Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HSPA2	3306	broad.mit.edu	37	14	65009310	65009310	+	Silent	SNP	C	C	T	rs147636387		TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr14:65009310C>T	ENST00000247207.6	+	1	2125	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	HSPA2_ENST00000394709.1_Silent_p.I581I	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	581					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGGAGGTGATCAACTGGCTCG	0.473000													30	53					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18955519	18955519	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr10:18955519T>C	ENST00000377275.3	+	2	295	c.62T>C	c.(61-63)aTa>aCa	p.I21T		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	21					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						AAAGTAATTATAGTGGGACTG	0.308000													11	24					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132591563	132591563	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr9:132591563G>T	ENST00000372447.3	-	8	752	c.699C>A	c.(697-699)aaC>aaA	p.N233K	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	233										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GTATGGGCGCGTTGAGCTCCT	0.557000													12	23					2.80697e-09	2.97813e-09	1	1	0
ZNF682	91120	broad.mit.edu	37	19	20117620	20117620	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr19:20117620A>G	ENST00000397165.2	-	4	851	c.691T>C	c.(691-693)Tgt>Cgt	p.C231R	ZNF682_ENST00000597972.1_Missense_Mutation_p.C237R|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.C155R|ZNF682_ENST00000358523.5_Missense_Mutation_p.C199R|ZNF682_ENST00000397162.1_Missense_Mutation_p.C199R	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CATTCTTCACATTTGTATGGT	0.378000													12	17					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29599332	29599332	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr6:29599332G>A	ENST00000377034.4	-	3	465	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	GABBR1_ENST00000376977.3_Missense_Mutation_p.R44W|GABBR1_ENST00000377016.4_Missense_Mutation_p.R44W	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	44	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTCAGGCCCCGGTACCTGATG	0.602000													38	85					0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28318476	28318476	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr11:28318476C>T	ENST00000342303.5	+	6	1231	c.776C>T	c.(775-777)gCa>gTa	p.A259V	METTL15_ENST00000406787.3_Silent_p.C244C|METTL15_ENST00000407364.3_Missense_Mutation_p.A259V|METTL15_ENST00000303459.6_Missense_Mutation_p.A259V	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	259							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCATCGTTGCAGGTAGCCTC	0.468000													20	34					0	0	1	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952430	95952430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr8:95952430G>C	ENST00000342697.4	-	3	538	c.131C>G	c.(130-132)tCa>tGa	p.S44*	TP53INP1_ENST00000378776.4_Nonsense_Mutation_p.S44*|TP53INP1_ENST00000448464.2_Nonsense_Mutation_p.S44*|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	44	Glu-rich.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TTCTTCTGCTGAGAAACCAGT	0.463000													11	19					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109336	21109336	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr14:21109336T>C	ENST00000320704.3	-	1	514	c.515A>G	c.(514-516)aAg>aGg	p.K172R		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGCACCCTGCTTACAGAAAGG	0.602000													21	28					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29735056	29735056	+	Missense_Mutation	SNP	C	C	T	rs145640648	by1000genomes	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr22:29735056C>T	ENST00000357586.2	-	16	2272	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S|AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S|AP1B1_ENST00000405198.1_Missense_Mutation_p.G696S|AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000472057.1_5'UTR	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	696	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGCCACTGCCGATGGGTGCT	0.567000													44	79					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15468426	15468426	+	Missense_Mutation	SNP	C	C	T	rs148644578	byFrequency	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr2:15468426C>T	ENST00000281513.5	-	37	4383	c.4358G>A	c.(4357-4359)tGt>tAt	p.C1453Y	NBAS_ENST00000441750.1_Missense_Mutation_p.C1333Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1453										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCACCACCACATTTTTGCCC	0.383000													31	48					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165944	53165944	+	Silent	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr12:53165944G>A	ENST00000332411.2	-	5	1124	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	357	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGGGCGCGGACCTCGGCAA	0.587000													17	26					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21675544	21675544	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr7:21675544T>A	ENST00000328843.6	+	26	4602	c.4571T>A	c.(4570-4572)gTg>gAg	p.V1524E	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.V1519E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1524	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTGAGCAAGTGTTAAGCTGG	0.353000									Kartagener syndrome				4	9					0	0	1	0	0
