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
CLEC1A	51267	broad.mit.edu	37	12	10241822	10241822	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:10241822C>T	ENST00000315330.4	-	2	178		c.e2-1		CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCCCTGTGCTCTGCAGGGAAC	0.517000													7	33					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41925110	41925110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:41925110G>C	ENST00000269980.2	+	5	923	c.555G>C	c.(553-555)ttG>ttC	p.L185F	BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.L163F|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.L219F|BCKDHA_ENST00000595085.1_Missense_Mutation_p.L219F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	185					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCAGTGACTTGGGCAAGGGGC	0.582000													9	49					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413408	50413408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413408C>T	ENST00000435965.1	-	19	1932	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E518K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E587K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E587K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	587					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	tccttgttctcatcctctAGC	0.587000													12	64					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857799	101857799	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:101857799C>G	ENST00000604957.1	+	1	3352	c.730C>G	c.(730-732)Cca>Gca	p.P244A	ARMCX5_ENST00000536530.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P244A|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P244A|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	244							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCCTTGCCTCCAGAAGGAAA	0.468000													11	64					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48744557	48744557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:48744557T>A	ENST00000557021.1	-	5	806	c.646A>T	c.(646-648)Atc>Ttc	p.I216F	TMEM189_ENST00000371656.2_Missense_Mutation_p.I141F|TMEM189_ENST00000371650.5_Missense_Mutation_p.I213F|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.I216F|TMEM189_ENST00000371652.4_Missense_Mutation_p.I216F	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ACGTGGTGGATGCGATGGTGT	0.607000													14	24					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30602817	30602817	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:30602817C>T	ENST00000300415.8	+	2	154	c.141C>T	c.(139-141)ccC>ccT	p.P47P	CCM2L_ENST00000262659.8_Silent_p.P47P					cerebral cavernous malformation 2-like									p.P47P(2)									TTTATCCCCCCGACTACCTCA	0.642000													28	135					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711432	45711432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:45711432C>G	ENST00000310806.4	-	4	1406	c.948G>C	c.(946-948)caG>caC	p.Q316H	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	316					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTAACTTTCTGTTGCGAAG	0.403000													8	36					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													17	79					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85410593	85410593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:85410593G>A	ENST00000258888.5	+	13	5542	c.5375G>A	c.(5374-5376)cGa>cAa	p.R1792Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCAAACTCCGAGGGTGAGTG	0.547000													6	30					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195485	87195485	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:87195485G>A	ENST00000265724.3	-	8	1020	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ABCB1_ENST00000543898.1_Silent_p.F137F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	201	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.F201Y(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TAAACCCAGTGAAAAATGTTG	0.403000													14	41					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30426392	30426392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:30426392G>C	ENST00000334352.4	+	19	2587	c.2356G>C	c.(2356-2358)Gaa>Caa	p.E786Q	USP16_ENST00000399975.3_Missense_Mutation_p.E785Q|USP16_ENST00000399976.2_Missense_Mutation_p.E786Q|USP16_ENST00000535828.1_Missense_Mutation_p.E415Q	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	786					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GACAGATTTTGAAATGGAATC	0.373000													8	36					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51763484	51763484	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:51763484C>G	ENST00000251076.5	-	29	7612	c.7325G>C	c.(7324-7326)aGa>aCa	p.R2442T	DMXL2_ENST00000543779.2_Missense_Mutation_p.R2443T|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1806T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2442						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAAGATGGTCTTTCTGCAGG	0.423000													21	70					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193855479	193855479	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:193855479G>A	ENST00000232424.3	+	4	536	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	100					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CAGCTGCGCTGAGCACAGACC	0.672000													7	39					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38560888	38560888	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:38560888G>A	ENST00000399017.2	+	39	7763	c.5016G>A	c.(5014-5016)ctG>ctA	p.L1672L	TTC3_ENST00000355666.1_Silent_p.L1672L|TTC3_ENST00000354749.2_Silent_p.L1672L|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1672					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTGGGGCTGATTAGCCGGT	0.423000													4	25					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28387409	28387409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:28387409G>T	ENST00000261609.7	-	76	11783	c.11675C>A	c.(11674-11676)cCg>cAg	p.P3892Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3892					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGGCAACGGTGTTCTTTT	0.483000													6	38					3.59834e-05	3.74487e-05	1	1	0
PLEKHF2	79666	broad.mit.edu	37	8	96166674	96166674	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:96166674C>T	ENST00000315367.3	+	2	643	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PLEKHF2_ENST00000519516.1_Silent_p.L134L	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	134						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTGATTTACTCTCCAAAAGTG	0.398000													19	58					0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042509	49042509	+	Silent	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:49042509A>G	ENST00000358295.5	+	2	367	c.192A>G	c.(190-192)agA>agG	p.R64R	FAM19A5_ENST00000402357.1_Silent_p.R71R|FAM19A5_ENST00000473898.1_Intron	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	71						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GTGCGTGTAGAAAGGGGCAGA	0.711000													3	34					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40630808	40630808	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:40630808C>A	ENST00000559313.1	-	5	588	c.573G>T	c.(571-573)gaG>gaT	p.E191D		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	191										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGGTGACCCCTCTATGCCTT	0.587000											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	64					7.21436e-19	8.17391e-19	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783320	115783320	+	Silent	SNP	C	C	T	rs78791241	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:115783320C>T	ENST00000343348.6	-	19	2869	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	SEMA6A_ENST00000503865.1_Silent_p.S73S|SEMA6A_ENST00000282394.6_Silent_p.S171S|SEMA6A_ENST00000513137.1_Silent_p.S121S|SEMA6A_ENST00000257414.8_Silent_p.S711S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.S694S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	694					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGCCCCGGCGCGAGTGGGTGA	0.627000													20	108					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53084944	53084944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:53084944G>C	ENST00000376352.2	+	8	859	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	STXBP4_ENST00000434978.2_Missense_Mutation_p.E218Q|STXBP4_ENST00000299341.4_Missense_Mutation_p.E143Q|STXBP4_ENST00000398391.2_Missense_Mutation_p.E143Q|STXBP4_ENST00000405898.1_Missense_Mutation_p.E218Q	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	218						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTTTAAGGCAGAGAAACTGGA	0.378000													34	145					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724253	34724253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:34724253G>C	ENST00000360581.1	+	2	365	c.237G>C	c.(235-237)aaG>aaC	p.K79N	NPSR1_ENST00000359791.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381539.3_Missense_Mutation_p.K79N|NPSR1_ENST00000531252.1_Missense_Mutation_p.K79N|NPSR1_ENST00000465305.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381553.3_Missense_Mutation_p.K79N|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.K79N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	79						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAAAGAAGAAGTCAAGAA	0.438000													10	37					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32731436	32731436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:32731436C>T	ENST00000380250.3	+	16	2174	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCAAGTACGAAAAGCTGT	0.343000													6	27					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71960661	71960661	+	Missense_Mutation	SNP	G	G	A	rs148862507	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:71960661G>A	ENST00000266674.5	+	11	1350	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	LGR5_ENST00000536515.1_Missense_Mutation_p.V275I|LGR5_ENST00000540815.2_Missense_Mutation_p.V323I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	347						integral to plasma membrane	protein-hormone receptor activity	p.V347L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTCAAACCGTCTGCAATCA	0.403000													8	32					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365712	7365712	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7365712G>A	ENST00000311403.4	-	4	2928	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	ZBTB4_ENST00000380599.4_Silent_p.S863S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGCTGCCCCCGCTTGCCACTA	0.622000													7	47					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874590	88874590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:88874590G>T	ENST00000303236.3	-	13	2712	c.2411C>A	c.