafs	p.P123fs	NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													9	1634	---	---	---	---					
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													14	374	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185880816	185880816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:185880816delA	ENST00000271588.4	+	6	1033	c.804delA	c.(802-804)atfs	p.I268fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.I268fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	268					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAAGCTGATAAAAAAGGGAT	0.388													7	1277	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276542	186276544	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:186276542_186276544delCTC	ENST00000445192.2	+	7	1736_1738	c.1691_1693delCTC	c.(1690-1695)acc>a	p.TP564del	PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	564	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.640													23	967	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcfs	p.A170fs	ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													13	433	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													18	460	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	853	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	875	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)cat>ca	p.HH759del		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													9	495	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74451994	74451994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:74451994delT	ENST00000394019.2	-	28	3616	c.3219delA	c.(3217-3219)aafs	p.K1073fs	SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1089						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGTGGGCCCCTTTTTTTCTCT	0.517													8	1233	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95522922	95522924	+	RNA	DEL	ACT	ACT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:95522922_95522924delACT	ENST00000432432.2	-	0	103_105					NR_040113.1																						CATGGCGGTGACTACTTCTCAGA	0.655													8	368	---	---	---	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:108863685delA	ENST00000376700.1	+	1	35	c.35delA	c.(34-36)gafs	p.E12fs	SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													7	695	---	---	---	---					
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:110301827_110301828insT	ENST00000356688.4	-	12	1821_1822	c.1506_1507insA	c.(1504-1509)aatagafs	p.NR502fs	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													8	291	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													7	465	---	---	---	---					
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:128046944_128046946delTCT	ENST00000493187.2	-	6	1060_1062	c.597_599delAGA	c.(595-600)gag>ga	p.EE199del	ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	263					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	346	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128712656	128712656	+	Frame_Shift_Del	DEL	C	C	-	rs112429524		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:128712656delC	ENST00000357702.5	-	16	2535	c.2404delG	c.(2404-2406)tgfs	p.V802fs	SAP130_ENST00000259235.3_Frame_Shift_Del_p.V767fs|SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	767	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTGCCACCCACAGTGACTGAT	0.532													41	453	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													12	483	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000337207.5_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													7	87	---	---	---	---					
BZW1	9689	broad.mit.edu	37	2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(844-849)ataaaafs	p.IK282fs	BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371													7	280	---	---	---	---					
NBEAL1	65065	broad.mit.edu	37	2	204000806	204000807	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:204000806_204000807insTG	ENST00000449802.1	+	27	4466_4467	c.4133_4134insTG	c.(4132-4134)agafs	p.R1378fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1378							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGTGGAATTGACTCATGTG	0.436													28	371	---	---	---	---					
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)cafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													11	2583	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449364	219449364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219449364delT	ENST00000273064.6	+	4	725	c.350delT	c.(349-351)ctfs	p.L117fs	RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATCCCACTTTTTTTGTAC	0.413													7	1391	---	---	---	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tct>tc	p.SS69del	TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													11	1237	---	---	---	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)caa>ca	p.QQ439del	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													11	548	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													11	718	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													8	71	---	---	---	---					
AC024560.3	0	broad.mit.edu	37	3	197346770	197346771	+	RNA	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:197346770_197346771insA	ENST00000418868.1	-	0	685					NR_003266.2																						CTAAAAGAAAGAAAAAAAAAGG	0.406													9	154	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:38691476delC	ENST00000261438.5	+	4	976	c.671delC	c.(670-672)tcfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423													7	914	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)tafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													13	456	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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													15	350	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	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)		gtactcctcttcctcctcctcct	0.606													10	565	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													10	562	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													10	572	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													9	495	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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													8	576	---	---	---	---					
AC026703.1	0	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													7	543	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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													22	92	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	1506	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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													8	285	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													9	74	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:172578611delT	ENST00000231668.9	+	3	324	c.220delT	c.(220-222)ttfs	p.F76fs	BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													15	500	---	---	---	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:179149920delT	ENST00000247461.4	+	11	1498	c.1298delT	c.(1297-1299)atfs	p.I433fs	CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs	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													9	542	---	---	---	---					
BTNL8	79908	broad.mit.edu	37	5	180374580	180374580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:180374580delT	ENST00000231229.4	+	4	976	c.742delT	c.(742-744)ttfs	p.F249fs	BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F133fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000533815.2_Frame_Shift_Del_p.F65fs|BTNL8_ENST00000340184.4_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F124fs|BTNL8_ENST00000505126.1_Frame_Shift_Del_p.F42fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	249						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGCCTATTTTTTGGCAT	0.448													7	1849	---	---	---	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)del	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													8	475	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327900	16327901	+	In_Frame_Ins	INS	-	-	TGC	rs66949327		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:16327900_16327901insTGC	ENST00000244769.4	-	8	1577_1578	c.641_642insGCA	c.(640-642)cca>cGCAca	p.214_214P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgatg	0.668													9	116	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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	457	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)tgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													10	470	---	---	---	---					
