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
MUC6	4588	broad.mit.edu	37	11	1025891	1025892	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1025891_1025892insT	ENST00000421673.2	-	22	2762_2763	c.2712_2713insA	c.(2710-2715)tcacagfs	p.Q905fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	905	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGTGGGCTGTGAGTCGTTGA	0.658		NA											False	1	False	11:1025891	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
SMAD4	4089	broad.mit.edu	37	18	48593491	48593494	+	Frame_Shift_Del	DEL	AGAC	AGAC	-	rs80338965		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	AGAC	AGAC	-	-	AGAC	AGAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr18:48593491_48593494delAGAC	ENST00000588745.1	+	6	954_957	c.954_957delAGAC	c.(952-957)ttagacfs	p.LD318fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.LD414fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.LD414fs			Q13485	SMAD4_HUMAN	SMAD family member 4	414	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTACTTAGACAGAGAAGCTG	0.412		NA											False	1	False	18:48593491	0
STK11	6794	broad.mit.edu	37	19	1207092	1207092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:1207092delC	ENST00000326873.7	+	1	1353	c.180delC	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTCTTACGGCAAGGTGA	0.622		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			False	1	False	19:1207092	0
SP140	11262	broad.mit.edu	37	2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000343805.6	+	7	845_846	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.249_249R>ISESVCNFHIISLD*W	SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	275					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48		NA											False	0	False	2:231112711	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
PRTFDC1	56952	broad.mit.edu	37	10	25226219	25226219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:25226219delC	ENST00000320152.6	-	3	261	c.233delG	c.(232-234)ggtfs	p.G78fs	PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	78					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GAATTTGTAACCTCCTTTAAG	0.378		NA											False	2	False	10:25226219	0
SPHKAP	80309	broad.mit.edu	37	2	228860288	228860288	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:228860288G>A	ENST00000392056.3	-	8	4617	c.4571C>T	c.(4570-4572)gCc>gTc	p.A1524V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTCATTGGCAAGCTGGGT	0.572		NA											False	0	False	2:228860288	0
MYADM	91663	broad.mit.edu	37	19	54377360	54377360	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:54377360G>T	ENST00000391769.2	+	3	857	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	193	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCATCAGCGACCCCAACCT	0.642		NA											False	0	False	19:54377360	0
PHGDH	26227	broad.mit.edu	37	1	120263916	120263916	+	Missense_Mutation	SNP	G	G	A	rs142988234		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:120263916G>A	ENST00000369407.3	+	1	1667	c.160G>A	c.(160-162)Gca>Aca	p.A54T	PHGDH_ENST00000369409.4_Missense_Mutation_p.A88T			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	88					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TCTGGAGGCCGCAACAAGGAA	0.587		NA											False	0	False	1:120263916	0
TNFAIP3	7128	broad.mit.edu	37	6	138199962	138199962	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:138199962C>T	ENST00000237289.4	+	7	1446	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	460	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCATTCGGCCCCACCGACAG	0.642		NA	"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								False	0	True	6:138199962	0
KDELC2	143888	broad.mit.edu	37	11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108356954C>T	ENST00000434945.2	-	2	748	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378		NA											False	0	False	11:108356954	0
LIMK2	3985	broad.mit.edu	37	22	31658176	31658176	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr22:31658176G>A	ENST00000331728.4	+	6	722	c.608G>A	c.(607-609)cGc>cAc	p.R203H	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.R125H|LIMK2_ENST00000340552.4_Missense_Mutation_p.R182H|LIMK2_ENST00000333611.4_Missense_Mutation_p.R182H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	203	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCTGGGGACCGCATCCTGGAG	0.547		NA											False	0	False	22:31658176	0
USH2A	7399	broad.mit.edu	37	1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:216495296C>T	ENST00000366943.2	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000307340.3_Missense_Mutation_p.D525N|USH2A_ENST00000366942.3_Missense_Mutation_p.D525N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443		NA								HNSCC(13;0.011)			False	0	False	1:216495296	0
ESPL1	9700	broad.mit.edu	37	12	53681786	53681786	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:53681786G>A	ENST00000257934.4	+	19	4298	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGACTTGGAAGACCCTGTCTC	0.582		NA									OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:53681786	0