(2410-2412)tCt>tAt	p.S804Y	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S653Y|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	804	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TACTATTGAAGAGGAGGTTCT	0.418000													24	93					1.10923e-09	1.22655e-09	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573209	140573209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140573209G>C	ENST00000239446.4	+	1	1268	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		362	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTCTCCTGAGACGCCGCT	0.418000													12	41					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575432	45575432	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:45575432C>T	ENST00000303809.2	-	3	1069	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	285					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCTCTGGGGCGGCACCTGCC	0.687000													18	81					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55517036	55517036	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517036G>A	ENST00000219070.4	+	2	878	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MMP2_ENST00000570308.1_Silent_p.Q47Q|MMP2_ENST00000543485.1_Silent_p.Q47Q|MMP2_ENST00000437642.2_Silent_p.Q73Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	123	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ACAAGAACCAGATCACATACA	0.597000													9	49					0	0	1	0	0
DOHH	83475	broad.mit.edu	37	19	3494083	3494083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:3494083G>C	ENST00000427575.1	-	3	745	c.294C>G	c.(292-294)atC>atG	p.I98M	DOHH_ENST00000250937.3_Missense_Mutation_p.I98M	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	98					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCCCCGATGGCCCCCA	0.632000													4	20					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188923976	188923976	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:188923976G>A	ENST00000326866.4	+	4	423	c.15G>A	c.(13-15)ctG>ctA	p.L5L	ZFP42_ENST00000509524.1_Silent_p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	5					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L5L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCAGCAACTGAAGAAACGGG	0.542000													15	44					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510130	120510130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:120510130C>A	ENST00000256646.2	-	8	1598	c.1379G>T	c.(1378-1380)tGc>tTc	p.C460F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	460	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTGAATGGCACTCATTGAT	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	77					1.5842e-08	1.74338e-08	1	1	0
ATP4A	495	broad.mit.edu	37	19	36051372	36051372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:36051372G>T	ENST00000262623.3	-	6	708	c.680C>A	c.(679-681)tCc>tAc	p.S227Y		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	227					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.S227F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTCAGCGAGGAGTTGTCCAC	0.647000													15	51					2.61681e-11	2.92169e-11	1	1	0
SLC26A2	1836	broad.mit.edu	37	5	149359973	149359973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:149359973C>G	ENST00000286298.4	+	3	1085	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	273						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGTATCTTCTTGGGCTCAA	0.453000													18	91					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117825457	117825457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:117825457C>T	ENST00000350763.4	-	13	4183	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	TNC_ENST00000341037.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1258N|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1258	Fibronectin type-III 8.				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						TTTCCCATATCTGGAACCTCC	0.488000													5	26					0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30100023	30100023	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:30100023C>T	ENST00000553607.1	-	4	1452	c.759G>A	c.(757-759)caG>caA	p.Q253Q	TBX6_ENST00000395224.2_Silent_p.Q253Q|TBX6_ENST00000279386.2_Silent_p.Q253Q			O95947	TBX6_HUMAN	T-box 6	253					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCTGTGGGTTCTGGTAGGCTG	0.617000													30	167					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56224689	56224689	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:56224689C>G	ENST00000381226.3	-	10	860		c.e10-1		CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Splice_Site|MIER3_ENST00000381199.3_Splice_Site|MIER3_ENST00000381213.3_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTCATTCCTTCTAAGaaaaat	0.338000													4	13					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36070626	36070626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:36070626G>A	ENST00000225893.4	-	5	1452	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	HNF1B_ENST00000427275.2_Missense_Mutation_p.S338L|HNF1B_ENST00000561193.1_Missense_Mutation_p.S338L|HNF1B_ENST00000560016.1_Missense_Mutation_p.S364L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	364					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACTGATTGTTGAGGAGGAAGT	0.547000													9	34					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121437302	121437302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:121437302C>G	ENST00000257555.6	+	9	1866	c.1640C>G	c.(1639-1641)aCt>aGt	p.T547S	HNF1A_ENST00000541395.1_Missense_Mutation_p.T578S|HNF1A_ENST00000544413.1_Missense_Mutation_p.T554S			P20823	HNF1A_HUMAN	HNF1 homeobox A	547					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCTCAGACACTGAGGCCTCC	0.687000									Hepatic Adenoma, Familial Clustering of				6	44					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190122681	190122681	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:190122681C>T	ENST00000264734.2	+	3	806	c.558C>T	c.(556-558)atC>atT	p.I186I	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	186					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AAGTCCGCATCTGCTTTGTTG	0.507000													7	45					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036108	9036108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:9036108C>T	ENST00000383836.3	-	19	2754	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752H	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	776	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCCGAGGCGCGGTGGTACAG	0.587000			T	RAF1	pilocytic astrocytoma								11	88					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99438684	99438684	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:99438684G>C	ENST00000397899.2	-	7	2383	c.2052C>G	c.(2050-2052)gtC>gtG	p.V684V		NM_207362.2	NP_997245.2			KIAA1211-like																		ACCGGAGCTTGACGGGGAAGG	0.667000													3	12					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96235857	96235857	+	Silent	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:96235857A>G	ENST00000437043.3	+	10	2247	c.1536A>G	c.(1534-1536)ggA>ggG	p.G512G	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Silent_p.G467G	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	512					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CATCTGGTGGAGTTTGTCATT	0.408000													6	51					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29776152	29776152	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:29776152G>C	ENST00000375398.2	-	26	4874	c.4425C>G	c.(4423-4425)ctC>ctG	p.L1475L	SVIL_ENST00000535393.1_Silent_p.L389L|SVIL_ENST00000538146.1_Silent_p.L267L|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Silent_p.L1475L|SVIL_ENST00000375400.3_Silent_p.L1049L			O95425	SVIL_HUMAN	supervillin	1475	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGTGGGGAGAGAGCAGGAGGA	0.517000													3	23					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59041876	59041876	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:59041876C>G	ENST00000371225.2	-	1	1290	c.953G>C	c.(952-954)aGa>aCa	p.R318T		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	318					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGGTTCCTTTCTCAACTCCCC	0.602000													3	24					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119978475	119978475	+	Missense_Mutation	SNP	G	G	C	rs150338593		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:119978475G>C	ENST00000327554.2	+	14	2073	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	536										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCTGGCTGCAGAGCCGGATCA	0.512000													11	58					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133479	119133479	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:119133479C>A	ENST00000264245.4	+	12	3235	c.2703C>A	c.(2701-2703)ggC>ggA	p.G901G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	901					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGCATGGCCTGGAGATGG	0.567000													13	74					2.27111e-07	2.45237e-07	1	1	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874295	74874295	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:74874295G>C	ENST00000331628.3	-	4	907	c.660C>G	c.(658-660)ctC>ctG	p.L220L	SYNDIG1L_ENST00000554823.1_Silent_p.L220L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	220					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGCCACGTAGAGACCGGCCC	0.657000													14	93					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1428915	1428915	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:1428915G>A	ENST00000336761.6	+	8	826	c.621G>A	c.(619-621)ggG>ggA	p.G207G	DAZAP1_ENST00000233078.4_Silent_p.G207G	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	207					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGTGGGGGAGCCGGGTTG	0.637000													12	49					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793355	36793355	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:36793355G>C	ENST00000399881.3	+	27	3404	c.3367G>C	c.