HIST1H1A	3024	broad.mit.edu	37	6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483													13	1694	---	---	---	---					
OR2J2	26707	broad.mit.edu	37	6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													9	748	---	---	---	---					
GABBR1	0	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													8	565	---	---	---	---					
HLA-G	3135	broad.mit.edu	37	6	29797196	29797196	+	Splice_Site	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:29797196delC	ENST00000428701.1	+	5	799	c.619_splice	c.e5-1	p.D207_splice	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Splice_Site_p.D207_splice|HLA-G_ENST00000376818.3_Splice_Site_p.N115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.D212_splice	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCTTTCAGACCCCCCCAAGA	0.537													7	1125	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31973891	31973891	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:31973891delT	ENST00000342991.6	+	0	479					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										cttaaacaaattttttttttg	0.493													7	146	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													19	806	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	1381	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411													9	1111	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													9	591	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90556398delT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418													10	66	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:127804080delT	ENST00000556132.1	-	5	2399	c.1535delA	c.(1534-1536)agfs	p.K512fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	512						integral to membrane											CTGTTGAGCCTTTTTTTCAGA	0.294													7	441	---	---	---	---					
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)agfs	p.K141fs	REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													7	1294	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)ccfs	p.P969fs	SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473													9	1262	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													9	87	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													7	52	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								8	311	---	---	---	---					
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aafs	p.K342fs	CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTAAATAACATTTTTTTTGAA	0.398													8	981	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													9	1679	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													7	359	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:100482040_100482042delAGG	ENST00000388793.4	+	7	1029_1031	c.809_811delAGG	c.(808-813)cag>c	p.QE270del	SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	270	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													10	210	---	---	---	---					
WASL	8976	broad.mit.edu	37	7	123332839	123332841	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:123332839_123332841delAGG	ENST00000223023.4	-	9	1239_1241	c.907_909delCCT	c.(907-909)del	p.P303del		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	303	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P303A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCCCTagcaggaggaggagga	0.616													8	594	---	---	---	---					
TRBV7-8	0	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88																											TAGTCATcatacacacacacac	0.441													19	376	---	---	---	---					
FAM66D	0	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													17	287	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-	rs137989738		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)del	p.S745del	DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													8	329	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													14	782	---	---	---	---					
NUGGC	389643	broad.mit.edu	37	8	27888775	27888776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:27888775_27888776insT	ENST00000413272.2	-	15	2034_2035	c.1892_1893insA	c.(1891-1893)attfs	p.I631fs	NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.I631fs	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		GGATCAGGAAATTTTTTTTGCA	0.455													8	1079	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aafs	p.K1129fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	1359	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					9	2244	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													9	867	---	---	---	---					
NBN	4683	broad.mit.edu	37	8	90967512	90967512	+	Splice_Site	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:90967512delT	ENST00000265433.3	-	10	1550	c.1397_splice	c.e10+1	p.R466_splice	NBN_ENST00000409330.1_Splice_Site_p.R384_splice	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	466					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAACAGACCTTTTTTTGGTA	0.338								Homologous recombination					10	877	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517													8	860	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100654474	100654474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:100654474delA	ENST00000358544.2	+	34	5842	c.5731delA	c.(5731-5733)aafs	p.K1912fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1912					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTTCAGGGAAAAAAATAGG	0.458													7	863	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)agafs	p.R254fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													9	408	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								8	1097	---	---	---	---					
EQTN	54586	broad.mit.edu	37	9	27296738	27296739	+	Splice_Site	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:27296738_27296739insA	ENST00000380032.3	-	2	160		c.e2-2		EQTN_ENST00000380031.1_Splice_Site|EQTN_ENST00000537675.1_Splice_Site|EQTN_ENST00000484994.1_5'UTR	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated									p.?(1)									TAGGCAATGCTAAAAAAAAGTA	0.322													7	254	---	---	---	---					
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs150805048		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:37424907_37424908insG	ENST00000607784.1	+	2	154_155	c.149_150insG	c.(148-150)gggfs	p.G50fs	GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658													7	370	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													7	267	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													8	1833	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaa>ga	p.EE916del	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													7	694	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													17	56	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109689690	109689690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:109689690delC	ENST00000277225.5	+	3	3786	c.3497delC	c.(3496-3498)tcfs	p.S1166fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCCAAGGCTCCCCCCGGCCA	0.542													7	1199	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													8	25	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													10	116	---	---	---	---					
ST8SIA6	338596	broad.mit.edu	37	10	17363132	17363132	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:17363132delT	ENST00000377602.4	-	8	1016	c.942delA	c.(940-942)aafs	p.K314fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	314					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CAGTCACACCTTTAGTTCTCC	0.438													7	1415	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													12	308	---	---	---	---					