CCT3	7203	broad.mit.edu	37	1	156280946	156280946	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156280946C>T	ENST00000295688.3	-	12	1476	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	399					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAACATTGCGACACACTTG	0.537		NA											False	0	False	1:156280946	0
OR1J2	26740	broad.mit.edu	37	9	125273336	125273336	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:125273336C>T	ENST00000335302.5	+	1	256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATGGACATGCGGACTAAGTA	0.428		NA											False	0	False	9:125273336	0
ST8SIA4	7903	broad.mit.edu	37	5	100191950	100191950	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:100191950C>A	ENST00000231461.5	-	4	964	c.654G>T	c.(652-654)ctG>ctT	p.L218L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	218					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CACTGTCATTCAGCATGGAAA	0.398		NA											False	0	False	5:100191950	0
ZNF557	79230	broad.mit.edu	37	19	7083689	7083689	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:7083689C>T	ENST00000414706.1	+	8	1700	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C	ZNF557_ENST00000439035.2_Silent_p.C402C|ZNF557_ENST00000252840.6_Silent_p.C409C	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTAATTATTGCGGGAAATCCT	0.368		NA											False	0	True	19:7083689	0
STAB2	55576	broad.mit.edu	37	12	104147083	104147083	+	Silent	SNP	C	C	T	rs139125034		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:104147083C>T	ENST00000388887.2	+	61	6870	c.6666C>T	c.(6664-6666)aaC>aaT	p.N2222N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2222	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCCAACGAAGCTGCGA	0.552		NA											False	0	False	12:104147083	0
CES1P1	0	broad.mit.edu	37	16	55803970	55803970	+	RNA	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:55803970A>G	ENST00000571348.1	+	0	545					NR_003276.2					NA											NA						GGTGGTGGTGACCATTCAATA	0.577		NA											False	0	True	16:55803970	0
BEST1	7439	broad.mit.edu	37	11	61730184	61730184	+	Missense_Mutation	SNP	G	G	A	rs61747600		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:61730184G>A	ENST00000449131.2	+	9	1464	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	520					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAGAGAGCGATGGGGCCTT	0.468		NA											False	0	False	11:61730184	0
ANKDD1A	348094	broad.mit.edu	37	15	65219105	65219105	+	Silent	SNP	G	G	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:65219105G>C	ENST00000380230.3	+	6	506	c.477G>C	c.(475-477)ggG>ggC	p.G159G	ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000319580.8_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000395720.1_Silent_p.G159G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	159					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCAGCTGGGGAGGACGGCGT	0.622		NA											False	0	True	15:65219105	0
DISP1	84976	broad.mit.edu	37	1	223176847	223176847	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:223176847G>T	ENST00000284476.6	+	8	2272	c.2108G>T	c.(2107-2109)cGa>cTa	p.R703L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	703					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAGCATCTCGAATTTTTTTC	0.418		NA											False	0	False	1:223176847	0
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577		NA											False	0	True	14:19553823	0
FMO5	2330	broad.mit.edu	37	1	146672844	146672844	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:146672844G>A	ENST00000254090.4	-	7	1461	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	358						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAGGTTAGGAGGGAAGACCTT	0.468		NA											False	0	True	1:146672844	0
PTRF	284119	broad.mit.edu	37	17	40557270	40557270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:40557270G>T	ENST00000357037.5	-	2	1027	c.608C>A	c.(607-609)tCg>tAg	p.S203*		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	203					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCCTCGTCCGACGAAAGCTC	0.662		NA											False	0	False	17:40557270	0
SLCO3A1	28232	broad.mit.edu	37	15	92690367	92690367	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:92690367C>T	ENST00000318445.6	+	8	1880	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	556					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACAGACACCCTCAGTCAT	0.582		NA											False	0	True	15:92690367	0
SKOR1	390598	broad.mit.edu	37	15	68119541	68119541	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:68119541A>T	ENST00000380035.2	+	2	1433	c.1375A>T	c.(1375-1377)Atg>Ttg	p.M459L	SKOR1_ENST00000554240.1_Missense_Mutation_p.M420L|SKOR1_ENST00000389002.1_Missense_Mutation_p.M415L|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Missense_Mutation_p.M431L			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	459					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						cggcggcgccATGTTCTGGGG	0.781		NA											False	0	False	15:68119541	0