(3367-3369)Ggt>Cgt	p.G1123R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1123						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATACCTTTAGGTGACAATGC	0.383000													17	39					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	439980	439980	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:439980G>A	ENST00000256509.2	+	25	3807	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P	CHL1_ENST00000397491.2_Silent_p.P1039P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1039					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TATTTGAGCCGGGAGCTGAAC	0.388000													4	38					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35544827	35544827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:35544827G>A	ENST00000536438.1	-	11	1525	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FKBP5_ENST00000357266.4_Missense_Mutation_p.R404W|FKBP5_ENST00000540787.1_Missense_Mutation_p.R225W|FKBP5_ENST00000539068.1_Missense_Mutation_p.R404W	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	404					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTGCGGTCCCGCTCGTTGTGC	0.522000													13	80					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69354494	69354494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:69354494C>T	ENST00000342206.6	+	2	809	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	IGBP1_ENST00000356413.4_Missense_Mutation_p.R104W			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	104					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TCATTTGCAGCGGGCTCGAGA	0.473000													11	41					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7111543	7111543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7111543C>G	ENST00000399510.2	-	4	1027	c.175G>C	c.(175-177)Gat>Cat	p.D59H	DLG4_ENST00000485100.1_Missense_Mutation_p.D16H|DLG4_ENST00000399506.2_Missense_Mutation_p.D16H|DLG4_ENST00000302955.6_Missense_Mutation_p.D16H	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	16					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTGTCTTCATCTTGGTAGCGG	0.687000													20	129					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860805	21860805	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21860805G>C	ENST00000399982.2	-	33	6696	c.6632C>G	c.(6631-6633)tCt>tGt	p.S2211C	CHD8_ENST00000557364.1_Missense_Mutation_p.S2211C|CHD8_ENST00000430710.3_Missense_Mutation_p.S1932C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2211					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGACTGGAGAGTCACCATA	0.547000													11	86					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55878349	55878349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:55878349G>T	ENST00000247178.5	-	1	227	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	64					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CGAAGTAGACGAAATCGCCGC	0.657000													4	15					2.56e-06	2.71336e-06	1	1	0
KRT16P6	353194	broad.mit.edu	37	17	16722266	16722266	+	RNA	SNP	C	C	T	rs2656363	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:16722266C>T	ENST00000417510.1	-	0	1464																											TGGGCATCCTCGCCCTCCAGC	0.592000													4	62					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153590634	153590634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:153590634C>T	ENST00000422373.1	-	18	2880	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	FLNA_ENST00000369850.3_Missense_Mutation_p.E878K|FLNA_ENST00000344736.4_Missense_Mutation_p.E878K|FLNA_ENST00000360319.4_Missense_Mutation_p.E878K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	878					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCCCTCGGCCTTCACC	0.652000													13	89					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071513	53071513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:53071513C>T	ENST00000276480.7	-	15	2434	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	584						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R584H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCCCTGCAGCGGGTGGAAAG	0.592000													28	108					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90588899	90588899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:90588899C>G	ENST00000375883.3	-	2	433	c.127G>C	c.(127-129)Ggc>Cgc	p.G43R	CDK20_ENST00000325303.8_Missense_Mutation_p.G43R|CDK20_ENST00000605159.1_Missense_Mutation_p.G43R|CDK20_ENST00000375871.4_Missense_Mutation_p.G43R|CDK20_ENST00000336654.5_Missense_Mutation_p.G56R	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	43	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TTAGGGAAGCCGTCCTCCAAC	0.587000													4	64					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415659	43415659	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43415659G>C	ENST00000244533.3	+	16	4218	c.3859G>C	c.(3859-3861)Gag>Cag	p.E1287Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.E1315Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1315	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCAGCTGGAGCTGGCCCA	0.612000													4	31					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559617	48559617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:48559617G>T	ENST00000258955.2	+	4	725	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	214					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGCTGCAGGAACTGCTGCA	0.687000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	105					8.60227e-14	9.69864e-14	1	1	0
PFDN6	10471	broad.mit.edu	37	6	33258544	33258544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:33258544G>T	ENST00000395131.1	+	5	718	c.312G>T	c.(310-312)caG>caT	p.Q104H	PFDN6_ENST00000374606.5_Missense_Mutation_p.Q104H|PFDN6_ENST00000374607.1_Missense_Mutation_p.Q104H|PFDN6_ENST00000374610.2_Missense_Mutation_p.Q104H|PFDN6_ENST00000463584.1_Intron			O15212	PFD6_HUMAN	prefoldin subunit 6	104					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						CAGAGCAACAGAGGGAGACCC	0.592000													5	17					5.9392e-07	6.38325e-07	1	1	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			7	44					1.06961e-07	1.16593e-07	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731000													8	42					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54070067	54070067	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:54070067G>T	ENST00000338662.5	-	0	1115				ATP5G2_ENST00000394349.3_De_novo_Start_OutOfFrame|ATP5G2_ENST00000549164.1_De_novo_Start_OutOfFrame	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCCGACTGCAGAAATGAGGCC	0.627000											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					1.23904e-05	1.30127e-05	1	1	0
CCIN	881	broad.mit.edu	37	9	36170445	36170445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:36170445C>T	ENST00000335119.2	+	1	1057	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	316					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CATGCCCTATCGGGCAGCAGC	0.547000													18	68					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124619673	124619673	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:124619673G>A	ENST00000403470.1	-	4	572	c.517C>T	c.(517-519)Cct>Tct	p.P173S	VSIG2_ENST00000326621.5_Missense_Mutation_p.P173S			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	173	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACTGGCTTAGGAGCCCCCTCG	0.537000													13	50					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34968082	34968082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:34968082C>T	ENST00000361534.2	-	12	1070	c.931G>A	c.(931-933)Gat>Aat	p.D311N	CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000381554.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000290244.5_Missense_Mutation_p.D272N|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	287					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CAAACTTCATCATTCAGGAAA	0.368000													9	26					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99591900	99591900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:99591900C>G	ENST00000523601.1	-	10	1423	c.1024G>C	c.(1024-1026)Gaa>Caa	p.E342Q	STK3_ENST00000419617.2_Missense_Mutation_p.E314Q	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	314					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCGAATTTTCTTCTTCCTCT	0.318000													6	39					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46234756	46234756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:46234756G>C	ENST00000306156.3	+	9	1546	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	PRKCE_ENST00000394874.1_Missense_Mutation_p.E130Q	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	407					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GGGCCTGGATGAGTTCAACTT	0.572000													10	36					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176814778	176814778	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176814778C>T	ENST00000324417.5	+	6	639	c.548C>T	c.(547-549)tCt>tTt	p.S183F	SLC34A1_ENST00000512593.1_Missense_Mutation_p.S183F	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	183					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGTGAGCTCTGCCATCCCC	0.602000													6	32					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43460094	43460094	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr18:43460094G>A	ENST00000282041.5	-	32	5647	c.5613C>T	c.(5611-5613)tcC>tcT	p.S1871S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1871					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGCCCTCGGTGGACGCTGCCC	0.607000											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879470	144879470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:144879470G>C	ENST00000369359.4	-	30	4426	c.4388C>G	c.(4387-4389)tCt>tGt	p.S1463C	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1463C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1283C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1327					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCTCTCAGAGGAACTAGC	0.522000			T	PDGFRB	MPD								19	200					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			13	22					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33390877	33390877	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:33390877G>C	ENST00000305768.4	-	16	1849	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	587						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						CCTGCTTTTTGAGGACCTCAA	0.433000													4	63					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827209	79827209	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:79827209G>A	ENST00000269321.7	-	4	483	c.348C>T	c.(346-348)ttC>ttT	p.F116F	ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000541078.2_Silent_p.F116F|ARHGDIA_ENST00000400721.4_Silent_p.F116F|ARHGDIA_ENST00000584461.1_Silent_p.F116F|ARHGDIA_ENST00000580685.1_Silent_p.F116F	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	116					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTTACCCGGAAAGAGATTT	0.602000													28	107					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192153555	192153555	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:192153555G>A	ENST00000367460.3	+	5	760	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	193	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACGTTTTCTGAAATCTGACA	0.413000													8	43					0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500790	27500790	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:27500790C>T	ENST00000296097.3	+	4	700	c.282C>T	c.(280-282)taC>taT	p.Y94Y	DNAJC5G_ENST00000402462.1_Silent_p.Y94Y|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Silent_p.Y78Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	94	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAATTTACGACCAGCATG	0.418000													7	57					0	0	1	0	0
