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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
TRMT13	54482	broad.mit.edu	37	1	100606539	100606540	+	Frame_Shift_Ins	INS	-	-	AAGATTATTTTATAAACTAGAGTAAACACATTTGG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:100606539_100606540insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	ENST00000370141.2	+	7	639_640	c.633_634insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	c.(634-636)ttcfs	p.F212fs		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)	NA											NA						AAAAAGTTCACTTCATCCTAGT	0.366		NA											False	0	False	1:100606539	0
R3HCC1L	27291	broad.mit.edu	37	10	99968767	99968768	+	Frame_Shift_Ins	INS	-	-	GACAGAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:99968767_99968768insGACAGAA	ENST00000298999.3	+	5	1199_1200	c.896_897insGACAGAA	c.(895-900)atcttafs	p.I299fs	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Frame_Shift_Ins_p.I299fs	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like	NA											NA						ACAGGTTTCATCTTAGATCAAA	0.396		NA											False	0	False	10:99968767	0
MUC2	4583	broad.mit.edu	37	11	1095329	1095330	+	Frame_Shift_Ins	INS	-	-	AGAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:1095329_1095330insAGAT	ENST00000441003.2	+	32	6176_6177	c.6149_6150insAGAT	c.(6148-6153)tgcccafs	p.C2050fs	MUC2_ENST00000361558.6_Frame_Shift_Ins_p.C188fs|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4412						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCCCGAGTGCCCAGACTTTG	0.683		NA											False	0	True	11:1095329	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
SIK3	23387	broad.mit.edu	37	11	116827701	116827702	+	In_Frame_Ins	INS	-	-	GTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:116827701_116827702insGTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	ENST00000446921.2	-	2	373_374	c.352_353insGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCAC	c.(352-354)aag>aGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCACag	p.118_118K>RRVGKIAGLT*KQKKSQ	SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000375300.1_In_Frame_Ins_p.118_118K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000292055.4_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	60	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCAAAGCATCTTCATAATTTGA	0.411		NA											False	0	False	11:116827701	0
FGFR1OP2	26127	broad.mit.edu	37	12	27116378	27116379	+	In_Frame_Ins	INS	-	-	CTTACATTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:27116378_27116379insCTTACATTG	ENST00000327214.5	+	5	725_726	c.500_501insCTTACATTG	c.(499-504)tttcaa>ttCTTACATTGtcaa	p.167_168FQ>FLHCQ	FGFR1OP2_ENST00000229395.3_In_Frame_Ins_p.205_206FQ>FLHCQ	NM_001171887.1	NP_001165358.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	205						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GAACGAATATTTCAACTTGAAG	0.337		NA											False	0	True	12:27116378	0
ARID2	196528	broad.mit.edu	37	12	46246351	46246352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246351_46246352insG	ENST00000334344.6	+	15	4617_4618	c.4445_4446insG	c.(4444-4449)caaatcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGGGACATCAAATCATAGCAG	0.446		NA	"""N, S, F"""		hepatocellular carcinoma								False	0	True	12:46246351	0
ARID2	196528	broad.mit.edu	37	12	46246353	46246354	+	Frame_Shift_Ins	INS	-	-	ATTCTTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246353_46246354insATTCTTTC	ENST00000334344.6	+	15	4619_4620	c.4447_4448insATTCTTTC	c.(4447-4449)atcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGACATCAAATCATAGCAGTT	0.45		NA	"""N, S, F"""		hepatocellular carcinoma								False	0	True	12:46246353	0
TMPRSS12	283471	broad.mit.edu	37	12	51279203	51279204	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279203_51279204insG	ENST00000551456.1	+	4	872_873	c.827_828insG	c.(826-831)tttctgfs	p.FL276fs	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	275	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTAAAATATTTTCTGAAGCCAG	0.342		NA											False	0	True	12:51279203	0
TMPRSS12	283471	broad.mit.edu	37	12	51279204	51279205	+	Frame_Shift_Ins	INS	-	-	AGCGTTAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279204_51279205insAGCGTTAC	ENST00000551456.1	+	4	873_874	c.828_829insAGCGTTAC	c.(829-831)ctgfs	p.L277fs	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	276	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TAAAATATTTTCTGAAGCCAGA	0.342		NA											False	0	True	12:51279204	0
LEMD3	23592	broad.mit.edu	37	12	65639545	65639546	+	In_Frame_Ins	INS	-	-	CAACAACCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:65639545_65639546insCAACAACCA	ENST00000308330.2	+	11	2510_2511	c.2484_2485insCAACAACCA	c.(2485-2487)tca>CAACAACCAtca	p.828_829insQQP		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	828	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TAGACAAAAATTCACGTGAGGT	0.322		NA											False	0	False	12:65639545	0
NAA25	80018	broad.mit.edu	37	12	112506776	112506777	+	Frame_Shift_Ins	INS	-	-	TTGATAAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:112506776_112506777insTTGATAAT	ENST00000261745.4	-	11	1304_1305	c.1056_1057insATTATCAA	c.(1054-1059)atgttcfs	p.F353fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	353						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAATACTGGAACATTAATTCTT	0.347		NA											False	0	False	12:112506776	0