TBCB	1155	broad.mit.edu	37	19	36616597	36616597	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:36616597C>T	ENST00000221855.3	+	6	1223	c.648C>T	c.(646-648)tgC>tgT	p.C216C	TBCB_ENST00000585746.1_Silent_p.C165C|TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	216	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	p.C216C(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTCGAATGCCAGGCCAAGT	0.562		NA											False	0	False	19:36616597	0
ZNF7	7553	broad.mit.edu	37	8	146067242	146067242	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:146067242C>T	ENST00000528372.1	+	5	990	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	250					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAAGCCGTACGAATGTGCAG	0.438		NA											False	0	False	8:146067242	0
PLRG1	5356	broad.mit.edu	37	4	155458483	155458483	+	Silent	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:155458483A>C	ENST00000499023.2	-	14	1566	c.1440T>G	c.(1438-1440)gcT>gcG	p.A480A	PLRG1_ENST00000302078.5_Silent_p.A471A|PLRG1_ENST00000393905.2_Silent_p.A480A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	480						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATCAGCTTCAGCTGTTAGTA	0.408		NA											False	0	True	4:155458483	0
HRNR	388697	broad.mit.edu	37	1	152192788	152192788	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617		NA											False	0	False	1:152192788	0
NDEL1	81565	broad.mit.edu	37	17	8370257	8370257	+	Missense_Mutation	SNP	C	C	T	rs138863036	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8370257C>T	ENST00000380025.4	+	8	960	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000585098.1_Intron			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GGGCAGTAAACGGCTTTGACC	0.537		NA											False	0	True	17:8370257	0
FOXF1	2294	broad.mit.edu	37	16	86544628	86544628	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:86544628C>A	ENST00000262426.4	+	1	496	c.453C>A	c.(451-453)ctC>ctA	p.L151L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	151					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCAGGCGCTCAAGCCCATGT	0.667		NA											False	0	False	16:86544628	0
GPR179	440435	broad.mit.edu	37	17	36485562	36485562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36485562G>T	ENST00000342292.4	-	11	3910	c.3890C>A	c.(3889-3891)tCa>tAa	p.S1297*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1297						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATGGGCTCTGATTTTCCCCG	0.582		NA											False	0	False	17:36485562	0
ITGAV	3685	broad.mit.edu	37	2	187506230	187506230	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:187506230G>T	ENST00000261023.3	+	12	1348	c.1074G>T	c.(1072-1074)acG>acT	p.T358T	ITGAV_ENST00000374907.3_Silent_p.T322T|ITGAV_ENST00000433736.2_Silent_p.T312T|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	358					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCCAGACGACAAAGCTGA	0.498		NA											False	0	False	2:187506230	0
MYBPH	4608	broad.mit.edu	37	1	203138180	203138180	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138180C>T	ENST00000255416.4	-	9	1328	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTTGGGGTTGCCCTGGATCTC	0.567		NA											False	0	True	1:203138180	0
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	NA					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433		NA											False	0	True	11:89405142	0
FAM83H	286077	broad.mit.edu	37	8	144812372	144812372	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:144812372C>T	ENST00000388913.3	-	2	506	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	127					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCGGTGGCTGCACCAAGG	0.642		NA											False	0	False	8:144812372	0
DICER1	23405	broad.mit.edu	37	14	95590833	95590833	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:95590833C>T	ENST00000526495.1	-	10	1367	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	359	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTGCTCTTCACATAGTGCATG	0.373		NA	"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95590833	0
USP20	0	broad.mit.edu	37	9	132623286	132623286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:132623286C>A	ENST00000315480.4	+	7	559	c.401C>A	c.(400-402)tCa>tAa	p.S134*	USP20_ENST00000358355.1_Nonsense_Mutation_p.S134*|USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	134					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTCTGAGTCAGAGGACGAT	0.577		NA											False	0	False	9:132623286	0
PTPRK	5796	broad.mit.edu	37	6	128294292	128294292	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:128294292C>A	ENST00000368227.3	-	30	4561	c.4195G>T	c.(4195-4197)Ggg>Tgg	p.G1399W	PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1381W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1381	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACTTCGCCCGCCACCATTT	0.428		NA											False	0	True	6:128294292	0
LDHAL6B	92483	broad.mit.edu	37	15	59499545	59499545	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:59499545G>A	ENST00000307144.4	+	1	504	c.406G>A	c.(406-408)Gca>Aca	p.A136T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CTTTGTCACAGCAAACTCCAA	0.428		NA											False	0	False	15:59499545	0