DIMT1	27292	broad.mit.edu	37	5	61699562	61699562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:61699562C>T	ENST00000199320.4	-	1	198	c.38G>A	c.(37-39)cGc>cAc	p.R13H	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Missense_Mutation_p.R13H	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	13						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										CTGCCGCCCGCGGCGGCGGCC	0.706000													5	32					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	15					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4828507	4828507	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:4828507C>T	ENST00000348624.4	+	13	1726	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	AP5Z1_ENST00000401897.1_Silent_p.A544A	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	544					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AGCCCATGGCCGGCTGTGCCC	0.716000													5	31					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532606	84532606	+	RNA	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:84532606C>G	ENST00000527857.1	+	0	2628					NR_026851.1																						CAGACAATGTCTCTTCCTGAG	0.448000													5	25					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112802	145112802	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:145112802G>A	ENST00000426825.1	-	9	1194	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	371							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTGCTGACTCGGGCCCAACCA	0.672000													11	17					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797642	130797642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797642C>G	ENST00000509018.1	-	19	2825	c.2620G>C	c.(2620-2622)Gat>Cat	p.D874H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D874H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D874H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D589H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D874H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D879H|FNIP1_ENST00000514667.1_Missense_Mutation_p.D924H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	874	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGAAACAAATCAAAGTCCCTC	0.408000													6	45					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639938	101639938	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639938G>C	ENST00000342239.3	-	16	4341	c.4250C>G	c.(4249-4251)tCc>tGc	p.S1417C	DNMBP_ENST00000543621.1_Missense_Mutation_p.S639C|DNMBP_ENST00000324109.4_Missense_Mutation_p.S1393C|DNMBP_ENST00000540316.1_Missense_Mutation_p.S329C			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1393	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CGAGGTAAAGGATACAGCCAT	0.567000													10	98					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860589	52860589	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:52860589C>T	ENST00000343457.3	-	4	2605	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	867						integral to membrane		p.D867N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCAGCCTTATCAGGATCTGAG	0.368000													5	41					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121349	62121349	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:62121349C>T	ENST00000433197.2	-	22	3028	c.2933G>A	c.(2932-2934)tGa>tAa	p.*978*		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	0					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGCCCTCGCTCAGAGGGCGTC	0.647000													12	58					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129059976	129059976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:129059976G>A	ENST00000394422.3	+	13	1859	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E559K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E557K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E443K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	611					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTCTTGAAAGAGAAGAGGGA	0.522000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	27					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169611869	169611869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:169611869C>T	ENST00000335742.7	+	7	1662	c.305C>T	c.(304-306)tCt>tTt	p.S102F	PALLD_ENST00000505667.1_Missense_Mutation_p.S484F|PALLD_ENST00000512127.1_Missense_Mutation_p.S102F|PALLD_ENST00000333488.4_Missense_Mutation_p.S361F|PALLD_ENST00000261509.6_Missense_Mutation_p.S484F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	484					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATCCAAGACTCTCCAGATTTC	0.537000									Pancreatic Cancer, Familial Clustering of				15	74					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136698928	136698928	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:136698928C>G	ENST00000354570.3	-	7	1126	c.716G>C	c.(715-717)aGa>aCa	p.R239T	MAP7_ENST00000432797.2_Missense_Mutation_p.R93T|MAP7_ENST00000438100.2_Missense_Mutation_p.R224T|MAP7_ENST00000454590.1_Missense_Mutation_p.R261T|MAP7_ENST00000544465.1_Missense_Mutation_p.R224T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	239					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTTTTACTTCTGGCCAGGAA	0.522000													6	60					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5332963	5332963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:5332963G>A	ENST00000282908.5	+	4	699	c.277G>A	c.(277-279)Gag>Aag	p.E93K	STK32B_ENST00000512636.1_Missense_Mutation_p.E46K|STK32B_ENST00000510398.1_Missense_Mutation_p.E46K	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	93	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTTCCAGGATGAGGAGGACAT	0.532000													6	44					0	0	1	0	0
SKA2	348235	broad.mit.edu	37	17	57232366	57232366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:57232366G>A	ENST00000580541.1	-	1	179	c.79C>T	c.(79-81)Cct>Tct	p.P27S	SKA2_ENST00000330137.7_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000437036.2_Missense_Mutation_p.P27S			Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						GGTGCAGGAGGAGGGAACTCG	0.607000													14	71					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011783	176011783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176011783C>T	ENST00000510636.1	+	19	2775	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L	CDHR2_ENST00000261944.5_Missense_Mutation_p.S834L|CDHR2_ENST00000506348.1_Missense_Mutation_p.S834L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	834	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTTGCCTCGGATGTGGAC	0.612000													16	134					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077246	95077246	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:95077246T>C	ENST00000545558.1	-	7	2153	c.1661A>G	c.(1660-1662)aAc>aGc	p.N554S	NOL8_ENST00000442668.2_Missense_Mutation_p.N554S|NOL8_ENST00000535387.1_Missense_Mutation_p.N554S|NOL8_ENST00000542053.1_Missense_Mutation_p.N486S|NOL8_ENST00000358855.4_Missense_Mutation_p.N486S			Q76FK4	NOL8_HUMAN	nucleolar protein 8	554					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCCACAGGTGTTCTCCTCTCC	0.478000													9	46					0	0	1	0	0
MIR516A2	574499	broad.mit.edu	37	19	54264407	54264407	+	RNA	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:54264407G>C	ENST00000384888.1	+	0	21					NR_030221.1																						TGACCTTCTCGAGGAAAGAAG	0.413000													6	53					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797624	130797624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797624C>A	ENST00000509018.1	-	19	2843	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E595*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E885*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.E930*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	880	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGTCGGTTCAATATTACGA	0.408000													5	35					0.000602214	0.000621118	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056587	13056587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr18:13056587C>T	ENST00000506447.1	+	19	4078	c.3998C>T	c.(3997-3999)tCt>tTt	p.S1333F	CEP192_ENST00000430049.2_Missense_Mutation_p.S858F|CEP192_ENST00000325971.8_Missense_Mutation_p.S737F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	928										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACCCATATTCTAATACCTTA	0.463000													20	101					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51953685	51953685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:51953685C>T	ENST00000311234.4	-	11	1771	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	INTS6_ENST00000398119.2_Missense_Mutation_p.M420I|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.M117I|INTS6_ENST00000497989.1_Missense_Mutation_p.M255I|INTS6_ENST00000425000.1_Start_Codon_SNP_p.M1I	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	433					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTGCTCCCATCATCCTAACAG	0.333000													4	36					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64434488	64434488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:64434488C>T	ENST00000358025.3	+	11	1282	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S351L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S351L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	351					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGTCCTGTCAATAAAACGG	0.398000													12	44					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70331333	70331333	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:70331333C>A	ENST00000374202.2	-	1	148	c.57G>T	c.(55-57)ctG>ctT	p.L19L		NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	19					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCCCCACTCCCAGCAGGGGCA	0.557000									Severe Combined Immunodeficiency, X-linked				4	45					1	1	1	1	0