NAA16	79612	broad.mit.edu	37	13	41932599	41932600	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932599_41932600insTC	ENST00000379406.3	+	11	1571_1572	c.1247_1248insTC	c.(1246-1251)aaaattfs	p.KI416fs	NAA16_ENST00000403412.3_Frame_Shift_Ins_p.KI416fs|NAA16_ENST00000379367.3_Frame_Shift_Ins_p.KI416fs	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATGAAAGCAAAAATTTACAAGG	0.312		NA											False	0	True	13:41932599	0
NAA16	79612	broad.mit.edu	37	13	41932600	41932601	+	In_Frame_Ins	INS	-	-	CAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932600_41932601insCAT	ENST00000379406.3	+	11	1572_1573	c.1248_1249insCAT	c.(1249-1251)att>CATatt	p.416_417insH	NAA16_ENST00000403412.3_In_Frame_Ins_p.416_417insH|NAA16_ENST00000379367.3_In_Frame_Ins_p.416_417insH	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGAAAGCAAAAATTTACAAGGT	0.312		NA											False	0	True	13:41932600	0
UGGT2	55757	broad.mit.edu	37	13	96547518	96547519	+	In_Frame_Ins	INS	-	-	GGTATAATAAAAGACATATAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:96547518_96547519insGGTATAATAAAAGACATATAT	ENST00000376747.3	-	23	2744_2745	c.2674_2675insATATATGTCTTTTATTATACC	c.(2674-2676)ttt>tATATATGTCTTTTATTATACCtt	p.892_892F>YICLLLYL		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	892					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAACAAGTAAAAATCTTCTGCA	0.262		NA											False	0	True	13:96547518	0
PNN	5411	broad.mit.edu	37	14	39648438	39648439	+	Frame_Shift_Ins	INS	-	-	TAGC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:39648438_39648439insTAGC	ENST00000216832.4	+	7	709_710	c.642_643insTAGC	c.(643-645)cttfs	p.L215fs	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	215	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGAAAGTTGAGCTTGCGCAGCT	0.416		NA											False	0	False	14:39648438	0
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:58934617_58934618insGAAAAGTCTAATAT	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATAT	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361		NA											False	0	False	14:58934617	0
AREL1	9870	broad.mit.edu	37	14	75143319	75143320	+	Frame_Shift_Ins	INS	-	-	GACAATAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:75143319_75143320insGACAATAC	ENST00000356357.4	-	6	1132_1133	c.617_618insGTATTGTC	c.(616-618)agafs	p.-206fs	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1	NA											NA						TGTGCTCATCTCTCAAGGACAT	0.455		NA											False	0	True	14:75143319	0
ATG2B	55102	broad.mit.edu	37	14	96808038	96808039	+	Splice_Site	INS	-	-	TGTAGTAAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:96808038_96808039insTGTAGTAAAA	ENST00000359933.4	-	6	1638	c.745_745insTTTTACTACA	c.(745-747)gaa>TTTTACTACAgaa	p.E249fs		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	249										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTCAGTTTCCTACAATAAAG	0.307		NA											False	0	False	14:96808038	0
SECISBP2L	9728	broad.mit.edu	37	15	49293210	49293211	+	Frame_Shift_Ins	INS	-	-	TATAGCTGTGGGATATACAGTGAATATAAAGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:49293210_49293211insTATAGCTGTGGGATATACAGTGAATATAAAGT	ENST00000559471.1	-	15	2374_2375	c.2111_2112insACTTTATATTCACTGTATATCCCACAGCTATA	c.(2110-2112)atcfs	p.-704fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.-659fs|SECISBP2L_ENST00000559122.1_5'UTR	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	NA										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTTTGGTAGATGCGTTCCTG	0.371		NA											False	0	False	15:49293210	0
MAPK6	5597	broad.mit.edu	37	15	52357088	52357089	+	Frame_Shift_Ins	INS	-	-	ATCTTCTTTCC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:52357088_52357089insATCTTCTTTCC	ENST00000261845.5	+	6	2864_2865	c.2057_2058insATCTTCTTTCC	c.(2056-2061)gttgggfs	p.G687fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	687					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CACAGTCCAGTTGGGTCACCAC	0.46		NA											False	0	True	15:52357088	0
USP8	9101	broad.mit.edu	37	15	50773952	50773953	+	Frame_Shift_Ins	INS	-	-	ACTTTTCC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:50773952_50773953insACTTTTCC	ENST00000425032.3	+	9	1455_1456	c.1262_1263insACTTTTCC	c.(1261-1266)gaacaafs	p.Q422fs	USP8_ENST00000307179.4_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000433963.1_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000396444.3_Frame_Shift_Ins_p.Q499fs			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	499					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E498E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		aggaaggaagaacaagaacaaa	0.351		NA											False	0	True	15:50773952	0
AKAP13	11214	broad.mit.edu	37	15	86207971	86207972	+	In_Frame_Ins	INS	-	-	GCACAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:86207971_86207972insGCACAA	ENST00000394518.2	+	13	5072_5073	c.4977_4978insGCACAA	c.(4978-4980)atg>GCACAAatg	p.1659_1660insAQ	AKAP13_ENST00000361243.2_In_Frame_Ins_p.1663_1664insAQ|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1659					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGAACATAGGATGTTTGATCA	0.406		NA											False	0	False	15:86207971	0
BLM	641	broad.mit.edu	37	15	91293298	91293299	+	Splice_Site	INS	-	-	AGGGTGGAGGCAAATCAGTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:91293298_91293299insAGGGTGGAGGCAAATCAGTCT	ENST00000560509.1	+	3	850		c.e3+1		BLM_ENST00000355112.3_Splice_Site			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	NA					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATGAAAGAGGTAACAATTATT	0.342		NA	"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91293298	0