CEP89	84902	broad.mit.edu	37	19	33406284	33406284	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:33406284G>T	ENST00000305768.5	-	14	1612	c.1524C>A	c.(1522-1524)atC>atA	p.I508I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	NA						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTTCCACTGCGATTTTGCCAT	0.393		NA											False	0	False	19:33406284	0
RNF40	9810	broad.mit.edu	37	16	30778186	30778186	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:30778186A>G	ENST00000324685.6	+	11	1853	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	RNF40_ENST00000402121.3_Missense_Mutation_p.N165S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000563683.1_Missense_Mutation_p.N433S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	473					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGGCGGCCAACGAGCAGGCG	0.602		NA											False	0	False	16:30778186	0
DSCAML1	57453	broad.mit.edu	37	11	117387332	117387332	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:117387332G>A	ENST00000321322.6	-	8	1814	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	DSCAML1_ENST00000527706.1_Silent_p.L335L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	545	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCTGGCAGCAGCAGGGCA	0.582		NA											False	0	True	11:117387332	0
WAPAL	23063	broad.mit.edu	37	10	88260206	88260206	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:88260206T>G	ENST00000298767.5	-	3	1266	c.794A>C	c.(793-795)gAt>gCt	p.D265A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAATCGTCATCCTTCATCTC	0.363		NA											False	0	False	10:88260206	0
NEB	4703	broad.mit.edu	37	2	152466350	152466350	+	Silent	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:152466350T>C	ENST00000397345.3	-	81	12505	c.12303A>G	c.(12301-12303)gcA>gcG	p.A4101A	NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000172853.10_Silent_p.A3858A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4100					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCCTTTTTTGCTTGGATAA	0.448		NA											False	0	True	2:152466350	0
TNC	3371	broad.mit.edu	37	9	117846677	117846677	+	Missense_Mutation	SNP	G	G	A	rs149181557	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117846677G>A	ENST00000350763.4	-	4	2353	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	648	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTGTGACCCGCATCTCATTG	0.562		NA											False	0	True	9:117846677	0
BRD2	6046	broad.mit.edu	37	6	32945220	32945220	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32945220G>A	ENST00000395289.2	+	8	2803	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	BRD2_ENST00000395287.1_Splice_Site_p.R401Q|BRD2_ENST00000374831.4_Splice_Site_p.R401Q|BRD2_ENST00000374825.4_Splice_Site_p.R401Q|BRD2_ENST00000443797.2_Splice_Site_p.R281Q|BRD2_ENST00000449085.2_Splice_Site_p.R354Q			P25440	BRD2_HUMAN	bromodomain containing 2	401	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTTCTGCAGCGGAAGATGGAG	0.527		NA											False	0	False	6:32945220	0
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388		NA											False	0	False	19:35232318	0
TTC13	79573	broad.mit.edu	37	1	231044752	231044752	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:231044752G>A	ENST00000366661.4	-	21	2331	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	TTC13_ENST00000366662.4_Missense_Mutation_p.S721L|TTC13_ENST00000414259.1_Missense_Mutation_p.S722L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	775							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CACGATGACCGAGTAAGCAAT	0.423		NA											False	0	False	1:231044752	0
SPTLC1	10558	broad.mit.edu	37	9	94812277	94812277	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:94812277G>T	ENST00000262554.2	-	9	858	c.853C>A	c.(853-855)Cat>Aat	p.H285N		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	285						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCGGCCATGCTCTCCTAGG	0.383		NA											False	0	False	9:94812277	0
TBC1D3F	84218	broad.mit.edu	37	17	36288204	36288204	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36288204G>T	ENST00000539424.1	+	2	1715	c.50G>T	c.(49-51)cGa>cTa	p.R17L	TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R97L|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.R97L|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R97L			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	97						intracellular	Rab GTPase activator activity	p.R97Q(1)|p.R97L(1)		liver(1)|pancreas(1)	2						CTCATAGATCGAGCGTACAAG	0.547		NA											False	0	False	17:36288204	0
TEX37	200523	broad.mit.edu	37	2	88828905	88828905	+	Silent	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:88828905A>G	ENST00000303254.3	+	4	598	c.456A>G	c.(454-456)ctA>ctG	p.L152L		NM_152670.2	NP_689883.1			testis expressed 37	NA											NA						GCTACCTGCTACTGCCAGGGT	0.552		NA											False	0	False	2:88828905	0
EMC10	284361	broad.mit.edu	37	19	50981234	50981234	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:50981234C>T	ENST00000376918.3	+	2	209	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	EMC10_ENST00000598585.1_Silent_p.L55L|EMC10_ENST00000334976.6_Silent_p.L55L	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10	NA											NA						GGTGGGGCTGCTGCTGGAGCA	0.602		NA											False	0	True	19:50981234	0
