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
DNAJB8	165721	broad.mit.edu	37	3	128182004	128182004	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:128182004G>A	uc003ekk.1	-	2	1746	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R29C	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	29	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGTGCCAACGAAGGGCCAGC	0.577000													38	182					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10223969	10223969	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:10223969A>G	uc001qxb.3	-	5	890	c.806T>C	c.(805-807)cTc>cCc	p.L269P	CLEC1A_uc001qxd.3_Missense_Mutation_p.L226P|CLEC1A_uc010sgx.2_Missense_Mutation_p.L167P	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	269					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						GGGGACATGGAGGCTCTCTGG	0.512000													19	120					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55914070	55914070	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:55914070G>A	uc002xye.3	+	9	963	c.870G>A	c.(868-870)aaG>aaA	p.K290K	MIR5095_uc021wfc.1_Intron|SPO11_uc002xyf.3_Silent_p.K252K	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	290					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCATCTATAAGTATGGATCTA	0.274000								Editing and processing nucleases					4	43					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80707349	80707349	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:80707349G>A	uc001szd.3	+	29	3523	c.3517G>A	c.(3517-3519)Gca>Aca	p.A1173T		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGTATAGCTGCATATGCATA	0.368000													4	79					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148041	67148041	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:67148041G>A	uc001dcr.3	+	14	1521	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.G202E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	435	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTGGTCCGGGGACCACCAGT	0.607000													53	271					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87165839	87165839	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:87165839C>T	uc003uiz.2	-	20	2909	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	ABCB1_uc011khc.2_Missense_Mutation_p.D742N	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	806	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.D805N(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)	TTTTTAGGGTCATCAAACCAA	0.453000													10	46					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795412	101795412	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:101795412G>A	uc003knn.3	-	4	1141	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.V323V|SLCO6A1_uc003knq.3_Silent_p.V261V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	323						integral to membrane|plasma membrane	transporter activity	p.A322T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCATGCAACGACAGCGGCAA	0.338000													12	53					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961655	240961655	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:240961655T>C	uc010fzc.2	-	1	279	c.178A>G	c.(178-180)Ata>Gta	p.I60V	NDUFA10_uc002vyn.3_Missense_Mutation_p.I60V|NDUFA10_uc002vyo.2_Missense_Mutation_p.I60V|NDUFA10_uc002vyp.3_Missense_Mutation_p.I60V	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	60					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TCTACAGTTATCACTCTGCTG	0.393000													13	62					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233271853	233271853	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:233271853G>A	uc002vss.4	+	1	207	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	52					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACAGACAGCCGCCAAGAACCT	0.677000													18	199					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	RNA	SNP	C	C	A	rs79307257	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593016C>A	uc010yug.1	-	26		c.1897G>T			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	76					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	435941	435941	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:435941T>A	uc003gaf.4	-	2	2637	c.2411A>T	c.(2410-2412)gAg>gTg	p.E804V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.E772V|ABCA11P_uc010ibe.3_Missense_Mutation_p.E760V	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		ATGAATTTTCTCATGTCTATT	0.353000													6	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476111	179476111	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:179476111T>C	uc021vsy.1	-	217	43366	c.43141A>G	c.(43141-43143)Aaa>Gaa	p.K14381E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K8076E|TTN_uc021vta.1_Missense_Mutation_p.K8009E|TTN_uc021vtb.1_Missense_Mutation_p.K7884E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15308							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGTCTTTGGCAACCACA	0.383000													4	68					0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74641424	74641424	+	Silent	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:74641424T>C	uc011cst.2	+	4	703	c.451T>C	c.(451-453)Ttg>Ctg	p.L151L	HMGCR_uc003kdp.3_Silent_p.L131L|HMGCR_uc003kdq.3_Silent_p.L131L|HMGCR_uc010izn.1_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	131					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTTCCTACTTTTGATTGACCT	0.318000													8	60					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745457	111745457	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:111745457T>C	uc004bdo.1	-	5	910	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	CTNNAL1_uc010mts.1_Missense_Mutation_p.I26V|CTNNAL1_uc004bdp.1_Missense_Mutation_p.I290V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	290					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAAATACTGATAGATGAAATG	0.279000													5	46					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31229359	31229359	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:31229359A>G	uc001zff.3	+	13	3245	c.2954A>G	c.(2953-2955)cAt>cGt	p.H985R	FAN1_uc001zfe.3_Missense_Mutation_p.H590R	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	985	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CGTCTTTCACATAAGCAGATG	0.423000								Direct reversal of damage					14	102					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184029	14184029	+	Silent	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:14184029T>C	uc010xag.2	+	2	718	c.420T>C	c.