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546		NA											False	1	False	16:22161152	0
NFAT5	10725	broad.mit.edu	37	16	69693784	69693785	+	In_Frame_Ins	INS	-	-	AATACAGAAAAAAAATATATAAAGGGA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:69693784_69693785insAATACAGAAAAAAAATATATAAAGGGA	ENST00000354436.2	+	6	1615_1616	c.1297_1298insAATACAGAAAAAAAATATATAAAGGGA	c.(1297-1299)tct>tAATACAGAAAAAAAATATATAAAGGGAct	p.433_433S>*YRKKIYKGT	NFAT5_ENST00000349945.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000567239.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT|NFAT5_ENST00000393742.2_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000566899.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000432919.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	433	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAAACACCCTCTTCTCCAATT	0.361		NA											False	0	False	16:69693784	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
EVI2B	2124	broad.mit.edu	37	17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342		NA											False	0	True	17:29632121	0
POLI	11201	broad.mit.edu	37	18	51807207	51807208	+	In_Frame_Ins	INS	-	-	TGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:51807207_51807208insTGT	ENST00000579434.1	+	4	955_956	c.421_422insTGT	c.(421-423)aca>aTGTca	p.141_141T>MS	POLI_ENST00000217800.5_In_Frame_Ins_p.118_118T>MS|POLI_ENST00000579534.1_In_Frame_Ins_p.244_244T>MS|POLI_ENST00000406285.3_Intron			Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	244	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATCAACAAACAGTCTTATTA	0.351		NA						DNA polymerases (catalytic subunits)					False	0	True	18:51807207	0
ZNF90	7643	broad.mit.edu	37	19	20228881	20228882	+	Frame_Shift_Ins	INS	-	-	TTTTAACTCTAAATTGC	rs138427736	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:20228881_20228882insTTTTAACTCTAAATTGC	ENST00000418063.2	+	4	630_631	c.518_519insTTTTAACTCTAAATTGC	c.(517-522)ttcaaafs	p.K174fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	174						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAAAAACCTTTCAAATGTATAG	0.342		NA											False	0	True	19:20228881	0
ZNF714	148206	broad.mit.edu	37	19	21300607	21300608	+	Frame_Shift_Ins	INS	-	-	ATTGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21300607_21300608insATTGT	ENST00000596143.1	+	5	1462_1463	c.1137_1138insATTGT	c.(1138-1140)tccfs	p.S380fs	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCTTTAACCACTCCTCAAAACT	0.366		NA											False	0	False	19:21300607	0
ZNF429	353088	broad.mit.edu	37	19	21720598	21720599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720598_21720599insA	ENST00000358491.4	+	4	1951_1952	c.1743_1744insA	c.(1744-1746)agtfs	p.S582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAACCTTAGTAGTCATAAGAA	0.361		NA											False	1	False	19:21720598	0
ZNF429	353088	broad.mit.edu	37	19	21720600	21720601	+	Frame_Shift_Ins	INS	-	-	GTTTCTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720600_21720601insGTTTCTC	ENST00000358491.4	+	4	1953_1954	c.1745_1746insGTTTCTC	c.(1744-1749)agtcatfs	p.SH582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AACCTTAGTAGTCATAAGAAAA	0.351		NA											False	0	False	19:21720600	0
ZNF461	92283	broad.mit.edu	37	19	37130928	37130929	+	In_Frame_Ins	INS	-	-	ACTCAAGAATTTTATGATAGAGAGAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:37130928_37130929insACTCAAGAATTTTATGATAGAGAGAAA	ENST00000588268.1	-	6	545_546	c.318_319insTTTCTCTCTATCATAAAATTCTTGAGT	c.(316-321)gatgag>gatTTTCTCTCTATCATAAAATTCTTGAGTgag	p.106_107DE>DFLSIIKFLSE	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_In_Frame_Ins_p.83_84DE>DFLSIIKFLSE	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGGGGCTCATCTCTGGATG	0.342		NA											False	0	False	19:37130928	0
PTH2	113091	broad.mit.edu	37	19	49926524	49926525	+	In_Frame_Ins	INS	-	-	CAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:49926524_49926525insCAC	ENST00000270631.1	-	1	173_174	c.72_73insGTG	c.(70-75)gtgccc>gtgGTGccc	p.24_25insV		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	24					neuropeptide signaling pathway	extracellular region				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		ACGCCCCAGGGCACCACcagca	0.683		NA											False	2	True	19:49926524	0
SNRPB2	6629	broad.mit.edu	37	20	16712412	16712413	+	Splice_Site	INS	-	-	AGTAAATTATACTGAACTGTGGCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:16712412_16712413insAGTAAATTATACTGAACTGTGGCA	ENST00000246071.6	+	2	280		c.e2+1		SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	NA						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AAAAAGGAAGGTAAGTGCTTTT	0.292		NA											False	0	True	20:16712412	0
ZNF678	339500	broad.mit.edu	37	1	227843311	227843312	+	Frame_Shift_Ins	INS	-	-	CTTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:227843311_227843312insCTTG	ENST00000343776.4	+	4	1705_1706	c.1360_1361insCTTG	c.(1360-1362)attfs	p.I454fs	ZNF678_ENST00000397097.3_Frame_Shift_Ins_p.I509fs|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	509					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GCATAAGAGAATTCATACTGAA	0.366		NA											False	0	False	1:227843311	0
EP300	2033	broad.mit.edu	37	22	41542816	41542822	+	Splice_Site	DEL	ATCTGGT	ATCTGGT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ATCTGGT	ATCTGGT	-	-	ATCTGGT	ATCTGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:41542816_41542822delATCTGGT	ENST00000263253.7	+	11	3346_3350	c.2127_2131delATCTGGT	c.(2125-2133)caatctggt>cagt	p.SG710fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	710					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAACTCCACAATCTGGTAAATAGTGaa	0.401		NA	"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				False	1	False	22:41542816	0