CACNA1B	774	broad.mit.edu	37	9	140968501	140968501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:140968501G>A	ENST00000277549.5	+	34	4991	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1614					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1614S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCATCTACGCCATCATCGG	0.622		NA											False	0	False	9:140968501	0
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602		NA											False	0	False	1:156812204	0
NPAP1	23742	broad.mit.edu	37	15	24922535	24922535	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:24922535C>A	ENST00000329468.2	+	1	1995	c.1521C>A	c.(1519-1521)ttC>ttA	p.F507L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	NA											NA						CACCCTCCTTCAAGCCTCCCG	0.537		NA											False	0	False	15:24922535	0
FOXD4	2298	broad.mit.edu	37	9	117739	117739	+	Silent	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117739G>T	ENST00000382500.2	-	1	678	c.381C>A	c.(379-381)ctC>ctA	p.L127L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	127					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGATGCCGCTGAGCGTGAGGC	0.637		NA											False	0	False	9:117739	0
RIMS2	9699	broad.mit.edu	37	8	105026833	105026833	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:105026833G>A	ENST00000507740.1	+	17	3002	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	RIMS2_ENST00000436393.2_Silent_p.T848T|RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000406091.3_Silent_p.T1108T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1170					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGGGAACGTTGGATAGAA	0.438		NA								HNSCC(12;0.0054)			False	0	False	8:105026833	0
NLK	51701	broad.mit.edu	37	17	26495642	26495642	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:26495642G>A	ENST00000407008.3	+	6	1724	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	336	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAACTACTAGGACGAAGAAT	0.413		NA											False	0	False	17:26495642	0
GABPB2	126626	broad.mit.edu	37	1	151063024	151063024	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:151063024C>T	ENST00000368918.3	+	3	582	c.251C>T	c.(250-252)gCg>gTg	p.A84V	GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	84					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGGACATGCGCACATCGTG	0.488		NA											False	0	False	1:151063024	0
SLX4	84464	broad.mit.edu	37	16	3639154	3639154	+	Silent	SNP	C	C	T	rs140872903		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:3639154C>T	ENST00000294008.3	-	12	5125	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCAGGGAGCCCGCGCCCGAGG	0.647		NA						Direct reversal of damage					False	0	True	16:3639154	0
SCN1A	6323	broad.mit.edu	37	2	166911170	166911170	+	Missense_Mutation	SNP	C	C	A	rs121917935		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:166911170C>A	ENST00000423058.2	-	4	597	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	SCN1A_ENST00000303395.4_Missense_Mutation_p.D194Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	194			D -> N (in SMEI; dbSNP:rs121917935).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGTGAAATCGAGCCAGTTC	0.338		NA											False	0	False	2:166911170	0
SLC6A9	6536	broad.mit.edu	37	1	44463241	44463241	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463241G>A	ENST00000372310.3	-	14	2043	c.1878C>T	c.(1876-1878)agC>agT	p.S626S	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	699						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTGGAGGCGGCTGGAGCCAT	0.677		NA											False	0	False	1:44463241	0
NLRP13	126204	broad.mit.edu	37	19	56416346	56416346	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:56416346C>T	ENST00000588751.1	-	8	2604	c.2580G>A	c.(2578-2580)gcG>gcA	p.A860A	NLRP13_ENST00000342929.3_Silent_p.A860A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTCAGGGCCGCACACAATA	0.468		NA											False	0	False	19:56416346	0
ARHGAP22	58504	broad.mit.edu	37	10	49667870	49667870	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:49667870C>T	ENST00000249601.4	-	5	812	c.516G>A	c.(514-516)gcG>gcA	p.A172A	ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000417247.2_Silent_p.A82A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	172	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCAGGGGCGCCAGGCGGG	0.652		NA											False	0	True	10:49667870	0
GTF3C1	2975	broad.mit.edu	37	16	27481702	27481702	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:27481702C>A	ENST00000356183.4	-	31	4556	c.4541G>T	c.(4540-4542)cGa>cTa	p.R1514L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1514						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTTGGAAATCGCCACGTAAA	0.502		NA											False	0	False	16:27481702	0
ZDHHC2	51201	broad.mit.edu	37	8	17067927	17067927	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:17067927C>T	ENST00000262096.8	+	10	1583	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	296						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTCCAACTTGCCTTGTTAACC	0.368		NA											False	0	False	8:17067927	0