GABRE	2564	broad.mit.edu	37	X	151123917	151123917	+	Missense_Mutation	SNP	C	C	A	rs61740527		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:151123917C>A	ENST00000370325.1	-	8	1113	c.1060G>T	c.(1060-1062)Gct>Tct	p.A354S	GABRE_ENST00000370328.3_Missense_Mutation_p.A354S|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	354					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAACAGAGCGCAGAAGCAG	0.498000													8	43					1	1	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140735118	140735118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140735118G>T	ENST00000571252.1	+	1	351	c.351G>T	c.(349-351)ttG>ttT	p.L117F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATTTTGCGGGTAGAGG	0.453000													6	39					0.0215528	0.0219342	1	1	0
LONP2	83752	broad.mit.edu	37	16	48311250	48311250	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:48311250C>T	ENST00000285737.4	+	8	1336	c.1241_splice	c.e8-1	p.R415_splice	LONP2_ENST00000535754.1_Splice_Site_p.R371_splice	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	415					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCTCTAGGCGCACCTATGT	0.473000													12	49					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528521	157528521	+	Silent	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:157528521G>T	ENST00000346085.5	+	20	6247	c.6246G>T	c.(6244-6246)gtG>gtT	p.V2082V	ARID1B_ENST00000275248.4_Silent_p.V2064V|ARID1B_ENST00000367148.1_Silent_p.V2122V|ARID1B_ENST00000350026.5_Silent_p.V2069V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2069					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGACTTGTGCTGGAGACCC	0.517000													55	167					5.22555e-25	5.94989e-25	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75898380	75898380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:75898380C>T	ENST00000377636.3	-	11	2537	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E731K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	731	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGATTTCATTTTCATAC	0.403000													8	24					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141770873	141770873	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:141770873G>T	ENST00000475668.2	+	44	5195	c.5141G>T	c.(5140-5142)gGc>gTc	p.G1714V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1714	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)	GTCCGTGGGGGCTACATCCTG	0.488000													8	31					0.0477658	0.048397	1	1	0
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632000													3	34					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	rs138261831	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:64054480G>A	ENST00000539851.1	+	3	868	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612000													8	34					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433523	138433523	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:138433523G>A	ENST00000477593.1	-	8	1162	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	PIK3CB_ENST00000289153.2_Silent_p.L363L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	363	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTTTACACAGGAGCTCAGTAC	0.373000													9	60					0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152085679	152085679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:152085679C>T	ENST00000535861.1	+	4	277	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	ZNF185_ENST00000539731.1_Missense_Mutation_p.P77S|ZNF185_ENST00000318504.7_Missense_Mutation_p.P77S|ZNF185_ENST00000449285.2_Missense_Mutation_p.P77S|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Missense_Mutation_p.P77S	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	77						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCAGGCCTCCGAGCACAAG	0.572000													12	76					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60610238	60610238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:60610238G>A	ENST00000227520.5	+	1	695	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	214					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAAAGAAGCGAAAAGGTTCT	0.612000													6	17					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35802584	35802584	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:35802584C>T	ENST00000216122.4	+	5	616	c.462C>T	c.(460-462)atC>atT	p.I154I	MCM5_ENST00000382011.5_Silent_p.I111I|CTA-286B10.7_ENST00000417343.1_RNA	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	154					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCTGGCATCATCATCGCGG	0.592000													7	40					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722218	64722218	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:64722218C>G	ENST00000338957.4	+	5	1707	c.1640C>G	c.(1639-1641)tCa>tGa	p.S547*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.S536*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	536							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTACTATTCAATGTTAGGT	0.478000													10	56					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271923	28271923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:28271923T>C	ENST00000373894.3	+	2	433	c.242T>C	c.(241-243)aTt>aCt	p.I81T	SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.I81T|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.I81T|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	81					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGAAGGAGATTGAGCCAGAG	0.572000													9	33					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													6	59					7.48243e-07	8.00446e-07	1	1	0
TACC3	10460	broad.mit.edu	37	4	1725454	1725454	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:1725454G>C	ENST00000313288.4	+	3	268		c.e3-1			NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3							centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTCCGCAACAGGTGACTTTTC	0.537000													9	54					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917822	186917822	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:186917822C>T	ENST00000312295.4	+	2	786	c.756C>T	c.(754-756)atC>atT	p.I252I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	252					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTGCTGATCATCTACCTGC	0.597000													15	64					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62979403	62979403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:62979403G>C	ENST00000251157.5	-	32	4136	c.4103C>G	c.(4102-4104)tCt>tGt	p.S1368C	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1337C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1368					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTCAAAGCAAGACACACAGAG	0.363000													14	44					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12162924	12162924	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:12162924C>T	ENST00000566228.1	+	10	1323	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	SNX29_ENST00000323433.4_Silent_p.L33L|SNX29_ENST00000306030.3_Silent_p.L33L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	33					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGCCCCCCTCGGAAGCCTGG	0.498000													11	66					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76549008	76549008	+	Silent	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:76549008C>G	ENST00000314067.6	+	7	451	c.417C>G	c.(415-417)ctC>ctG	p.L139L	IFT43_ENST00000238628.6_Silent_p.L144L	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	139					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACAATGACCTCATGAAGTACT	0.532000													17	81					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8413267	8413267	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:8413267C>T	ENST00000360416.3	-	25	3091	c.2952_splice	c.e25-1	p.D985_splice	MYH10_ENST00000379980.4_Splice_Site_p.D970_splice|MYH10_ENST00000396239.1_Splice_Site_p.D975_splice|MYH10_ENST00000269243.4_Splice_Site_p.D954_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	954					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTCCAGGTCCTTGTGAAGA	0.458000													7	54					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21823581	21823581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:21823581C>G	ENST00000377072.3	+	2	356	c.8C>G	c.(7-9)tCt>tGt	p.S3C	MLLT10_ENST00000377091.2_Missense_Mutation_p.S3C|MLLT10_ENST00000446906.2_Missense_Mutation_p.S3C|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377100.3_Missense_Mutation_p.S3C|MLLT10_ENST00000377059.3_Missense_Mutation_p.S3C|MLLT10_ENST00000307729.7_Missense_Mutation_p.S3C	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	3					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TAGATGGTCTCTAGCGACCGG	0.612000			T	"""MLL, PICALM, CDK6"""	AL								13	84					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26156186	26156186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:26156186G>A	ENST00000466284.1	+	5	2111	c.529G>A	c.(529-531)Gtt>Att	p.V177I	MTFR1L_ENST00000374303.2_Missense_Mutation_p.C213Y|MTFR1L_ENST00000374300.3_Missense_Mutation_p.C213Y|MTFR1L_ENST00000524618.1_Missense_Mutation_p.C116Y|MTFR1L_ENST00000374301.3_Missense_Mutation_p.C213Y|MTFR1L_ENST00000474295.1_Missense_Mutation_p.V177I|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000526894.1_Missense_Mutation_p.V154I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.C201Y					mitochondrial fission regulator 1-like																		AGCCCTGAATGTTGCAAACCA	0.517000													9	86					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39124119	39124119	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:39124119A>T	ENST00000331366.5	-	11	860	c.764T>A	c.(763-765)cTt>cAt	p.L255H	CPNE8_ENST00000360449.3_Missense_Mutation_p.L243H	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	255										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCCTCTAGAAAGTTCCCTATA	0.289000													6	36					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408111	107408111	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:107408111C>A	ENST00000394872.2	-	39	4200	c.3969G>T	c.(3967-3969)ctG>ctT	p.L1323L	COL4A6_ENST00000545689.1_Silent_p.L1298L|COL4A6_ENST00000372216.4_Silent_p.L1323L|COL4A6_ENST00000334504.7_Silent_p.L1322L|COL4A6_ENST00000538570.1_Silent_p.L1298L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1323	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCGTACCTTTCAGTCCTAGCT	0.597000									Alport syndrome with Diffuse Leiomyomatosis				6	25					0.00116845	0.00119974	1	1	0