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557		NA											False	1	False	X:50350672	0
GPRASP1	9737	broad.mit.edu	37	X	101909010	101909011	+	Frame_Shift_Ins	INS	-	-	GTACTAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:101909010_101909011insGTACTAT	ENST00000361600.5	+	5	970_971	c.169_170insGTACTAT	c.(169-171)aagfs	p.K57fs	GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.K57fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.K57fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.K57fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	57						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAATAAGTCCAAGGTTATGCCT	0.53		NA											False	0	False	X:101909010	0
CSAG1	158511	broad.mit.edu	37	X	151904512	151904513	+	In_Frame_Ins	INS	-	-	GAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:151904512_151904513insGAT	ENST00000370291.2	+	3	290_291	c.10_11insGAT	c.(10-12)act>aGATct	p.4_4T>RS	CSAG1_ENST00000452779.2_In_Frame_Ins_p.4_4T>RS|CSAG1_ENST00000370287.3_In_Frame_Ins_p.4_4T>RS			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	4										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCGGCGACTACAGGTAAG	0.356		NA											False	0	False	X:151904512	0
HEATR5B	54497	broad.mit.edu	37	2	37229687	37229688	+	Frame_Shift_Ins	INS	-	-	TTGAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:37229687_37229688insTTGAT	ENST00000233099.5	-	32	5173_5174	c.5078_5079insATCAA	c.(5077-5079)tgtfs	p.C1693fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1693							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAATACGGTACAGGCCTCTTT	0.386		NA											False	0	False	2:37229687	0
MSH2	4436	broad.mit.edu	37	2	47637485	47637486	+	Frame_Shift_Ins	INS	-	-	C	rs141718852		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:47637485_47637486insC	ENST00000406134.1	+	3	681_682	c.619_620insC	c.(619-621)gctfs	p.A207fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.A207fs			P43246	MSH2_HUMAN	mutS homolog 2	207					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAGAGACTGCTGGAGACATG	0.45		NA	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	1	False	2:47637485	0
REL	5966	broad.mit.edu	37	2	61128209	61128210	+	In_Frame_Ins	INS	-	-	ATATAGCAATACTGAAGTTAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:61128209_61128210insATATAGCAATACTGAAGTTAT	ENST00000295025.7	+	4	705_706	c.385_386insATATAGCAATACTGAAGTTAT	c.(385-387)cca>cATATAGCAATACTGAAGTTATca	p.129_129P>HIAILKLS	REL_ENST00000394479.3_In_Frame_Ins_p.129_129P>HIAILKLS	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	129	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGGAATCAATCCATTCAATGGT	0.257		NA	A		Hodgkin Lymphoma								False	0	True	2:61128209	0
AFTPH	54812	broad.mit.edu	37	2	64779684	64779685	+	In_Frame_Ins	INS	-	-	TCCTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:64779684_64779685insTCCTCT	ENST00000238856.4	+	2	1390_1391	c.1076_1077insTCCTCT	c.(1075-1080)gactta>gaTCCTCTctta	p.359_360DL>DPLL	AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000238855.7_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000422803.1_In_Frame_Ins_p.359_360DL>DPLL	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	359					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						GAAAAACTTGACTTACTTACTT	0.361		NA											False	0	True	2:64779684	0
SP3	6670	broad.mit.edu	37	2	174774896	174774897	+	Frame_Shift_Ins	INS	-	-	ACAGC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:174774896_174774897insACAGC	ENST00000310015.6	-	7	2648_2649	c.2118_2119insGCTGT	c.(2116-2121)aaaaaafs	p.K707fs	SP3_ENST00000418194.2_Frame_Shift_Ins_p.K639fs|SP3_ENST00000455789.2_Frame_Shift_Ins_p.K654fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	707					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGAATACCTTTTTTATTCTGGT	0.391		NA											False	0	True	2:174774896	0
SGOL2	151246	broad.mit.edu	37	2	201436687	201436688	+	Frame_Shift_Ins	INS	-	-	CTCTT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:201436687_201436688insCTCTT	ENST00000357799.4	+	7	1716_1717	c.1618_1619insCTCTT	c.(1618-1620)attfs	p.I540fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	540					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GACATTTGTGATTCACAAATTA	0.332		NA											False	0	False	2:201436687	0
AGPS	8540	broad.mit.edu	37	2	178402901	178402902	+	Frame_Shift_Ins	INS	-	-	GTGACCATGAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:178402901_178402902insGTGACCATGAG	ENST00000264167.4	+	20	2101_2102	c.1955_1956insGTGACCATGAG	c.(1954-1959)tttggafs	p.FG652fs	AGPS_ENST00000409888.1_Frame_Shift_Ins_p.FG183fs	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	652					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AATAACATCTTTGGAAACAGAA	0.342		NA											False	0	True	2:178402901	0
RPS6KA1	6195	broad.mit.edu	37	1	26872494	26872495	+	In_Frame_Ins	INS	-	-	AAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:26872494_26872495insAAT	ENST00000531382.1	+	1	152_153	c.103_104insAAT	c.(103-105)cct>cAATct	p.35_35P>QS	RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	26					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCTGCCTGTCCCTGGCCCTGGC	0.683		NA											False	0	True	1:26872494	0