SYNPO2L	79933	broad.mit.edu	37	10	75406948	75406948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:75406948delA	ENST00000394810.2	-	4	2611	c.2462delT	c.(2461-2463)tcfs	p.F821fs	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	821	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCCTGGGGGAAAAAGGGAGA	0.592													12	928	---	---	---	---					
ZNF518A	9849	broad.mit.edu	37	10	97918856	97918856	+	RNA	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:97918856delA	ENST00000534948.1	+	0	3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTCAGAACAAAAAAAAACT	0.348													8	299	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													7	1190	---	---	---	---					
ADD3	120	broad.mit.edu	37	10	111893349	111893350	+	Frame_Shift_Ins	INS	-	-	A	rs149355298		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:111893349_111893350insA	ENST00000277900.8	+	14	2363_2364	c.1998_1999insA	c.(1996-2001)aaaaaafs	p.KK666fs	ADD3_ENST00000356080.4_Frame_Shift_Ins_p.KK698fs|ADD3_ENST00000360162.3_Frame_Shift_Ins_p.KK666fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	698						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.N698K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGAAAAAGAACAAAAAAAAGGA	0.337													10	682	---	---	---	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)acfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								14	1592	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)del	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													8	839	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													18	137	---	---	---	---					
CCDC73	493860	broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:32635951delT	ENST00000335185.5	-	16	1956	c.1913delA	c.(1912-1914)atfs	p.N638fs		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	638								p.N638fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313													7	237	---	---	---	---					
PHF21A	51317	broad.mit.edu	37	11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:46001356_46001358delGTG	ENST00000257821.4	-	6	936_938	c.313_315delCAC	c.(313-315)del	p.H105del	PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488													7	410	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													7	1393	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000341307.2_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													7	253	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													13	848	---	---	---	---					
NDUFV1	4723	broad.mit.edu	37	11	67376194	67376195	+	Splice_Site	DEL	GT	GT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:67376194_67376195delGT	ENST00000322776.6	+	3	479		c.e3+1		NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CAGATGGCAGGTGTGTGTGTGG	0.599													7	604	---	---	---	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)cag>c	p.QE94del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	94					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													7	262	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													13	27	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								13	835	---	---	---	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:119210189_119210190insC	ENST00000445041.2	-	15	3378_3379	c.583_584insG	c.(583-585)catfs	p.H195fs	MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs	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													8	494	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)ggc>g	p.EG444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.660													7	254	---	---	---	---					
NFRKB	4798	broad.mit.edu	37	11	129752496	129752496	+	Frame_Shift_Del	DEL	T	T	-	rs149369172		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:129752496delT	ENST00000446488.3	-	9	1035	c.932delA	c.(931-933)agfs	p.K311fs	NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	311	Lys-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCTTAACCTTTTTTTTAAG	0.438													7	650	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													10	336	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													9	49	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													15	1037	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)ctfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378													8	860	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs75456529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)ttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													12	913	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)agfs	p.K1033fs	MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557													10	627	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)atafs	p.I212fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317													7	922	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													17	1220	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	1333	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:123794283delT	ENST00000420886.2	-	25	3415	c.3416delA	c.(3415-3417)atfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388													9	648	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549614	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr13:46549613_46549614delCT	ENST00000242848.4	-	12	2620_2621	c.2272_2273delAG	c.(2272-2274)gfs	p.R758fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctct	0.530													8	494	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													12	355	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													7	1263	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	424	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gafs	p.E180fs	PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs	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													10	1008	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	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													8	882	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)del	p.E321del	SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616													8	880	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													9	1291	---	---	---	---					
IGHV3-38	0	broad.mit.edu	37	14	106866725	106866726	+	RNA	DEL	CC	CC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr14:106866725_106866726delCC	ENST00000390618.2	-	0	124																											CACAGAGACACCAAGGTCAGAA	0.520													7	1020	---	---	---	---					
CHEK2P2	0	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1																						GTTACAACCTGtttttttttt	0.423													7	271	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													7	1236	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													9	310	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4162-4167)ataaaafs	p.IK1388fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													32	812	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	189	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					7	532	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													7	756	---	---	---	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													9	5065	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													9	139	---	---	---	---					
FAM57B	83723	broad.mit.edu	37	16	30036942	30036942	+	Frame_Shift_Del	DEL	G	G	-	rs140294527	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:30036942delG	ENST00000564806.1	-	3	540	c.495delC	c.(493-495)ccfs	p.P165fs	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CACGGGGTGAGGGGGGGATGA	0.632													7	466	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													7	561	---	---	---	---					
TOX3	27324	broad.mit.edu	37	16	52473513	52473515	+	In_Frame_Del	DEL	TGC	TGC	-	rs71819850		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:52473513_52473515delTGC	ENST00000219746.9	-	7	1637_1639	c.1353_1355delGCA	c.(1351-1356)caa>ca	p.QQ453del	TOX3_ENST00000407228.3_In_Frame_Del_p.QQ448del	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	453	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ctgttgttgttgctgctgctgct	0.552													8	146	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	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													12	770	---	---	---	---					