PPP2CB	5516	broad.mit.edu	37	8	30657142	30657142	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr8:30657142T>C	ENST00000221138.4	-	2	682	c.232A>G	c.(232-234)Aca>Gca	p.T78A	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	78					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AAGTAGTTTGTATCCGGTGAT	0.383000													22	43					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803656	1803656	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr4:1803656C>T	ENST00000340107.4	+	7	1090	c.834C>T	c.(832-834)taC>taT	p.Y278Y	FGFR3_ENST00000440486.2_Silent_p.Y278Y|FGFR3_ENST00000260795.2_Silent_p.Y278Y|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Silent_p.Y278Y|FGFR3_ENST00000352904.1_Silent_p.Y278Y|FGFR3_ENST00000412135.2_Silent_p.Y278Y	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	278	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCAAGGTGTACAGTGACGCAC	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				12	15					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411798	105411798	+	Silent	SNP	C	C	A	rs150114169	by1000genomes	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr14:105411798C>A	ENST00000333244.5	-	7	10109	c.9990G>T	c.(9988-9990)tcG>tcT	p.S3330S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3330						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACATCCACCGAGGCCTGGA	0.597000													79	137					5.21738e-30	6.05216e-30	1	1	0
ATRIP	84126	broad.mit.edu	37	3	48500779	48500779	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:48500779G>A	ENST00000412052.1	+	6	1034	c.572G>A	c.(571-573)aGa>aAa	p.R191K	ATRIP_ENST00000320211.3_Missense_Mutation_p.R284K|ATRIP_ENST00000357105.6_Missense_Mutation_p.R157K|ATRIP_ENST00000346691.4_Missense_Mutation_p.R284K	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	284					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACAGTCTGAGAGGTGACTCC	0.418000								Other conserved DNA damage response genes					5	23					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157841741	157841741	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:157841741A>G	ENST00000464171.1	+	3	406	c.281A>G	c.(280-282)tAt>tGt	p.Y94C	RSRC1_ENST00000312179.6_Missense_Mutation_p.Y94C|RSRC1_ENST00000480820.1_Missense_Mutation_p.Y94C|RSRC1_ENST00000295930.3_Missense_Mutation_p.Y94C|RSRC1_ENST00000475278.2_Missense_Mutation_p.Y94C	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	94	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGGAAATCCTATAGAGTTCAG	0.393000													24	26					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29397660	29397660	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr15:29397660C>T	ENST00000558402.1	+	12	2202	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	APBA2_ENST00000558259.1_Missense_Mutation_p.P535S|APBA2_ENST00000558330.1_Missense_Mutation_p.P523S|APBA2_ENST00000411764.1_Missense_Mutation_p.P523S|APBA2_ENST00000561069.1_Missense_Mutation_p.P535S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	535	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGCATCAACCCCGAAGACTT	0.572000													13	24					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204787	34204787	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:34204787C>T	ENST00000373381.4	-	15	2498	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	734	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCTCCTTCAGGACGCAGG	0.617000													11	14					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44065412	44065412	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr15:44065412A>T	ENST00000319359.3	-	11	1737	c.1096T>A	c.(1096-1098)Tac>Aac	p.Y366N	PDIA3_ENST00000300289.5_3'UTR|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	366					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCTTCTCTGTAACTTGGGTAC	0.443000													25	40					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626709	122626709	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr8:122626709C>A	ENST00000303924.4	-	4	1836	c.1299G>T	c.(1297-1299)atG>atT	p.M433I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	433						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATGAAGACCATGACGATAT	0.423000													33	72					1.61788e-16	1.82799e-16	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70562835	70562835	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:70562835G>T	ENST00000302516.5	+	3	341	c.130G>T	c.(130-132)Gac>Tac	p.D44Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	44					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTTCGCCCAGACCCCAACAC	0.463000													12	29					1.08611e-07	1.13845e-07	1	1	0
PAK7	57144	broad.mit.edu	37	20	9546583	9546583	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr20:9546583A>G	ENST00000378429.3	-	6	1985	c.1439T>C	c.(1438-1440)aTg>aCg	p.M480T	PAK7_ENST00000378423.1_Missense_Mutation_p.M480T|PAK7_ENST00000353224.5_Missense_Mutation_p.M480T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	480	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCGGAGGTCCATTTTCTTCAC	0.448000													55	104					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7810216	7810216	+	Silent	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr17:7810216T>C	ENST00000380358.4	+	30	4711	c.4710T>C	c.(4708-4710)cgT>cgC	p.R1570R	CHD3_ENST00000330494.7_Silent_p.R1511R|CHD3_ENST00000358181.4_Silent_p.R1511R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1511	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCAATGGGCGTTGGTCAATGC	0.597000													31	93					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745981	140745981	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr5:140745981T>C	ENST00000518069.1	+	1	2084	c.2084T>C	c.