SPEF2	79925	broad.mit.edu	37	5	35704744	35704745	+	In_Frame_Ins	INS	-	-	TTTAATTAGATAATTTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:35704744_35704745insTTTAATTAGATAATTTTC	ENST00000440995.2	+	17	2472_2473	c.2472_2473insTTTAATTAGATAATTTTC	c.(2473-2475)aga>TTTAATTAGATAATTTTCaga	p.824_825insFN*IIF	SPEF2_ENST00000356031.3_In_Frame_Ins_p.829_830insFN*IIF|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_In_Frame_Ins_p.824_825insFN*IIF			Q9C093	SPEF2_HUMAN	sperm flagellar 2	829					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAAATTTAAGAGACCAGAT	0.342		NA											False	0	False	5:35704744	0
NIPBL	25836	broad.mit.edu	37	5	37049358	37049359	+	Frame_Shift_Ins	INS	-	-	ATTTCAAAATTAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37049358_37049359insATTTCAAAATTAG	ENST00000282516.8	+	40	7408_7409	c.6909_6910insATTTCAAAATTAG	c.(6910-6912)gtcfs	p.V2304fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.V2304fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2304					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCCCTAAATGTCATTGCATT	0.401		NA											False	0	False	5:37049358	0
NUP155	9631	broad.mit.edu	37	5	37292136	37292137	+	Frame_Shift_Ins	INS	-	-	AAGAATGTAAGAACAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37292136_37292137insAAGAATGTAAGAACAA	ENST00000231498.3	-	35	4244_4245	c.4041_4042insTTGTTCTTACATTCTT	c.(4039-4044)agaagafs	p.R1348fs	NUP155_ENST00000381843.2_Frame_Shift_Ins_p.R1289fs|NUP155_ENST00000513532.1_Frame_Shift_Ins_p.R1284fs|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1348					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTGTAAATCTTCTCCTACAAC	0.406		NA											False	0	False	5:37292136	0
ARHGEF28	64283	broad.mit.edu	37	5	73166021	73166022	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:73166021_73166022insAA	ENST00000426542.2	+	20	2573_2574	c.2553_2554insAA	c.(2554-2556)gatfs	p.D852fs	ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs					Rho guanine nucleotide exchange factor (GEF) 28	NA											NA						TCAAAAGACAGGATGTCATTTT	0.436		NA											False	0	False	5:73166021	0
ARHGEF28	64283	broad.mit.edu	37	5	73166022	73166023	+	Frame_Shift_Ins	INS	-	-	TACAATA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:73166022_73166023insTACAATA	ENST00000426542.2	+	20	2574_2575	c.2554_2555insTACAATA	c.(2554-2556)gatfs	p.D852fs	ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs					Rho guanine nucleotide exchange factor (GEF) 28	NA											NA						CAAAAGACAGGATGTCATTTTT	0.436		NA											False	0	False	5:73166022	0
CMYA5	202333	broad.mit.edu	37	5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:79025540_79025541insATTTCTTTAATTACA	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACA	c.(952-954)ttc>tATTTCTTTAATTACAtc	p.318_318F>YFFNYI		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431		NA											False	0	False	5:79025540	0
SLCO6A1	133482	broad.mit.edu	37	5	101755631	101755632	+	Translation_Start_Site	INS	-	-	TGTTCATGTAATT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:101755631_101755632insTGTTCATGTAATT	ENST00000514551.1	-	0	821_822				SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000506729.1_Frame_Shift_Ins_p.F457fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.F395fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.F457fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	NA						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAACCATTATAAATCTCATAAG	0.366		NA											False	0	True	5:101755631	0
ZSWIM5	57643	broad.mit.edu	37	1	45553906	45553907	+	Frame_Shift_Ins	INS	-	-	TAGGGACC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:45553906_45553907insTAGGGACC	ENST00000359600.5	-	2	803_804	c.598_599insGGTCCCTA	c.(598-600)tttfs	p.F200fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	200							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACTCAGATGAAAGCCTAAGGAA	0.356		NA											False	0	True	1:45553906	0
HMMR	3161	broad.mit.edu	37	5	162900464	162900465	+	Frame_Shift_Ins	INS	-	-	ATGACTGAGTATTAAAAAAATAAGG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:162900464_162900465insATGACTGAGTATTAAAAAAATAAGG	ENST00000416990.2	+	9	957_958	c.460_461insATGACTGAGTATTAAAAAAATAAGG	c.(460-462)attfs	p.I154fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.I269fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.I253fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.I268fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.I182fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	268						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAATGATGAAATTTTAAGCCTT	0.307		NA											False	0	True	5:162900464	0
PGBD1	84547	broad.mit.edu	37	6	28269791	28269792	+	In_Frame_Ins	INS	-	-	AAAATA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269791_28269792insAAAATA	ENST00000405948.2	+	7	2580_2581	c.2160_2161insAAAATA	c.(2161-2163)cct>AAAATAcct	p.720_721insKI	PGBD1_ENST00000259883.3_In_Frame_Ins_p.720_721insKI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	720					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGAAGAAATCCCTCAGATAAG	0.416		NA											False	0	True	6:28269791	0
PGBD1	84547	broad.mit.edu	37	6	28269793	28269794	+	In_Frame_Ins	INS	-	-	CTCTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269793_28269794insCTCTCT	ENST00000405948.2	+	7	2582_2583	c.2162_2163insCTCTCT	c.(2161-2166)cctcag>ccCTCTCTtcag	p.721_722PQ>PSLQ	PGBD1_ENST00000259883.3_In_Frame_Ins_p.721_722PQ>PSLQ	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	721					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGAAATCCCTCAGATAAGTC	0.411		NA											False	0	True	6:28269793	0