CMTM1	113540	broad.mit.edu	37	16	66603930	66603930	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:66603930delT	ENST00000379500.2	+	2	591	c.524delT	c.(523-525)gtfs	p.V175fs	CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Del_p.V175fs|CMTM1_ENST00000528324.1_Frame_Shift_Del_p.V58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Del_p.V58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TGCATTGTCGTTTTTTTTATT	0.348													8	1128	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													12	675	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													14	614	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													7	729	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4442801	4442801	+	Frame_Shift_Del	DEL	T	T	-	rs78578064	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:4442801delT	ENST00000254718.4	-	26	4202	c.3896delA	c.(3895-3897)agfs	p.K1299fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1299	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGCCTTGCCTTTTTCCGTGC	0.582													9	1679	---	---	---	---					
KSR1	8844	broad.mit.edu	37	17	25910015	25910016	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:25910015_25910016insC	ENST00000398988.3	+	5	898_899	c.453_454insC	c.(451-456)acccccfs	p.TP151fs	KSR1_ENST00000319524.6_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000268763.6_Frame_Shift_Ins_p.TP151fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	286					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACCACGGACGCCCCCCCCACC	0.678													8	116	---	---	---	---					
MLLT6	4302	broad.mit.edu	37	17	36873776	36873777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:36873776_36873777insC	ENST00000325718.7	+	11	1834_1835	c.1743_1744insC	c.(1741-1746)ggccccfs	p.GP581fs	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	581					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCCTGGGGCCCCCAGGGAC	0.653			T	MLL	AL								15	417	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aaafs	p.K162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													18	973	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													9	104	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61899155	61899157	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:61899155_61899157delCTC	ENST00000427159.2	-	15	2167_2169	c.1522_1524delGAG	c.(1522-1524)del	p.E508del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	508					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGTGGATTCTCCTCCTCCTCC	0.537													8	1105	---	---	---	---					
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)aaafs	p.K458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381													8	374	---	---	---	---					
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:4454085delT	ENST00000301281.6	-	2	213	c.89delA	c.(88-90)agfs	p.K30fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													8	1208	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)ttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													11	79	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													11	978	---	---	---	---					
ELAVL3	1995	broad.mit.edu	37	19	11577605	11577605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:11577605delC	ENST00000359227.3	-	2	471	c.47delG	c.(46-48)gcfs	p.G16fs	ELAVL3_ENST00000438662.2_Frame_Shift_Del_p.G16fs|CTC-398G3.6_ENST00000585656.1_Frame_Shift_Del_p.G170fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						gccggccgggcccccccccAC	0.652													7	135	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													11	979	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													7	965	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													12	155	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													8	1704	---	---	---	---					
LIPE-AS1	0	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						TGAGTATGTATGTGTGTGTGTG	0.505													7	167	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													12	977	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)del	p.L394del	FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													19	410	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													11	408	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)ccfs	p.P244fs	CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs			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	574	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			12	415	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	1438	---	---	---	---					
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:25422397delA	ENST00000262460.4	+	6	601	c.507delA	c.(505-507)ttfs	p.L169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299													7	396	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gca>gc	p.AG104del	FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													8	598	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35190622	35190622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr21:35190622delA	ENST00000381318.3	+	23	3067	c.2779delA	c.(2779-2781)aafs	p.K928fs	ITSN1_ENST00000399349.1_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.K886fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.K928fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.K923fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.K923fs|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	928	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTGGAGAGCCAAAAAAGACAA	0.433													7	568	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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													7	904	---	---	---	---					
VCX3B	0	broad.mit.edu	37	X	8434288	8434288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:8434288delA	ENST00000381032.1	+	3	912	c.605delA	c.(604-606)gafs	p.E202fs	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Frame_Shift_Del_p.E170fs|VCX3B_ENST00000444481.1_Frame_Shift_Del_p.E172fs|VCX3B_ENST00000440654.2_Frame_Shift_Del_p.E152fs	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CAGGTGGAGGAACCACTGAGT	0.567													9	2528	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													10	531	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360589	70360591	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:70360589_70360591delAGC	ENST00000333646.6	+	42	6357_6359	c.6158_6160delAGC	c.(6157-6162)gag>g	p.EQ2053del	MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del|MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2050	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)					ATCCTACCTGagcagcagcagca	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	763	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	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	366	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	841	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)cgfs	p.P364fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607													7	568	---	---	---	---					
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)ttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383													18	1447	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)agfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532													11	2019	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													8	846	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													16	677	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)ttc>t	p.SF1091del	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													10	262	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													9	1418	---	---	---	---					
PABPC4	8761	broad.mit.edu	37	1	40028016	40028016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:40028016delG	ENST00000372857.3	-	13	2485	c.1693delC	c.(1693-1695)agfs	p.Q565fs	PABPC4_ENST00000372858.3_Frame_Shift_Del_p.Q581fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.Q536fs|PABPC4_ENST00000372856.3_Frame_Shift_Del_p.Q552fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTGTTCCTGGGGGGGTGCT	0.602													7	691	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													8	1306	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													8	186	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.4	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)cgg>c	p.LALR31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													10	33	---	---	---	---					