(2083-2085)gTg>gCg	p.V695A	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCTTGTGGTGGCAGTGGCT	0.592000													112	197					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2539047	2539047	+	Silent	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr18:2539047G>C	ENST00000574538.1	-	9	2146	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	METTL4_ENST00000319888.6_3'UTR	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	457					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GCTGAAATTTGAGAACTTCAT	0.393000													22	44					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62522172	62522172	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:62522172A>T	ENST00000383710.4	-	12	2400	c.2051T>A	c.(2050-2052)aTg>aAg	p.M684K	CADPS_ENST00000357948.3_Splice_Site_p.M684K|CADPS_ENST00000283269.9_Missense_Mutation_p.M684K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	684					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCGTTGTACCATCTCAAAGAG	0.373000													20	40					0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121047205	121047205	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr2:121047205G>A	ENST00000272519.5	+	4	643	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	RALB_ENST00000474855.2_Missense_Mutation_p.V147I|RALB_ENST00000404963.3_Missense_Mutation_p.V146I|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.V125I	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	125					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				TCCACTGCTCGTCGTGGGAAA	0.507000													28	55					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012078	30012078	+	Splice_Site	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:30012078G>C	ENST00000563197.1	+	4	1222		c.e4-1		INO80E_ENST00000567705.1_Splice_Site|INO80E_ENST00000567254.1_Splice_Site|INO80E_ENST00000304516.7_Splice_Site	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E						DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCCATCACAGACTCAGATGC	0.547000													10	18					0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51888300	51888300	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr18:51888300A>G	ENST00000300091.5	+	3	903	c.571A>G	c.(571-573)Ata>Gta	p.I191V	C18orf54_ENST00000382911.4_Missense_Mutation_p.I191V|C18orf54_ENST00000578138.1_Intron	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	191						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ACGCTCAAATATAAATGGAAA	0.373000													7	17					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1723945	1723945	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:1723945A>G	ENST00000397412.3	+	21	3808	c.3709A>G	c.(3709-3711)Aat>Gat	p.N1237D	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.N612D|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.N1234D|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.N1237D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1237	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TTCTCGGTTCAATGACCTGGC	0.562000													22	33					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37815024	37815024	+	Silent	SNP	C	C	A	rs142935105	byFrequency	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr17:37815024C>A	ENST00000336308.5	+	7	815	c.597C>A	c.(595-597)tcC>tcA	p.S199S	STARD3_ENST00000394250.4_Silent_p.S181S|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Silent_p.S173S|STARD3_ENST00000544210.2_Silent_p.S199S	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	199	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCTGTTCTCCGGTGCTCTGT	0.617000													27	76					2.12542e-12	2.34065e-12	1	1	0
UTY	7404	broad.mit.edu	37	Y	15438105	15438105	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chrY:15438105A>G	ENST00000331397.4	-	17	3676	c.2669T>C	c.(2668-2670)aTt>aCt	p.I890T	UTY_ENST00000537580.1_Missense_Mutation_p.I811T|UTY_ENST00000329134.5_Missense_Mutation_p.I890T|UTY_ENST00000545955.1_Missense_Mutation_p.I965T|UTY_ENST00000382896.4_Missense_Mutation_p.I935T|UTY_ENST00000362096.4_Missense_Mutation_p.I890T|UTY_ENST00000538878.1_Missense_Mutation_p.I857T|UTY_ENST00000540140.1_Missense_Mutation_p.I887T	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	890					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ACTCACGTAAATACTAGGTGT	0.398000													38	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777766	237777766	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:237777766C>A	ENST00000366574.2	+	37	5655	c.5338C>A	c.(5338-5340)Cca>Aca	p.P1780T	RYR2_ENST00000542537.1_Missense_Mutation_p.P1764T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1778T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1780	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1778A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGTACAGTCCAGAGTTCCC	0.532000													29	41					9.39395e-14	1.04779e-13	1	1	0
CYP7B1	9420	broad.mit.edu	37	8	65537041	65537041	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr8:65537041G>T	ENST00000310193.3	-	2	351	c.178C>A	c.(178-180)Ctg>Atg	p.L60M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	60					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGTAAGTTCAGGACCACTCCA	0.378000													23	39					2.79863e-10	3.00594e-10	1	1	0