MUC16	94025	broad.mit.edu	37	19	9070920	9070920	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:9070920G>C	ENST00000397910.4	-	3	16729	c.16526C>G	c.(16525-16527)tCt>tGt	p.S5509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5511	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCACATAAGAAAAGGCAGT	0.502000													5	25					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22848021	22848021	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:22848021C>A	ENST00000404138.1	+	16	3592	c.3081C>A	c.(3079-3081)acC>acA	p.T1027T	ZBTB40_ENST00000374651.4_Silent_p.T915T|ZBTB40_ENST00000375647.4_Silent_p.T1027T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1027					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACAATCGAACCCACCACCCTG	0.502000													15	47					2.31682e-05	2.42213e-05	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101639891	101639891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639891G>A	ENST00000342239.3	-	16	4388	c.4297C>T	c.(4297-4299)Ccg>Tcg	p.P1433S	DNMBP_ENST00000543621.1_Missense_Mutation_p.P655S|DNMBP_ENST00000324109.4_Missense_Mutation_p.P1409S|DNMBP_ENST00000540316.1_Missense_Mutation_p.P345S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTTTGGCGGAGGAGATGCA	0.542000													12	125					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53563911	53563911	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:53563911C>T	ENST00000267085.4	-	10	962		c.e10-1		CSAD_ENST00000379846.1_Splice_Site|CSAD_ENST00000444623.1_Splice_Site|CSAD_ENST00000453446.2_Splice_Site|CSAD_ENST00000379843.3_Splice_Site	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase						carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CATTTTCCCTCTGAAAAAGAA	0.527000													5	22					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55517971	55517971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517971G>A	ENST00000219070.4	+	3	933	c.424G>A	c.(424-426)Gat>Aat	p.D142N	MMP2_ENST00000570308.1_Missense_Mutation_p.D66N|MMP2_ENST00000543485.1_Missense_Mutation_p.D66N|MMP2_ENST00000437642.2_Missense_Mutation_p.D92N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	142	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GACAGTGGATGATGCCTTTGC	0.498000													11	77					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6273225	6273225	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:6273225G>C	ENST00000379785.1	+	16	1933		c.e16-1		PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Splice_Site			Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3						fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTGCTTGAAAGACGAACTGTC	0.413000													6	42					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62567851	62567851	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:62567851G>A	ENST00000531709.2	-	10	1127	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	NXF1_ENST00000294172.2_Silent_p.I338I|NXF1_ENST00000532297.1_Silent_p.I338I|NXF1_ENST00000439713.2_Silent_p.I338I|NXF1_ENST00000531131.1_5'UTR	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	338	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAACTGACCTGATGTAGGTGG	0.582000													5	32					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44169343	44169343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:44169343G>C	ENST00000372396.3	+	20	3031	c.2897G>C	c.(2896-2898)aGa>aCa	p.R966T	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	966	Tudor 2.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTCCAAGTGAGATGGACAGAC	0.542000													13	66					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152259	26152259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:26152259G>A	ENST00000264712.3	-	7	2782	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R735C	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	735	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGCGCACGAGGGTCTTGT	0.498000													9	43					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99799597	99799597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:99799597G>A	ENST00000426455.1	+	23	2734	c.2327G>A	c.(2326-2328)aGa>aAa	p.R776K	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R718K|STAG3_ENST00000317296.5_Missense_Mutation_p.R776K|GATS_ENST00000436886.2_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	776					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGAGGGACAGAATGGTGGCC	0.522000													22	60					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055729	226055729	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:226055729C>T	ENST00000366835.3	-	7	643	c.371_splice	c.e7-1	p.D125_splice		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	125						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATCTGGTCATCACTGGCCAAG	0.522000													11	40					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47785214	47785214	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:47785214G>C	ENST00000415270.2	-	1	99	c.93C>G	c.(91-93)gtC>gtG	p.V31V	SLC35B1_ENST00000240333.6_5'UTR	NM_005827.1	NP_005818.1	P78383	S35B1_HUMAN	solute carrier family 35, member B1	0						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CAGAGGAGCCGACTGGAGACC	0.677000											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673794	30673794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:30673794G>A	ENST00000376406.3	-	10	3813	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q792*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1056	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TTCTGGCTCTGAGAGTTAAGG	0.537000								Other conserved DNA damage response genes					13	77					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47476622	47476622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:47476622G>C	ENST00000265565.5	-	3	540	c.128C>G	c.(127-129)cCa>cGa	p.P43R	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	43					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TTTCAGCAGTGGGTAGCTGGG	0.498000													5	26					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:202149973C>T	ENST00000358485.4	+	8	1610	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488000										HNSCC(4;0.00038)			20	34					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16963895	16963895	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:16963895C>A	ENST00000379803.1	+	7	879	c.865C>A	c.(865-867)Cgt>Agt	p.R289S	SIN3B_ENST00000596802.1_Missense_Mutation_p.R289S|SIN3B_ENST00000248054.5_Missense_Mutation_p.R289S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	289	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512000													19	43					1.56452e-12	1.75532e-12	1	1	0
H6PD	9563	broad.mit.edu	37	1	9322255	9322255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:9322255C>G	ENST00000377403.2	+	4	1185	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	H6PD_ENST00000602477.1_Missense_Mutation_p.Q306E	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	295	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACAAGCTTCAGGTCTTCCA	0.642000													5	34					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85691140	85691140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:85691140G>C	ENST00000253458.7	+	8	1746	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q|GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GCAGGTGCTGGAGCAGCACCT	0.687000													4	17					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:152665261C>A	ENST00000367255.5	-	74	12781	c.12180G>T	c.(12178-12180)gaG>gaT	p.E4060D	SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060			E -> D (in dbSNP:rs4645434).		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	p.E4060D(3)		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)		GAGGACTTGGCTCTAAATCCG	0.498000										HNSCC(10;0.0054)			4	60					0.00024832	0.000257268	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													6	59					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057231	95057231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:95057231G>A	ENST00000329597.7	+	5	1246	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SERPINA5_ENST00000553780.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000554866.1_Missense_Mutation_p.E346K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	346					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGGTGTCTGAGGTGGGTTC	0.483000													5	55					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													6	33					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102569390	102569390	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:102569390C>T	ENST00000327680.2	+	8	1171	c.708C>T	c.(706-708)atC>atT	p.I236I	PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000358383.5_Silent_p.I317I|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Silent_p.I394I|PARPBP_ENST00000392911.2_Silent_p.I236I	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	317					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						AAAATATTATCAATTCTCAAG	0.353000													5	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7577090C>T	ENST00000420246.2	-	8	980	c.848G>A	c.(847-849)cGc>cAc	p.R283H	TP53_ENST00000445888.2_Missense_Mutation_p.R283H|TP53_ENST00000269305.4_Missense_Mutation_p.R283H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R283H|TP53_ENST00000455263.2_Missense_Mutation_p.R283H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	44					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15996792	15996792	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:15996792G>A	ENST00000221700.5	-	9	1152	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CYP4F2_ENST00000011989.7_Silent_p.S181S|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R353C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	353					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGGCAGCGCTCCTGGTAT	0.582000													17	60					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62339987	62339987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:62339987C>T	ENST00000328969.5	+	2	182	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZGPAT_ENST00000448100.1_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	19					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCTGCAGCAGGTGGAGCT	0.662000													8	58					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811433	5811433	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:5811433G>A	ENST00000381095.3	-	6	2503	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R646W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R626W	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	626					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGAGATCGCCGGGTGCCATAG	0.498000													27	100					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2793874	2793874	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:2793874G>C	ENST00000381163.3	+	10	1437	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.E385D|GYG2_ENST00000398806.3_Missense_Mutation_p.E354D|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	385					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(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)				CTGAAACTGAGACTCCTGCCG	0.433000													5	17					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920369	134920369	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:134920369C>A	ENST00000398015.3	+	12	2554	c.2184C>A	c.(2182-2184)atC>atA	p.I728I	EPHB1_ENST00000493838.1_Silent_p.I289I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	728	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGGGGCATCGCTGCTGGCA	0.522000													28	138					2.47511e-08	2.71083e-08	1	1	0