GBP2	2634	broad.mit.edu	37	1	89587526	89587528	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:89587526_89587528delCCA	ENST00000370466.3	-	2	390_392	c.122_124delTGG	c.(121-126)gcg>g	p.VA41del		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	41					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCACAATCGCCACCACCACCAC	0.527													7	675	---	---	---	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													9	784	---	---	---	---					
SLC16A4	9122	broad.mit.edu	37	1	110906427	110906427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:110906427delA	ENST00000369779.4	-	9	1674	c.1425delT	c.(1423-1425)ttfs	p.F475fs	SLC16A4_ENST00000369781.4_Frame_Shift_Del_p.F307fs|SLC16A4_ENST00000472422.2_Frame_Shift_Del_p.F427fs|SLC16A4_ENST00000437429.2_Frame_Shift_Del_p.L372fs|SLC16A4_ENST00000541986.1_Frame_Shift_Del_p.F413fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	475						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CCAATGGTACAAAAAAAAAGG	0.388													19	566	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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	1497	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													13	163	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													10	68	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284													8	113	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													13	130	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145115659	145115666	+	RNA	DEL	ATTTTTAA	ATTTTTAA	-	rs11278959		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:145115659_145115666delATTTTTAA	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CATTTTGGTTATTTTTAATGCCTTAATA	0.327													71	234	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													9	964	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				17	492	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)agafs	p.R2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.520													36	876	---	---	---	---					
NR1I3	0	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:161202999_161203000insG	ENST00000367983.4	-	4	661_662	c.367_368insC	c.(367-369)ccafs	p.P123fs	NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													9	1634	---	---	---	---					
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													14	374	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	185880816	185880816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:185880816delA	ENST00000271588.4	+	6	1033	c.804delA	c.(802-804)atfs	p.I268fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.I268fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	268					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAAGCTGATAAAAAAGGGAT	0.388													7	1277	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													10	196	---	---	---	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcfs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													13	433	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													18	460	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	853	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	875	---	---	---	---					
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				8	589	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													16	1076	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74451994	74451994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:74451994delT	ENST00000394019.2	-	28	3616	c.3219delA	c.(3217-3219)aafs	p.K1073fs	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1089						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGTGGGCCCCTTTTTTTCTCT	0.517													8	1233	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95522922	95522924	+	RNA	DEL	ACT	ACT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:95522922_95522924delACT	ENST00000432432.2	-	0	103_105					NR_040113.1																						CATGGCGGTGACTACTTCTCAGA	0.655													8	368	---	---	---	---					
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:110301827_110301828insT	ENST00000356688.4	-	12	1821_1822	c.1506_1507insA	c.(1504-1509)aatagafs	p.NR502fs	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													8	291	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													7	465	---	---	---	---					
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:128046944_128046946delTCT	ENST00000493187.2	-	6	1060_1062	c.597_599delAGA	c.(595-600)gag>ga	p.EE199del	ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	263					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	346	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128712656	128712656	+	Frame_Shift_Del	DEL	C	C	-	rs112429524		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:128712656delC	ENST00000357702.5	-	16	2535	c.2404delG	c.(2404-2406)tgfs	p.V802fs	SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs|SAP130_ENST00000259235.3_Frame_Shift_Del_p.V767fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	767	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTGCCACCCACAGTGACTGAT	0.532													41	453	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													12	483	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													7	87	---	---	---	---					
BZW1	9689	broad.mit.edu	37	2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(844-849)ataaaafs	p.IK282fs	BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371													7	280	---	---	---	---					
NBEAL1	65065	broad.mit.edu	37	2	204000806	204000807	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:204000806_204000807insTG	ENST00000449802.1	+	27	4466_4467	c.4133_4134insTG	c.(4132-4134)agafs	p.R1378fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1378							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGTGGAATTGACTCATGTG	0.436													28	371	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cct>c	p.QP659del	TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.660													16	195	---	---	---	---					
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)cafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													11	2583	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449364	219449364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr2:219449364delT	ENST00000273064.6	+	4	725	c.350delT	c.(349-351)ctfs	p.L117fs	RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACATCCCACTTTTTTTGTAC	0.413													7	1391	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													7	572	---	---	---	---					
LIMD1	8994	broad.mit.edu	37	3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)del	p.Q63del	LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AATCCACCTCCAGCAGCAGCAGC	0.626													10	308	---	---	---	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)caa>ca	p.QQ439del	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													11	548	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggc>gg	p.GH664del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	664	His-rich.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635													7	299	---	---	---	---					
MAGI1	9223	broad.mit.edu	37	3	65372850	65372851	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_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													12	380	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													16	1655	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													18	601	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:183665257delA	ENST00000334444.6	-	23	3509	c.3269delT	c.(3268-3270)tgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACACGTAAACAAAAAAAAAGG	0.532													11	166	---	---	---	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcfs	p.S143fs	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													20	708	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													8	71	---	---	---	---					