GAR1	54433	broad.mit.edu	37	4	110740164	110740164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:110740164C>A	ENST00000226796.6	+	4	641	c.377C>A	c.(376-378)tCa>tAa	p.S126*	GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299		NA											False	0	True	4:110740164	0
FAT2	2196	broad.mit.edu	37	5	150947407	150947407	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:150947407G>T	ENST00000261800.5	-	1	1098	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547		NA											False	0	False	5:150947407	0
ATP5B	506	broad.mit.edu	37	12	57037629	57037629	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:57037629C>T	ENST00000262030.3	-	4	649	c.599G>A	c.(598-600)gGc>gAc	p.G200D	ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	200					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAATTTTGCCACCCTTGGC	0.418		NA											False	0	False	12:57037629	0
TRAV3	0	broad.mit.edu	37	14	22192277	22192277	+	RNA	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:22192277C>T	ENST00000390425.2	+	0	228										NA											NA						TACAGGTGGGCTGAGAGCTCA	0.478		NA											False	0	True	14:22192277	0
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA											False	0	False	4:186544317	0
SLC18A3	6572	broad.mit.edu	37	10	50820227	50820227	+	Nonsense_Mutation	SNP	G	G	T	rs144340824		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:50820227G>T	ENST00000374115.3	+	1	1881	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	481					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCCCGTTCCGAGCGCGATGT	0.657		NA											False	0	False	10:50820227	0
CXCR4	0	broad.mit.edu	37	2	136873279	136873279	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:136873279C>T	ENST00000409817.1	-	1	534	c.231G>A	c.(229-231)acG>acA	p.T77T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.T73T	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	73					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.T77T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGTACTTGTCCGTCATGCTTC	0.517		NA											False	0	False	2:136873279	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323		NA											False	0	False	7:35930362	0
ASPM	259266	broad.mit.edu	37	1	197062244	197062244	+	Nonsense_Mutation	SNP	C	C	A	rs36074161		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197062244C>A	ENST00000367409.4	-	21	9488	c.9232G>T	c.(9232-9234)Gaa>Taa	p.E3078*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3078					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTAAATTCAATATATTTT	0.363		NA											False	0	False	1:197062244	0
F13B	2165	broad.mit.edu	37	1	197032085	197032085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197032085G>T	ENST00000367412.1	-	2	210	c.167C>A	c.(166-168)tCa>tAa	p.S56*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	56	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCAGAAAAATGACAATTTTTT	0.398		NA											False	0	False	1:197032085	0
NPAS3	64067	broad.mit.edu	37	14	34269465	34269465	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:34269465A>T	ENST00000346562.2	+	11	1930	c.1856A>T	c.(1855-1857)gAg>gTg	p.E619V	NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCAAGACGGAGATCTCAGAA	0.627		NA											False	0	False	14:34269465	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA											False	0	False	2:112608394	0
ADCY10	55811	broad.mit.edu	37	1	167865890	167865890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:167865890C>A	ENST00000367848.1	-	7	903	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75*|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E228*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	228	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGAAAAATTCATCAAAATTA	0.358		NA											False	0	False	1:167865890	0
SV2A	0	broad.mit.edu	37	1	149882423	149882423	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:149882423C>T	ENST00000369146.3	-	4	1400	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	304					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGTACACGCCACCAATCATC	0.562		NA											False	0	False	1:149882423	0
ZNF219	0	broad.mit.edu	37	14	21561128	21561128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:21561128C>A	ENST00000360947.3	-	3	739	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	110					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTGGGCGCTCGGGCTGGTGT	0.721		NA									OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:21561128	0
PRG4	10216	broad.mit.edu	37	1	186269304	186269304	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:186269304A>C	ENST00000445192.2	+	3	203	c.158A>C	c.(157-159)tAc>tCc	p.Y53S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	53	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCAACACTACATGGAGTGC	0.483		NA											False	0	False	1:186269304	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	12:25380275	0
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483		NA											False	0	False	7:141766505	0