STAG1	10274	broad.mit.edu	37	3	136170920	136170920	+	Silent	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:136170920A>G	ENST00000383202.2	-	14	1639	c.1383T>C	c.(1381-1383)aaT>aaC	p.N461N	STAG1_ENST00000536929.1_Silent_p.N45N|STAG1_ENST00000434713.2_Silent_p.N235N|STAG1_ENST00000236698.5_Silent_p.N461N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	461					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGAGGTTTCCATTCGGGCTGT	0.348000													20	35					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49659797	49659797	+	Silent	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr15:49659797A>G	ENST00000299338.6	-	13	1422	c.1119T>C	c.(1117-1119)taT>taC	p.Y373Y		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		CAGTACTACTATAGTGCGACT	0.318000													4	16					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2214798	2214798	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr4:2214798C>T	ENST00000511885.2	-	4	542	c.189G>A	c.(187-189)agG>agA	p.R63R	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.R63R			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	63					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATTGAGTCTTCCTGTCTTCAA	0.299000								DNA polymerases (catalytic subunits)					3	10					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245180	166245180	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr2:166245180C>T	ENST00000357398.3	+	27	5154	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S	SCN2A_ENST00000283256.6_Missense_Mutation_p.P1622S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1622S|SCN2A_ENST00000375437.2_Missense_Mutation_p.P1622S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1622					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTGTGTCCCCTACCCTGTT	0.408000													23	44					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	347109	347109	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chrX:347109C>T	ENST00000390665.3	-	1	336	c.318G>A	c.(316-318)acG>acA	p.T106T		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	106					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTACTACTCTCGTCCCTGCGG	0.692000													6	17					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27669915	27669915	+	Silent	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr13:27669915T>C	ENST00000282344.6	-	4	652	c.396A>G	c.(394-396)ctA>ctG	p.L132L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	132					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTGTATTTAGTAGGTAATTTA	0.274000													8	12					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441772	61441772	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr2:61441772C>T	ENST00000398571.2	-	68	8181	c.8105G>A	c.(8104-8106)cGg>cAg	p.R2702Q	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2702					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTGTTGACCGGAACATCTG	0.443000													15	54					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407688	110407688	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr5:110407688T>A	ENST00000420978.2	+	2	1522	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	TSLP_ENST00000344895.3_Missense_Mutation_p.C34S			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	34						extracellular space	cytokine activity	p.C34S(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCACTAACTGTGACTTTGA	0.348000													15	29					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121195572	121195572	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:121195572G>A	ENST00000264233.5	-	20	6348	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2074					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACCTTACGGAAAACATCT	0.373000								DNA polymerases (catalytic subunits)					5	9					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36556922	36556922	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:36556922G>A	ENST00000373178.4	+	2	319	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	97						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GGCCTTTGACGAGGTGGACAT	0.577000													7	17					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124732354	124732354	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:124732354G>A	ENST00000311127.4	-	6	2136	c.2069C>T	c.(2068-2070)tCa>tTa	p.S690L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	690	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGTAAAATTGATGAAAATAA	0.483000													6	9					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157062551	157062551	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:157062551G>A	ENST00000454449.2	-	5	1260	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				ACCTCCCTGGGATCCAGGCCT	0.602000													24	32					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990465	51990465	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:51990465C>T	ENST00000322241.4	+	1	1136	c.797C>T	c.(796-798)gCg>gTg	p.A266V		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	266	Ala-rich.					integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGCCCGCAGCGCGGGCCGCG	0.746000													3	1					0	0	1	0	0
PITHD1	57095	broad.mit.edu	37	1	24106391	24106391	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:24106391A>G	ENST00000246151.4	+	3	391	c.280A>G	c.(280-282)Atg>Gtg	p.M94V		NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	94	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						CATCATTATAATGGGAGAGGA	0.433000													17	34					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455628	29455628	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr6:29455628A>G	ENST00000377127.3	-	1	110	c.52T>C	c.(52-54)Ttt>Ctt	p.F18L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	18						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GACTCAGCAAACACTGTCCAT	0.547000													7	18					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432828	73432828	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr3:73432828C>T	ENST00000263666.4	-	10	3003	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	PDZRN3_ENST00000462146.2_Silent_p.A620A|PDZRN3_ENST00000535920.1_Silent_p.A685A|PDZRN3_ENST00000466780.1_Silent_p.A620A|PDZRN3_ENST00000479530.1_Silent_p.A680A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	963							ubiquitin-protein ligase activity|zinc ion binding	p.A963A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGCTCACCGCGTCGTCGT	0.672000													28	59					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368192	27368192	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr6:27368192G>A	ENST00000244576.4	+	3	588	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E15*(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCTACAAATGAAGAAGACTA	0.423000													23	34					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151198	11151198	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:11151198G>T	ENST00000544779.1	-	5	521	c.516C>A	c.