AC024560.3	0	broad.mit.edu	37	3	197346770	197346771	+	RNA	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr3:197346770_197346771insA	ENST00000418868.1	-	0	685					NR_003266.2																						CTAAAAGAAAGAAAAAAAAAGG	0.406													9	154	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													15	568	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)tafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													13	456	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													15	350	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs2114202	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488													7	423	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_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													8	922	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaa>ga	p.EE142del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	142	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)		gtactcctcttcctcctcctcct	0.606													10	565	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													17	39	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aafs	p.K540fs	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353													10	572	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													8	377	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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	984	---	---	---	---					
AC026703.1	0	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													7	543	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	1506	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													8	285	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													9	74	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													14	1660	---	---	---	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)del	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													8	475	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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	457	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)tgfs	p.M121fs	SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													10	470	---	---	---	---					
HIST1H1A	3024	broad.mit.edu	37	6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483													13	1694	---	---	---	---					
OR2J2	26707	broad.mit.edu	37	6	29141422	29141422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:29141422delA	ENST00000377167.2	+	1	112	c.10delA	c.(10-12)aafs	p.K5fs		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGATGATTAAAAAAAATGC	0.358													9	748	---	---	---	---					
HLA-G	3135	broad.mit.edu	37	6	29797196	29797196	+	Splice_Site	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:29797196delC	ENST00000428701.1	+	5	799	c.619_splice	c.e5-1	p.D207_splice	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Splice_Site_p.N115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.D212_splice|HLA-G_ENST00000360323.6_Splice_Site_p.D207_splice	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCTTTCAGACCCCCCCAAGA	0.537													7	1125	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31973891	31973891	+	RNA	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:31973891delT	ENST00000342991.6	+	0	479					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										cttaaacaaattttttttttg	0.493													7	146	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1																						TGAAAATAGGATTGGGAGAGTA	0.475													7	111	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aac>aa	p.NS304del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	304										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552													7	1659	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													8	1381	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)ttfs	p.F406fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358													13	742	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411													9	1111	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:102503431_102503432insA	ENST00000369138.1	+	15	3028_3029	c.2538_2539insA	c.(2536-2541)tcaaaafs	p.SK846fs	GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	846					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TATACAAATCCAAAAAAAACGC	0.351													8	763	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:127804080delT	ENST00000556132.1	-	5	2399	c.1535delA	c.(1534-1536)agfs	p.K512fs	SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	512						integral to membrane											CTGTTGAGCCTTTTTTTCAGA	0.294													7	441	---	---	---	---					
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)agfs	p.K141fs	REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													7	1294	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:144086413_144086414insA	ENST00000427704.2	+	6	807_808	c.677_678insA	c.(676-678)taafs	p.*226fs	PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													12	757	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)ccfs	p.P969fs	SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473													9	1262	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								11	387	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													15	1067	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													7	175	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72040751	72040751	+	RNA	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:72040751delA	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACATCCCTAGAAAAAAAAAAT	0.328													8	203	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													9	87	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													7	438	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													10	2312	---	---	---	---					
PHTF2	57157	broad.mit.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:77569581delT	ENST00000416283.2	+	12	1726	c.1600delT	c.(1600-1602)ttfs	p.F535fs	PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303													8	702	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)del	p.Q714del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.650													8	1284	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													14	782	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:30695491delT	ENST00000256246.2	-	3	7234	c.7160delA	c.(7159-7161)agfs	p.K2387fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													8	1221	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:38285914_38285916delTCA	ENST00000341462.5	-	4	1346_1348	c.405_407delTGA	c.(403-408)gac>ga	p.DD135del	FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						8	228	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													9	867	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1686)cttfs	p.L562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													7	308	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													10	777	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100654474	100654474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr8:100654474delA	ENST00000358544.2	+	34	5842	c.5731delA	c.(5731-5733)aafs	p.K1912fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1912					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTTCAGGGAAAAAAATAGG	0.458													7	863	---	---	---	---					
EQTN	54586	broad.mit.edu	37	9	27296738	27296739	+	Splice_Site	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:27296738_27296739insA	ENST00000380032.3	-	2	160		c.e2-2		EQTN_ENST00000380031.1_Splice_Site|EQTN_ENST00000537675.1_Splice_Site|EQTN_ENST00000484994.1_5'UTR	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated									p.?(1)									TAGGCAATGCTAAAAAAAAGTA	0.322													7	254	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													7	267	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													22	75	---	---	---	---					