RIMS1	0	broad.mit.edu	37	6	72968815	72968816	+	Splice_Site	INS	-	-	CAGACAGACTAAAGTGAAGGAACTAAGAGTAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:72968815_72968816insCAGACAGACTAAAGTGAAGGAACTAAGAGTAA	ENST00000264839.7	+	18	3053		c.e18+1		RIMS1_ENST00000521978.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	NA					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AACAAGACAGGTATTTGTCAAA	0.356		NA											False	0	False	6:72968815	0
STIL	6491	broad.mit.edu	37	1	47746438	47746439	+	Frame_Shift_Ins	INS	-	-	TGTCCAGTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:47746438_47746439insTGTCCAGTCT	ENST00000360380.3	-	13	2054_2055	c.1691_1692insAGACTGGACA	c.(1690-1692)tctfs	p.-564fs	STIL_ENST00000337817.5_Frame_Shift_Ins_p.-564fs|STIL_ENST00000243182.6_Frame_Shift_Ins_p.-564fs|STIL_ENST00000371877.3_Frame_Shift_Ins_p.-564fs|STIL_ENST00000396221.2_Frame_Shift_Ins_p.-564fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	NA					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GCGGGGCAAGAGAAGACTGCCT	0.426		NA											False	0	False	1:47746438	0
CASP8AP2	9994	broad.mit.edu	37	6	90572805	90572806	+	RNA	INS	-	-	GTTATTTCATTCTTGG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:90572805_90572806insGTTATTTCATTCTTGG	ENST00000551025.1	+	0	2814_2815							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	NA					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)		AGTGGGAAAATACACCTTTAAA	0.342		NA											False	0	False	6:90572805	0
ASCC3	10973	broad.mit.edu	37	6	101053522	101053523	+	Frame_Shift_Ins	INS	-	-	AGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:101053522_101053523insAGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	ENST00000369162.2	-	33	5442_5443	c.5098_5099insTAAAGTGATAATTATATTGTTTCACATTATATTAAATTCTTCT	c.(5098-5100)aaafs	p.K1700fs		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1700	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATTACAGCTTTGCCTTGGTCA	0.361		NA											False	0	True	6:101053522	0
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65		NA											False	2	False	6:159655079	0
TAX1BP1	8887	broad.mit.edu	37	7	27825110	27825111	+	Splice_Site	INS	-	-	TTTAAAGTTTTAAAATTTTTATTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG	ENST00000396319.2	+	7	940		c.e7+2		TAX1BP1_ENST00000409980.1_Splice_Site|TAX1BP1_ENST00000543117.1_Splice_Site|TAX1BP1_ENST00000433216.2_Splice_Site|TAX1BP1_ENST00000265393.6_Splice_Site	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	NA					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAAGGTAATTTATTTTT	0.376		NA											False	0	True	7:27825110	0
NEXN	91624	broad.mit.edu	37	1	78383958	78383959	+	Splice_Site	INS	-	-	TTCCTAAAA	rs112542707		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:78383958_78383959insTTCCTAAAA	ENST00000334785.7	+	5	631	c.447_447insTTCCTAAAA	c.(448-450)att>atTTCCTAAAAt	p.150_151insS*N	NEXN_ENST00000294624.8_Splice_Site_p.149_150insNS*|NEXN_ENST00000457030.1_Splice_Site_p.150_150E>DS*K|NEXN_ENST00000330010.8_Splice_Site_p.86_87insS*N	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	150	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGGCTGAACAGGTATCACTGAA	0.337		NA											False	0	False	1:78383958	0
RNF32	140545	broad.mit.edu	37	7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437351_156437352insT	ENST00000392741.2	+	2	262_263	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361		NA											False	0	False	7:156437351	0
RNF32	140545	broad.mit.edu	37	7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000392741.2	+	2	263_264	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	NA						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361		NA											False	0	False	7:156437352	0
DOCK5	80005	broad.mit.edu	37	8	25182975	25182976	+	Frame_Shift_Ins	INS	-	-	AATTT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182975_25182976insAATTT	ENST00000276440.7	+	18	1859_1860	c.1815_1816insAATTT	c.(1816-1818)ctgfs	p.L606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	606	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CATCCAAAAACCTGGTCACCTT	0.46		NA											False	0	False	8:25182975	0
DOCK5	80005	broad.mit.edu	37	8	25182976	25182977	+	Frame_Shift_Ins	INS	-	-	TATCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182976_25182977insTATCA	ENST00000276440.7	+	18	1860_1861	c.1816_1817insTATCA	c.(1816-1818)ctgfs	p.-606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	NA						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATCCAAAAACCTGGTCACCTTC	0.46		NA											False	0	False	8:25182976	0
WRN	7486	broad.mit.edu	37	8	30938664	30938665	+	In_Frame_Ins	INS	-	-	TTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938664_30938665insTTC	ENST00000298139.5	+	9	1370_1371	c.1121_1122insTTC	c.(1120-1125)tttgaa>ttTTCtgaa	p.374_375FE>FSE		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	374					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATGGATTTGAAGATGGAG	0.361		NA	"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	True	8:30938664	0
WRN	7486	broad.mit.edu	37	8	30938666	30938667	+	Frame_Shift_Ins	INS	-	-	AAATATCCTTTAGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938666_30938667insAAATATCCTTTAGT	ENST00000298139.5	+	9	1372_1373	c.1123_1124insAAATATCCTTTAGT	c.(1123-1125)gaafs	p.-375fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	NA					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGATGGATTTGAAGATGGAGTA	0.361		NA	"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:30938666	0