(514-516)ttC>ttA	p.F172L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.F172L|EXOSC10_ENST00000376936.4_Missense_Mutation_p.F172L			Q01780	EXOSX_HUMAN	exosome component 10	172					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	p.F172L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAAGCAGCCGGAAAGTTTCAG	0.343000													38	51					2.75727e-19	3.15635e-19	1	1	0
SPON1	10418	broad.mit.edu	37	11	14276187	14276187	+	RNA	SNP	T	T	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr11:14276187T>G	ENST00000310358.7	+	0	1539							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCAGAAGATCTGTGCACCAAG	0.552000													20	34					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863060	10863060	+	RNA	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr21:10863060C>T	ENST00000559480.1	+	0	356																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGAGAGACACAATGTGAAAA	0.483000													62	295					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473496	19473496	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr5:19473496A>G	ENST00000507958.1	-	15	3202	c.2212T>C	c.(2212-2214)Tat>Cat	p.Y738H	CDH18_ENST00000274170.4_Missense_Mutation_p.Y738H|CDH18_ENST00000382275.1_Missense_Mutation_p.Y738H|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	738					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCATAGGCATAAGTCTGAAGA	0.483000													10	27					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	591822	591822	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chrX:591822G>C	ENST00000381578.1	+	2	881	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	SHOX_ENST00000334060.3_Missense_Mutation_p.G64R|SHOX_ENST00000554971.1_Missense_Mutation_p.G64R|SHOX_ENST00000381575.1_Missense_Mutation_p.G64R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	64					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGGCGGCGGCCACTGCCC	0.582000													35	44					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094853	30094853	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:30094853G>C	ENST00000279387.7	+	6	610	c.442G>C	c.(442-444)Gac>Cac	p.D148H	PPP4C_ENST00000561610.1_Missense_Mutation_p.D148H	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	148					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGAGATCTTTGACTACCTCAG	0.602000													16	20					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335209	141335209	+	Silent	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr5:141335209G>A	ENST00000231484.3	-	1	3418	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	736					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGGACATGAACAAAGCCA	0.592000													9	28					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29040838	29040838	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr18:29040838G>A	ENST00000257189.4	+	7	810	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	243	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCAGACAAAGATGGAGAAGG	0.343000													5	16					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662000													63	116					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183609317	183609317	+	Splice_Site	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr4:183609317A>G	ENST00000511685.1	+	12	2158		c.e12-1		TENM3_ENST00000406950.2_Splice_Site|TENM3_ENST00000502950.1_Splice_Site					teneurin transmembrane protein 3																		CCTCCCACATAGAAATATGTT	0.512000													48	67					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65628283	65628283	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr17:65628283G>C	ENST00000580974.1	+	6	1087	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	PITPNC1_ENST00000581322.1_Missense_Mutation_p.V131L|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V131L|PITPNC1_ENST00000299954.9_Missense_Mutation_p.V131L	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	131					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V131L(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGCCAAAGACGTGGAGAGAGA	0.433000													7	18					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139726772	139726772	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr9:139726772G>T	ENST00000371675.3	+	7	1195	c.310G>T	c.(310-312)Ggc>Tgc	p.G104C	RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.G219C|RABL6_ENST00000432842.2_Missense_Mutation_p.G181C|RABL6_ENST00000371663.4_Missense_Mutation_p.G220C|RABL6_ENST00000311502.7_Missense_Mutation_p.G219C|RABL6_ENST00000357466.2_Missense_Mutation_p.G219C					RAB, member RAS oncogene family-like 6																		GAACAGCTTCGGCCTAAAGTA	0.488000													19	29					1.01871e-10	1.10785e-10	1	1	0