CUL9	23113	broad.mit.edu	37	6	43153816	43153816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43153816G>A	ENST00000252050.4	+	4	958	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CUL9_ENST00000372647.2_Missense_Mutation_p.E292K|CUL9_ENST00000354495.3_Missense_Mutation_p.E292K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	292					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCACAAGAGAGAAAAGCCG	0.592000													13	64					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702421	40702421	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:40702421T>A	ENST00000298910.7	+	29	4170	c.4112T>A	c.(4111-4113)aTa>aAa	p.I1371K		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1371	Roc.		I -> V (in PARK8; could be a polymorphism; dbSNP:rs17466213).		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGTTGGCATAGATGTGAAA	0.373000													10	26					0	0	1	0	0
PCGF6	84108	broad.mit.edu	37	10	105107010	105107010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:105107010C>G	ENST00000369847.3	-	5	725	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	PCGF6_ENST00000337211.4_Intron|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	220					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTAGGTACTTCTAGACCTCTT	0.299000													7	17					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34757697	34757697	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:34757697A>G	ENST00000265109.3	+	3	448	c.161A>G	c.(160-162)aAg>aGg	p.K54R	RAI14_ENST00000397449.1_Missense_Mutation_p.K47R|RAI14_ENST00000512629.1_Missense_Mutation_p.K54R|RAI14_ENST00000506376.1_Missense_Mutation_p.K46R|RAI14_ENST00000503673.1_Missense_Mutation_p.K54R|RAI14_ENST00000515799.1_Missense_Mutation_p.K57R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Missense_Mutation_p.K54R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	54						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGAGGGCAAGACCGCGTAA	0.552000													8	45					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110334609	110334609	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:110334609C>T	ENST00000239690.4	-	2	576	c.202G>A	c.(202-204)Gat>Aat	p.D68N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D39N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	68										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TACCATGAATCACAGTGCAGG	0.338000													7	15					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7690804	7690804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:7690804G>A	ENST00000358368.4	-	6	821	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	XAB2_ENST00000534844.1_Missense_Mutation_p.L259F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	262					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TAGTCGGCGAGAGAACACCAG	0.642000								Direct reversal of damage;Nucleotide excision repair (NER)					6	47					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065601	35065601	+	Missense_Mutation	SNP	C	C	T	rs139147779		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:35065601C>T	ENST00000382002.5	-	10	1885	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	487					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTATCCTGGTCAGTCTCAGAA	0.493000													17	68					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792998	21792998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21792998G>C	ENST00000206660.6	+	14	1984	c.1984G>C	c.(1984-1986)Gaa>Caa	p.E662Q	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E662Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E624Q			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	662					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTATGACTTTGAAACCCACTG	0.507000													20	83					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25752587	25752587	+	RNA	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:25752587G>A	ENST00000586223.1	+	0	1422					NR_033892.1																						AAGACCATGTGTCATCTGGTG	0.602000													18	63					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68163661	68163661	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:68163661C>G	ENST00000262215.3	-	19	3112	c.2723G>C	c.(2722-2724)aGa>aCa	p.R908T	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R362T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	908					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATACAGAAGTCTTCTTTGTTT	0.348000													6	39					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7699957	7699957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7699957G>C	ENST00000572933.1	+	50	9310	c.7850G>C	c.(7849-7851)cGa>cCa	p.R2617P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2617P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2617	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCAACCTTCGAGACATCTCC	0.562000													7	60					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561481	147561481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:147561481G>A	ENST00000281321.3	+	2	999	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	251	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.V251M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATGAGCGACGTGGACGCCGA	0.692000													5	28					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532604	84532604	+	RNA	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:84532604G>A	ENST00000527857.1	+	0	2626					NR_026851.1																						AGCAGACAATGTCTCTTCCTG	0.448000													5	24					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389832	22389832	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:22389832G>T	ENST00000334304.5	-	19	3731	c.3462C>A	c.(3460-3462)caC>caA	p.H1154Q	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1154					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGGCGCCACGTGCATTTTAA	0.458000													13	50					2.27111e-07	2.45237e-07	1	1	0
ABTB1	80325	broad.mit.edu	37	3	127396349	127396349	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:127396349C>G	ENST00000468137.1	+	8	994	c.378C>G	c.(376-378)ttC>ttG	p.F126L	ABTB1_ENST00000453791.2_Missense_Mutation_p.F126L|ABTB1_ENST00000393363.3_Missense_Mutation_p.F126L|ABTB1_ENST00000232744.8_Missense_Mutation_p.F268L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	268	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGACGGCTTCAACAGCTGCC	0.607000													20	89					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925189	48925189	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:48925189C>G	ENST00000263269.3	+	10	2327	c.2239C>G	c.(2239-2241)Cag>Gag	p.Q747E		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	747						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGCGCTCACTCAGCTCAAGGC	0.627000													17	66					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533128	145533128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:145533128G>A	ENST00000369304.3	+	11	1398	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ITGA10_ENST00000539363.1_Missense_Mutation_p.R265H|ITGA10_ENST00000538811.1_Missense_Mutation_p.R277H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	408					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R408H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGCCACCGCCTTTTCCCC	0.577000													7	37					0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67202771	67202771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:67202771G>C	ENST00000264009.8	+	12	2085	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	HSF4_ENST00000584272.1_Missense_Mutation_p.E344Q|HSF4_ENST00000521374.1_Missense_Mutation_p.E374Q|HSF4_ENST00000421453.1_Missense_Mutation_p.E344Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	374	Hydrophobic repeat HR-C.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGAGCCCAGAGAGTCTGCT	0.597000													9	56					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74036233	74036233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:74036233C>T	ENST00000238651.5	+	1	471	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	97					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGTCACGCTGCGCGCGTCCCT	0.751000													14	31					0	0	1	0	0
EMC8	10328	broad.mit.edu	37	16	85813429	85813429	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:85813429G>A	ENST00000253457.3	-	5	762	c.518C>T	c.(517-519)tCg>tTg	p.S173L	EMC8_ENST00000435200.2_3'UTR	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		GTCCAGGAGCGAGGCTGAGAT	0.512000													5	31					0	0	1	0	0