VCPIP1	80124	broad.mit.edu	37	8	67576975	67576976	+	Frame_Shift_Ins	INS	-	-	AAGTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:67576975_67576976insAAGTC	ENST00000310421.4	-	1	2476_2477	c.2218_2219insGACTT	c.(2218-2220)aaafs	p.K740fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	740					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTTGCCCTTTTTGTTCTTGT	0.426		NA											False	0	True	8:67576975	0
SNX16	64089	broad.mit.edu	37	8	82715403	82715404	+	In_Frame_Ins	INS	-	-	GCATAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:82715403_82715404insGCATAC	ENST00000353788.4	-	5	821_822	c.654_655insGTATGC	c.(652-657)aaacaa>aaaGTATGCcaa	p.218_219KQ>KVCQ	SNX16_ENST00000345957.4_In_Frame_Ins_p.247_248KQ>KVCQ|SNX16_ENST00000396330.2_In_Frame_Ins_p.247_248KQ>KVCQ|RP13-923O23.6_ENST00000524337.1_RNA	NM_152837.2	NP_690050.1	P57768	SNX16_HUMAN	sorting nexin 16	247	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ATCTCCTTTTGTTTTTCAAGTA	0.342		NA											False	0	True	8:82715403	0
RFX3	5991	broad.mit.edu	37	9	3271103	3271104	+	Frame_Shift_Ins	INS	-	-	TAATAAATTAGAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:3271103_3271104insTAATAAATTAGAG	ENST00000382004.3	-	11	1412_1413	c.1101_1102insCTCTAATTTATTA	c.(1099-1104)gttgttfs	p.V368fs	RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V368fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V368fs	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	368					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AGATTCACAACAACGTCCAATA	0.376		NA											False	0	False	9:3271103	0
JAK2	3717	broad.mit.edu	37	9	5089799	5089800	+	Frame_Shift_Ins	INS	-	-	ACAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:5089799_5089800insACAAA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAA	c.(2698-2700)gaafs	p.E900fs	JAK2_ENST00000539801.1_Frame_Shift_Ins_p.E900fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.E751fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	900	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAAGGGAAATTGAAATCCTGAA	0.441		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				False	0	True	9:5089799	0
PCSK5	5125	broad.mit.edu	37	9	78790149	78790153	+	Frame_Shift_Del	DEL	AATGA	AATGA	-	rs4281168		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:78790149_78790153delAATGA	ENST00000376767.3	+	14	2516_2520	c.2004_2008delAATGA	c.(2002-2010)ggaatgaaafs	p.MK669fs	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41		NA											False	1	True	9:78790149	0
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000462765.1_Splice_Site	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	NA					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299		NA											False	0	False	1:66036155	0
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577		NA											False	0	False	1:111060380	0
SDE2	163859	broad.mit.edu	37	1	226180632	226180632	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:226180632G>C	ENST00000272091.7	-	3	328	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)	NA											NA						CTTCCACTGAGATCCCGACAA	0.433		NA											False	0	False	1:226180632	0
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral to membrane		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423		NA											False	0	False	12:126138387	0
RPGR	6103	broad.mit.edu	37	X	38146147	38146147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:38146147C>T	ENST00000378505.2	-	15	2281	c.2105G>A	c.(2104-2106)tGg>tAg	p.W702*	RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	691	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcttcttccattcttcctt	0.542		NA											False	0	False	X:38146147	0
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652		NA						Other identified genes with known or suspected DNA repair function					False	0	True	17:73624802	0
LPPR4	0	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507		NA											False	0	False	1:99772446	0
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443		NA											False	0	False	18:31538336	0
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502		NA											False	0	True	2:189927907	0
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000370623.3_Silent_p.F102F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478		NA											False	0	False	13:111870079	0
SYTL4	94121	broad.mit.edu	37	X	99941732	99941732	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:99941732T>C	ENST00000455616.1	-	13	1577	c.1231A>G	c.(1231-1233)Aga>Gga	p.R411G	SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G|SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000372989.1_Missense_Mutation_p.R411G			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	411	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGTTTTTCTTTTTCCTTGG	0.443		NA											False	0	True	X:99941732	0
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517		NA											False	0	False	8:110984838	0
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687		NA											False	0	True	1:154920764	0
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647		NA											False	0	False	9:34976561	0
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552		NA											False	0	False	1:159888604	0
FFAR3	2865	broad.mit.edu	37	19	35850606	35850606	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:35850606G>A	ENST00000327809.4	+	2	1015	c.814G>A	c.(814-816)Gac>Aac	p.D272N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	272						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTGTGTCGACCCCTTTGT	0.592		NA											False	0	False	19:35850606	0