PPP2R3C	55012	broad.mit.edu	37	14	35565813	35565813	+	Missense_Mutation	SNP	C	C	G	rs147465664	byFrequency	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr14:35565813C>G	ENST00000261475.5	-	9	1142	c.789G>C	c.(787-789)gaG>gaC	p.E263D		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	263						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TTTCTTGACTCTCCTTGGACA	0.333000													15	35					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr4:1803568C>G	ENST00000340107.4	+	7	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	12					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5212049	5212049	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr17:5212049A>G	ENST00000262477.6	+	2	319	c.95A>G	c.(94-96)cAa>cGa	p.Q32R	RABEP1_ENST00000546142.2_Missense_Mutation_p.Q32R|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q32R|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q32R|RABEP1_ENST00000537505.1_Intron	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	32					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TTACGTGCACAACAGCAGCTT	0.343000													18	20					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36640691	36640691	+	Silent	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr19:36640691C>T	ENST00000587718.1	+	10	998	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CAPNS1_ENST00000246533.3_Intron|CAPNS1_ENST00000588780.1_Intron|CAPNS1_ENST00000588815.1_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron			P04632	CPNS1_HUMAN	calpain, small subunit 1	0					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCTGTCCTCACTCTCCACC	0.607000													12	36					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438821	120438821	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:120438821C>G	ENST00000369400.1	-	1	297	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	47					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTCAGCTTCTCAGGAATGGTG	0.507000													13	23					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888671	29888671	+	Silent	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:29888671G>A	ENST00000308713.5	-	11	2357	c.1830C>T	c.(1828-1830)ccC>ccT	p.P610P	SEZ6L2_ENST00000350527.3_Silent_p.P540P|SEZ6L2_ENST00000537485.1_Silent_p.P566P|SEZ6L2_ENST00000346932.5_Silent_p.P496P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	610	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTGAGGTCGGGCCCAGAGG	0.672000													10	15					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343000													37	8					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754200	110754200	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:110754200G>C	ENST00000369787.3	+	1	106	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	KCNC4_ENST00000438661.2_Missense_Mutation_p.E27Q|KCNC4_ENST00000413138.3_Missense_Mutation_p.E27Q	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	27	Inactivation gate.				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATGTCTGAAGGAGGAGATGGC	0.627000													12	24					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234891724	234891724	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr2:234891724C>T	ENST00000324695.4	+	20	2657	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	TRPM8_ENST00000433712.2_Missense_Mutation_p.L451F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	873						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTTCCTGTTCCTCTTTGCGGT	0.607000													68	132					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48936855	48936855	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr15:48936855T>C	ENST00000316623.5	-	2	567	c.112A>G	c.(112-114)Aga>Gga	p.R38G	FBN1_ENST00000560355.1_Missense_Mutation_p.R38G	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	38					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGACTGGCTCTGGTTTCCTTC	0.582000													62	101					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626715	122626715	+	Silent	SNP	G	G	A			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr8:122626715G>A	ENST00000303924.4	-	4	1830	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	431						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCATGACGATATTTCCTC	0.423000													32	72					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100928218	100928218	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:100928218C>T	ENST00000336454.3	+	9	974	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	CDC14A_ENST00000370125.2_Silent_p.F177F|CDC14A_ENST00000370124.3_Missense_Mutation_p.H207Y|CDC14A_ENST00000544534.1_Missense_Mutation_p.H207Y|CDC14A_ENST00000361544.6_Missense_Mutation_p.H207Y|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000542213.1_Missense_Mutation_p.H149Y	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	207	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TTATCCTCTTCACGCCCCTGA	0.403000													11	15					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058083	27058083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:27058083delC	ENST00000324856.7	+	3	2162	c.1791delC	c.(1789-1791)ttcfs	p.F597fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.F214fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.F597fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	597					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCAGCGCTTCCCTCCACCGC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	91	---	---	---	---					
MKNK1	8569	broad.mit.edu	37	1	47024369	47024369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr1:47024369delC	ENST00000371946.4	-	14	1439	c.1276delG	c.(1276-1278)gcafs	p.A426fs	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Frame_Shift_Del_p.A290fs|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Frame_Shift_Del_p.A385fs	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	426					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCAGCTAGTGCCTCTGGCTCC	0.622													14	39	---	---	---	---					