ADO	84890	broad.mit.edu	37	10	64564963	64564963	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:64564963C>T	ENST00000373783.1	+	1	448	c.144C>T	c.(142-144)ccC>ccT	p.P48P	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	48							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGGCTTCCCCGAGAACCTGA	0.726000													8	18					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603741	10603741	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:10603741G>C	ENST00000334534.5	+	8	1121	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GTTTCTCTTGGAAGTGATCGA	0.473000													8	63					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16168327	16168327	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:16168327G>A	ENST00000405303.2	-	13	1486	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	TAPT1_ENST00000399920.3_Missense_Mutation_p.S357L|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	468						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GGGAGGATTCGACAGCTTCTC	0.463000													7	43					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92265368	92265368	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:92265368G>C	ENST00000435962.2	-	6	925	c.602C>G	c.(601-603)tCa>tGa	p.S201*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.S201*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.S201*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.S201*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	201						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTTTTCCTTGAAGAAGAACT	0.323000													7	18					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:37430689G>A	ENST00000374660.1	+	7	795	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ANKRD30A_ENST00000602533.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCCTTGGCGGAAAGAACAC	0.483000													3	13					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817652	158817652	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:158817652G>A	ENST00000368141.4	+	6	1383	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	374	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCTTCAACTGAGAACAGTTG	0.438000													9	59					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52901123	52901123	+	Missense_Mutation	SNP	G	G	A	rs143272455		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:52901123G>A	ENST00000371544.3	-	27	4436	c.4174C>T	c.(4174-4176)Cgc>Tgc	p.R1392C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACAAGGTTGCGGACCAGCTGG	0.433000													5	24					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120759	38120759	+	Silent	SNP	A	A	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:38120759A>T	ENST00000395867.3	-	6	2074	c.1524T>A	c.(1522-1524)atT>atA	p.I508I	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I508I|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTTGATGTACAATGAGGTTTG	0.413000													10	63					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769637	118769637	+	Silent	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:118769637G>T	ENST00000334801.3	-	8	4951	c.3987C>A	c.(3985-3987)atC>atA	p.I1329I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1329	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGAGGGGATGATCCTCGACA	0.622000													7	58					0.00307968	0.00314812	1	1	0
ZNF304	57343	broad.mit.edu	37	19	57867885	57867885	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:57867885C>G	ENST00000391705.3	+	4	932	c.648C>G	c.(646-648)gaC>gaG	p.D216E	ZNF304_ENST00000598744.1_Missense_Mutation_p.D174E|ZNF304_ENST00000282286.5_Missense_Mutation_p.D216E|ZNF304_ENST00000443917.2_Missense_Mutation_p.D263E	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACCAAGGAGACTATGATGGAC	0.502000													6	57					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3954881	3954881	+	RNA	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:3954881C>G	ENST00000281228.8	-	0	117				FAM86EP_ENST00000313946.8_RNA																							TGATGAGTCTCTTAACTTTGC	0.473000													5	70					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210482	228210482	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:228210482C>T	ENST00000284523.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	WNT3A_ENST00000366753.2_Silent_p.I62I	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	62					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACGTGGAGATCATGCCCAGCG	0.657000													12	68					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178588	96178588	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:96178588G>T	ENST00000402399.1	-	2	395	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.S89Y|TCL1A_ENST00000555202.1_Missense_Mutation_p.S89Y|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.S89Y	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	89					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAGAAACTGGAGTCTGAGGA	0.567000			T	TRA@	T-CLL								15	121					1.3612e-06	1.44943e-06	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468000										HNSCC(3;0.000094)			9	36					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119004898	119004898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:119004898T>C	ENST00000350777.2	+	10	1307	c.1244T>C	c.(1243-1245)cTg>cCg	p.L415P	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	415	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGATCGGGCCTGGGAACGTCG	0.567000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	50					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:47530616C>T	ENST00000426342.1	-	7	1213	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418000													13	91					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485040	35485040	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:35485040G>C	ENST00000357182.4	-	4	569	c.342C>G	c.(340-342)ctC>ctG	p.L114L	ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Silent_p.L114L|ZMYM6_ENST00000487874.1_Silent_p.L114L|ZMYM6_ENST00000317538.5_Silent_p.L114L|ZMYM6_ENST00000373340.2_Silent_p.L114L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	114					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGCAGAAGAGCTGAGTAG	0.428000													15	69					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46762977	46762977	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:46762977G>A	ENST00000394809.4	-	7	1846	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	MYLK3_ENST00000536476.1_Silent_p.D236D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	577	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCGAAGGCGTCATAGAGCT	0.577000													17	85					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757339	116757339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:116757339G>C	ENST00000331677.3	+	7	2152	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	DSE_ENST00000452085.3_Missense_Mutation_p.D570H|DSE_ENST00000537543.1_Missense_Mutation_p.D589H|DSE_ENST00000359564.2_Missense_Mutation_p.D570H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	570					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTCCTTGTAGACCAAATACA	0.502000													9	20					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139461	142139461	+	RNA	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:142139461C>T	ENST00000390374.3	-	0	208																											CAGGGCCTGTCGGTACCAATA	0.517000													5	88					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413396	50413396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413396C>G	ENST00000435965.1	-	19	1944	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E522Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E591Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	591					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ctccttacctcttccttgttc	0.592000													13	61					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94761952	94761952	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:94761952G>C	ENST00000397809.5	-	10	1623	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	CCDC41_ENST00000397807.2_Silent_p.L325L|CCDC41_ENST00000339839.5_Silent_p.L358L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	350										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CAGCTGCTTTGAGAATTTCAT	0.328000													4	18					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166096	21166096	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21166096C>A	ENST00000380225.1	-	1	563	c.516G>T	c.(514-516)atG>atT	p.M172I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	172					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAGGATCTCATGATTTCTG	0.383000													33	150					4.31634e-10	4.79593e-10	1	1	0
MED30	90390	broad.mit.edu	37	8	118540969	118540969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:118540969C>T	ENST00000297347.3	+	2	421	c.257C>T	c.(256-258)tCa>tTa	p.S86L	MED30_ENST00000522839.1_Missense_Mutation_p.S86L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	86					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CGCCAACTTTCAGTTCTCTTC	0.413000													20	46					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617000													11	52					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755320	6755320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:6755320G>A	ENST00000245908.6	-	5	772	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SH2D3A_ENST00000437152.3_Missense_Mutation_p.S46F|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	168					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCATGGTGGAGGCTTCTAG	0.592000													11	108					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55790509	55790509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:55790509C>T	ENST00000321149.3	-	2	386	c.19G>A	c.(19-21)Gat>Aat	p.D7N	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D7N|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D7N	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	7	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGCTGTAATCGCTAACCTGA	0.572000													3	32					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6638800	6638801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:6638800_6638801insT	ENST00000333172.6	+	6	1875_1876	c.1682_1683insT	c.(1681-1683)gttfs	p.V561fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.V307fs|TAS1R1_ENST00000328191.4_Frame_Shift_Ins_p.L450fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	561					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTTTTTGGCTTTGCGTGAGC	0.594													11	62	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													4	2	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													2	4	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													3	4	---	---	---	---					
RP11-1094M14.11	0	broad.mit.edu	37	17	33900515	33900515	+	RNA	DEL	A	A	-			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:33900515delA	ENST00000592381.1	+	0	382																											accctgtcttaaaaaaaaaaa	0.413													2	4	---	---	---	---