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383785.2_3'UTR	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587		NA											False	0	True	3:15495398	0
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGGCCCCCAGGCCCAACAG	0.652		NA											False	0	True	20:3670268	0
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478		NA								HNSCC(33;0.089)			False	0	True	8:77766675	0
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	NA	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCAGTCGAGCTCATCAA	0.582		NA											False	0	False	2:236957825	0
DROSHA	29102	broad.mit.edu	37	5	31526591	31526591	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:31526591G>A	ENST00000511367.2	-	4	693	c.449C>T	c.(448-450)tCc>tTc	p.S150F	DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	150	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAGGCATGGAGGGAGGGGG	0.572		NA											False	0	True	5:31526591	0
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000342922.4	+	3	973	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	206	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522		NA											False	0	False	11:47296667	0
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677		NA											False	0	True	21:44479374	0
ABCA10	10349	broad.mit.edu	37	17	67187404	67187404	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:67187404G>T	ENST00000269081.4	-	18	2833	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	642					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAATGTGCTGCTTAATAAGG	0.343		NA											False	0	False	17:67187404	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205111	14205111	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	92					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTCCGGGCGCCGCCAGCCA	0.751		NA											False	0	False	17:14205111	0
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517		NA											False	0	True	12:5021748	0
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000358295.5	+	2	359	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706		NA											False	0	False	22:49042501	0
PDZD7	79955	broad.mit.edu	37	10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	369						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGTCTGCATGGCTGTGTCCGC	0.741		NA									OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:102778797	0
ADARB2	105	broad.mit.edu	37	10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	289	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.G289R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TAGCGCAGCCCGGCGCGCAGG	0.771		NA											False	0	True	10:1405435	0
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388		NA											False	0	True	13:102047562	0
RPL11	6135	broad.mit.edu	37	1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	150					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGACAGGCTGCATTGGGGCCA	0.517		NA											False	0	False	1:24022341	0
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000389524.4	+	17	2070	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000409816.2_Missense_Mutation_p.R673W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672		NA											False	0	False	2:128350393	0
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443		NA											False	0	True	5:169098083	0
MPP7	143098	broad.mit.edu	37	10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000337532.5	-	18	1882	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000375732.1_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	536	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAAGATGACCATATTGACTT	0.318		NA											False	0	False	10:28343119	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	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	0.348	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)			False	0	False	12:25398284	0
HERC2	8924	broad.mit.edu	37	15	28413594	28413594	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:28413594C>T	ENST00000261609.7	-	67	10480	c.10372G>A	c.(10372-10374)Gaa>Aaa	p.E3458K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3458					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCTGTCTTCGATATCAACA	0.502		NA											False	0	False	15:28413594	0
GPR126	0	broad.mit.edu	37	6	142691373	142691373	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:142691373T>C	ENST00000230173.6	+	4	988	c.512T>C	c.(511-513)gTt>gCt	p.V171A	GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A|GPR126_ENST00000367608.2_Missense_Mutation_p.V171A|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	171	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGTATCTGTTGCAAAAAGC	0.423		NA											False	0	False	6:142691373	0
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000229201.4	-	8	858	c.704G>A	c.(703-705)gGa>gAa	p.G235E	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	236					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547		NA											False	0	True	12:56825369	0
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-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)		CTCTTTCTTTTTCTTAATTGG	0.363		NA											False	0	True	13:46543773	0
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468		NA											False	0	False	X:54987327	0
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000368909.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2227N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478		NA											False	0	False	10:124399679	0