ANKRD19P	0	broad.mit.edu	37	9	95599088	95599089	+	RNA	DEL	CA	CA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:95599088_95599089delCA	ENST00000473204.1	+	0	1169_1170																											TTCACGGGCGCACACACACACA	0.421													9	416	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													17	56	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109689690	109689690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:109689690delC	ENST00000277225.5	+	3	3786	c.3497delC	c.(3496-3498)tcfs	p.S1166fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.S11fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.S1166fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCCAAGGCTCCCCCCGGCCA	0.542													7	1199	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													8	25	---	---	---	---					
ST8SIA6	338596	broad.mit.edu	37	10	17363132	17363132	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:17363132delT	ENST00000377602.4	-	8	1016	c.942delA	c.(940-942)aafs	p.K314fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	314					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CAGTCACACCTTTAGTTCTCC	0.438													7	1415	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del	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	582	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													12	308	---	---	---	---					
ADD3	120	broad.mit.edu	37	10	111893349	111893350	+	Frame_Shift_Ins	INS	-	-	A	rs149355298		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr10:111893349_111893350insA	ENST00000277900.8	+	14	2363_2364	c.1998_1999insA	c.(1996-2001)aaaaaafs	p.KK666fs	ADD3_ENST00000360162.3_Frame_Shift_Ins_p.KK666fs|ADD3_ENST00000356080.4_Frame_Shift_Ins_p.KK698fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	698						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.N698K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGAAAAAGAACAAAAAAAAGGA	0.337													10	682	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													12	860	---	---	---	---					
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)del	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517													8	839	---	---	---	---					
PHF21A	51317	broad.mit.edu	37	11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:46001356_46001358delGTG	ENST00000257821.4	-	6	936_938	c.313_315delCAC	c.(313-315)del	p.H105del	PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488													7	410	---	---	---	---					
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aafs	p.K292fs	CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363													7	1393	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													13	848	---	---	---	---					
ATG16L2	89849	broad.mit.edu	37	11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)cag>c	p.QE94del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	94					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													7	262	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								13	835	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)cgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642													7	1038	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)ggc>g	p.EG444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.660													7	254	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													10	336	---	---	---	---					
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)acfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	370						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398													9	854	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													15	1037	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)ctfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378													8	860	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs75456529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)ttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													12	913	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													18	298	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	1333	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	277	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													8	327	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													10	641	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25517701	25517702	+	RNA	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:25517701_25517702insT	ENST00000429698.1	-	0	374																											ACCATTTGCTATTTTTTTTTCT	0.426													10	564	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671097	25671098	+	Frame_Shift_Ins	INS	-	-	T	rs140090397	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:25671097_25671098insT	ENST00000281589.3	+	1	798_799	c.761_762insT	c.(760-762)agafs	p.R254fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	254	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAATGGAAAGGAGCTCAATG	0.401													28	753	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													29	2015	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													8	1431	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:25671804_25671806delGCT	ENST00000281589.3	+	1	1505_1507	c.1468_1470delGCT	c.(1468-1470)del	p.A496del		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	496					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGTCctgcagctgctgctgctg	0.532													8	507	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549614	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:46549613_46549614delCT	ENST00000242848.4	-	12	2620_2621	c.2272_2273delAG	c.(2272-2274)gfs	p.R758fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctct	0.530													8	494	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													15	842	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)tcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCTCCCGGATTTTTTTTTGT	0.378													12	649	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)cafs	p.H83fs	KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs			O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													7	291	---	---	---	---					
DAAM1	23002	broad.mit.edu	37	14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-	rs141935137		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)del	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTAGAGAAGGAAGAAGAAGAAG	0.325													8	302	---	---	---	---					
SNORA11	0	broad.mit.edu	37	14	70270921	70270922	+	RNA	INS	-	-	T	rs11429169		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:70270921_70270922insT	ENST00000408133.1	-	0	126_127																											CATGGATTCTCTTTTTTTTTTT	0.351													13	65	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													8	882	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													7	379	---	---	---	---					
IGHV3-21	0	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303																											AGTATATGTAACTACTACTACTA	0.517													9	1291	---	---	---	---					
IGHV3-38	0	broad.mit.edu	37	14	106866725	106866726	+	RNA	DEL	CC	CC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr14:106866725_106866726delCC	ENST00000390618.2	-	0	124																											CACAGAGACACCAAGGTCAGAA	0.520													7	1020	---	---	---	---					
CHEK2P2	0	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1																						GTTACAACCTGtttttttttt	0.423													7	271	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)atfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													7	1236	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													9	310	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													7	189	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													8	414	---	---	---	---					
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					7	532	---	---	---	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gct>g	p.VA565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													9	1266	---	---	---	---					
FAM57B	83723	broad.mit.edu	37	16	30036942	30036942	+	Frame_Shift_Del	DEL	G	G	-	rs140294527	by1000genomes	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:30036942delG	ENST00000564806.1	-	3	540	c.495delC	c.(493-495)ccfs	p.P165fs	FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CACGGGGTGAGGGGGGGATGA	0.632													7	466	---	---	---	---					