APOA4	337	broad.mit.edu	37	11	116692155	116692155	+	Nonsense_Mutation	SNP	C	C	A	rs145184607		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:116692155C>A	ENST00000357780.3	-	3	733	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_000482.3	NP_000473.2			apolipoprotein A-IV	NA										cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTTTGAATTCGTCAGCGTAG	0.622		NA											False	0	False	11:116692155	0
SLC6A9	6536	broad.mit.edu	37	1	44463406	44463406	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463406C>A	ENST00000372310.3	-	14	1878	c.1713G>T	c.(1711-1713)ttG>ttT	p.L571F	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	644						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCATTTTTCAAACGCTGCA	0.647		NA											False	0	True	1:44463406	0
MS4A3	932	broad.mit.edu	37	11	59837071	59837071	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59837071C>T	ENST00000278865.3	+	6	611	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	180						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACTGCTGATTCTCACCTTGCT	0.413		NA											False	0	False	11:59837071	0
MYBPH	4608	broad.mit.edu	37	1	203138179	203138179	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138179G>A	ENST00000255416.4	-	9	1329	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATTTGGGGTTGCCCTGGATCT	0.562		NA											False	0	True	1:203138179	0
KLHL31	401265	broad.mit.edu	37	6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:53519025G>A	ENST00000370905.3	-	2	1186	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483		NA											False	0	False	6:53519025	0
TAS2R20	259295	broad.mit.edu	37	12	11149731	11149731	+	Silent	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11149731C>T	ENST00000538986.1	-	1	743	c.744G>A	c.(742-744)tcG>tcA	p.S248S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	248					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AATTCCAAAACGATATGATTA	0.378		NA											False	0	True	12:11149731	0
OR5A1	219982	broad.mit.edu	37	11	59211572	59211572	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59211572A>G	ENST00000302030.2	+	1	956	c.931A>G	c.(931-933)Aag>Gag	p.K311E		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGAAAGGAAGAAAGTGTT	0.438		NA											False	0	False	11:59211572	0
CD207	50489	broad.mit.edu	37	2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428		NA											False	0	True	2:71060828	0
TNS3	64759	broad.mit.edu	37	7	47407972	47407972	+	Silent	SNP	G	G	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632		NA											False	0	True	7:47407972	0
PCDHB8	0	broad.mit.edu	37	5	140559512	140559512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:140559512G>T	ENST00000239444.2	+	1	2142	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.692		NA											False	0	True	5:140559512	0
PLEKHG2	64857	broad.mit.edu	37	19	39908691	39908691	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:39908691G>T	ENST00000425673.1	+	9	1354	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	343	PH.				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	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCGGATGCTGCTGGTGG	0.612		NA											False	0	False	19:39908691	0
NAA25	80018	broad.mit.edu	37	12	112516479	112516479	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:112516479C>A	ENST00000261745.4	-	6	792	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	182						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						ACCATTTTTTCGACCATTCTC	0.348		NA											False	0	True	12:112516479	0
BTBD7	55727	broad.mit.edu	37	14	93761248	93761248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:93761248C>A	ENST00000334746.5	-	3	425	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	40										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AACTTTGATTCGCAACCATAG	0.348		NA											False	0	False	14:93761248	0
OR2M5	127059	broad.mit.edu	37	1	248309316	248309316	+	Silent	SNP	C	C	A			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248309316C>A	ENST00000366476.1	+	1	867	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCCCCTCATCTACAGCCTCC	0.493		NA											False	0	False	1:248309316	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971186	0
SORBS2	8470	broad.mit.edu	37	4	186544436	186544436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544436G>T	ENST00000431808.1	-	14	2698	c.2135C>A	c.(2134-2136)tCg>tAg	p.S712*	SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.S712*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	712						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTTAGGAGCCGAATTTTTTTT	0.448		NA											False	0	False	4:186544436	0
HYOU1	10525	broad.mit.edu	37	11	118919004	118919004	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118919004C>T	ENST00000404233.3	-	20	2456	c.2332G>A	c.(2332-2334)Gca>Aca	p.A778T	HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T|HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	778						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CAGGTGGATGCGGCGCTGAGC	0.617		NA											False	0	False	11:118919004	0