MUC7	4589	broad.mit.edu	37	4	71347116	71347116	+	Frame_Shift_Del	DEL	C	C	-	rs41454651	byFrequency	TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr4:71347116delC	ENST00000413702.1	+	4	943	c.655delC	c.(655-657)cctfs	p.P219fs	MUC7_ENST00000304887.5_Frame_Shift_Del_p.P219fs|MUC7_ENST00000456088.1_Frame_Shift_Del_p.P219fs	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	219	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTCCTGCAACTAC	0.587													50	122	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152702364	152702365	+	Frame_Shift_Ins	INS	-	-	A	rs143313866		TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr6:152702364_152702365insA	ENST00000367255.5	-	56	9386_9387	c.8785_8786insT	c.(8785-8787)gacfs	p.D2929fs	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.D2968fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.D2929fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.D2936fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.D2936fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2929					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTTCCAGTCGGCACGCAGG	0.574										HNSCC(10;0.0054)			53	51	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151878427	151878427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr7:151878427delG	ENST00000355193.2	-	36	6736	c.6518delC	c.(6517-6519)ccafs	p.P2173fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P2173fs					lysine (K)-specific methyltransferase 2C																		CTGACTATATGGGTCAACAGT	0.463													32	36	---	---	---	---					
MARK2	2011	broad.mit.edu	37	11	63670556	63670556	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr11:63670556delA	ENST00000402010.2	+	14	2019	c.1440delA	c.(1438-1440)acafs	p.T480fs	MARK2_ENST00000408948.3_Frame_Shift_Del_p.T446fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.T479fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T480fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.T446fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.T446fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T479fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T480fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.T447fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.T480fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T479fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T480fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.T446fs	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	480					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACCAGCACAAATCGAAGCA	0.582													58	125	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77090412	77090412	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr11:77090412delG	ENST00000356341.3	-	4	844	c.313delC	c.(313-315)cgcfs	p.R105fs	PAK1_ENST00000278568.4_Frame_Shift_Del_p.R105fs|PAK1_ENST00000528203.1_Frame_Shift_Del_p.R7fs|PAK1_ENST00000530617.1_Frame_Shift_Del_p.R105fs	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	105	Autoregulatory region.|GTPase-binding (By similarity).				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	p.R105S(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TGAAGCAAGCGGGCCCACTGC	0.478													19	34	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3819231	3819231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr16:3819231delG	ENST00000262367.5	-	15	3813	c.3004delC	c.(3004-3006)caafs	p.Q1002fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.Q964fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1002					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCTCTGCTTGGGTCTCCGTC	0.582			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						23	42	---	---	---	---					
NINL	22981	broad.mit.edu	37	20	25436326	25436326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr20:25436326delC	ENST00000278886.6	-	23	4013	c.3940delG	c.(3940-3942)gatfs	p.D1314fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.D965fs|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1314					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCAGCTTATCCACTTTCTCT	0.498													49	91	---	---	---	---					
GTPBP1	9567	broad.mit.edu	37	22	39112986	39112987	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr22:39112986_39112987insT	ENST00000216044.5	+	4	1048_1049	c.815_816insT	c.(814-819)cctgacfs	p.D273fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	273					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCCATCTGCCTGACTTCTGCA	0.530													12	34	---	---	---	---					
SELO	83642	broad.mit.edu	37	22	50649179	50649191	+	Frame_Shift_Del	DEL	TGCCCCTGGAGCT	TGCCCCTGGAGCT	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chr22:50649179_50649191delTGCCCCTGGAGCT	ENST00000380903.2	+	5	1248_1260	c.1190_1202delTGCCCCTGGAGCT	c.(1189-1203)ctgcccctggagctgfs	p.LPLEL397fs	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAGCCGGAACTGCCCCTGGAGCTGGGGGAGGCC	0.657											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	62	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44942739	44942739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A519-01A-11D-A26M-08	TCGA-E7-A519-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272ccb50-e0b9-446b-a620-b5473caa7478	68fcc5b6-6be4-4bee-ac08-3c4dc59eab92	g.chrX:44942739delC	ENST00000377967.4	+	23	3360	c.3319delC	c.(3319-3321)cctfs	p.P1107fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1062fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1028fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1114fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1107	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACTAAACTTCCTGCTTTTGT	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	6	---	---	---	---					