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)del	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547													7	561	---	---	---	---					
TOX3	27324	broad.mit.edu	37	16	52473513	52473515	+	In_Frame_Del	DEL	TGC	TGC	-	rs71819850		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:52473513_52473515delTGC	ENST00000219746.9	-	7	1637_1639	c.1353_1355delGCA	c.(1351-1356)caa>ca	p.QQ453del	TOX3_ENST00000407228.3_In_Frame_Del_p.QQ448del	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	453	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ctgttgttgttgctgctgctgct	0.552													8	146	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													9	319	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)del	p.S629del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616													12	495	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)del	p.Q253del						nuclear pore complex interacting protein family, member B15																		TCCTCCAACTCAACAACATTCTA	0.517													12	675	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)del	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424													14	614	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													7	729	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4442801	4442801	+	Frame_Shift_Del	DEL	T	T	-	rs78578064	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:4442801delT	ENST00000254718.4	-	26	4202	c.3896delA	c.(3895-3897)agfs	p.K1299fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.K1299fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1299	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGCCTTGCCTTTTTCCGTGC	0.582													9	1679	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:7801857_7801859delAAG	ENST00000380358.4	+	13	2273_2275	c.2272_2274delAAG	c.(2272-2274)del	p.K762del	CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													13	358	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													8	441	---	---	---	---					
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:9503387_9503389delGAT	ENST00000352665.5	+	6	709_711	c.640_642delGAT	c.(640-642)del	p.D217del	WDR16_ENST00000299764.5_In_Frame_Del_p.D227del|WDR16_ENST00000396219.3_In_Frame_Del_p.D149del	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	217						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502													8	998	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:12647692_12647694delCAG	ENST00000425538.1	+	8	1110_1112	c.910_912delCAG	c.(910-912)del	p.Q310del	MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													13	239	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)ccg>c	p.QP29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													8	582	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													7	370	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													13	218	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													24	231	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)agfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393													8	824	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													9	104	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:65822267_65822269delGAG	ENST00000321892.4	+	1	488_490	c.427_429delGAG	c.(427-429)del	p.E148del	BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del|BPTF_ENST00000424123.3_In_Frame_Del_p.E9del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	148	Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635													8	101	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													12	246	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													8	291	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)ttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													11	79	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													11	978	---	---	---	---					
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)ggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393													11	979	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs			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													7	1406	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													14	1378	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													7	965	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													12	155	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													8	1704	---	---	---	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													8	223	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													9	436	---	---	---	---					
CTD-3018O17.3	0	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.460													7	65	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)ttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													9	1555	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	1438	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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	281	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													9	503	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	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	2116	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661170	22661170	+	RNA	DEL	T	T	-	rs58170086		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:22661170delT	ENST00000426066.1	+	0	262					NR_027293.1																						AGCATACAGGTTTTCCCCCCC	0.403													18	254	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs7410785		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1																						CATACAGGTTTTCCCCCCCCAC	0.411													7	275	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					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						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				11	651	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggg>gg	p.GE381del	PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635													10	172	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													7	904	---	---	---	---					
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386													12	624	---	---	---	---					
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)ggg>gg	p.GK371del	GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	371					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557													10	531	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	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)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	465	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)cgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607													7	568	---	---	---	---					
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:110406206_110406208delGAA	ENST00000519681.1	+	10	1037_1039	c.595_597delGAA	c.(595-597)del	p.E203del	PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			11	859	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													16	489	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													8	1442	---	---	---	---					
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)ttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383													18	1447	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													8	1228	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	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													24	1162	---	---	---	---					
ATP2B3	492	broad.mit.edu	37	X	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-	rs149428057	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:152845611delC	ENST00000263519.4	+	20	3644	c.3518delC	c.(3517-3519)gcfs	p.A1173fs	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCCGGGCCCCCCCGCCC	0.587													8	1342	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154158427	154158428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-11A-12D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	78db7290-8b42-4785-88d1-93e4294873ec	g.chrX:154158427_154158428insT	ENST00000360256.4	-	14	3837_3838	c.3637_3638insA	c.(3637-3639)tcafs	p.S1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCCTGAATTTTTTTTTCT	0.327													8	326	---	---	---	---					