(418-420)gcT>gcC	p.A140A	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript|ANKRD20A5P_uc002ksv.2_Missense_Mutation_p.L19P					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						TCCATTATGCTGTGTATAGTG	0.438000													6	212					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573205	41573205	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:41573205G>T	uc003azl.4	+	30	5885	c.5490G>T	c.(5488-5490)agG>agT	p.R1830S		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1830					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCTTCGCAGGAGGATGGCCA	0.602000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				13	93					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925389	218925389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218925389G>T	uc002vgx.3	-	0	625	c.332C>A	c.(331-333)tCa>tAa	p.S111*	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		CAGCAAAGATGACCCACATGG	0.547000													17	67					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43311099	43311099	+	Splice_Site	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:43311099G>A	uc002iin.3	+	5	685	c.485_splice	c.e5+1	p.T162_splice	FMNL1_uc002iio.3_Splice_Site_p.T107_splice|FMNL1_uc002iip.1_Silent_p.T156T	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	162	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTCTGTCACGTAAGCCCCCT	0.622000													6	68					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:124403289C>T	uc001uft.4	+	63	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3649					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567000													5	36					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:100350361T>C	uc003uwj.3	+	13	2798	c.2633T>C	c.(2632-2634)cTc>cCc	p.L878P	ZAN_uc003uwk.3_Missense_Mutation_p.L878P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	878	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													6	229					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053281	73053281	+	Missense_Mutation	SNP	G	G	A	rs142079000		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:73053281G>A	uc001jro.3	+	11	2343	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	UNC5B_uc001jrp.3_Missense_Mutation_p.R620H	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	631	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTCAGTGCCCGTGACTGGATC	0.652000													20	183					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:5406823C>T	uc002kmt.1	-	15	2388	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_uc010wzh.1_Missense_Mutation_p.A599T|EPB41L3_uc002kmu.1_Missense_Mutation_p.A587T|EPB41L3_uc010dkq.1_Missense_Mutation_p.A478T|EPB41L3_uc002kms.1_Missense_Mutation_p.A40T|EPB41L3_uc010wze.1_Missense_Mutation_p.A40T|EPB41L3_uc010wzf.1_Missense_Mutation_p.A40T|EPB41L3_uc010wzg.1_Missense_Mutation_p.A40T|EPB41L3_uc010dkr.2_Missense_Mutation_p.A160T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	768	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.A768S(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532000													11	87					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500697	66500697	+	RNA	SNP	C	C	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:66500697C>G	uc004aed.1	+	2		c.790C>G								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TTCAGCACCCCTGGGCCAGGC	0.672000													5	12					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890715	2890715	+	Missense_Mutation	SNP	C	C	T	rs79649705	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:2890715C>T	uc002kln.3	+	3	749	c.590C>T	c.(589-591)aCg>aTg	p.T197M		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	197					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.T197A(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCACAAGGACGGTTCTTGAC	0.527000													13	123					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145162525	145162525	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:145162525T>C	uc002tvu.3	-	4	992	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ZEB2_uc010zbm.2_Missense_Mutation_p.D133G|ZEB2_uc002tvv.3_Missense_Mutation_p.D151G|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.D186G	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	157						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R156H(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCATGACCATCGCGTTCCTC	0.468000													10	42					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62903476	62903476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:62903476C>T	uc010ihh.3	+	20	3588	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	LPHN3_uc003hcq.4_Nonsense_Mutation_p.R1139*|LPHN3_uc003hct.3_Nonsense_Mutation_p.R523*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1117					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAATGCCTGCGAACACATTG	0.423000													7	84					0	0	1	0	0
MAFIP	727764	broad.mit.edu	37	GL000194.1	53784	53784	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chrGL000194.1:53784G>A	uc021xvt.1	-	2	1977	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	MAFIP_uc003jab.2_Non-coding_Transcript|MAFIP_uc011clu.2_3'UTR	NM_001190825	NP_001177754	Q8WZ33	MAFIP_HUMAN	Homo sapiens MAFF interacting protein (MAFIP), mRNA.	80					microtubule cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule|nucleolus											TTGAGGTTGCGCAGGGACTGC	0.587000													3	5					0	0	1	0	0
FAM96A	84191	broad.mit.edu	37	15	64365169	64365169	+	Silent	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:64365169T>C	uc002amt.1	-	4	684	c.444A>G	c.(442-444)ttA>ttG	p.L148L	FAM96A_uc002amu.1_3'UTR	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	Homo sapiens family with sequence similarity 96, member A (FAM96A), transcript variant 1, mRNA.	148					chromosome segregation			p.L148F(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAATTTCCCGTAAGTTGGGGT	0.388000													17	97					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153144022	153144022	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:153144022G>A	uc011dcy.2	+	11	1909	c.1882G>A	c.(1882-1884)Gtc>Atc	p.V628I	GRIA1_uc003lva.4_Missense_Mutation_p.V618I|GRIA1_uc003luy.4_Missense_Mutation_p.V618I|GRIA1_uc003luz.4_Missense_Mutation_p.V523I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.V538I|GRIA1_uc011dcx.2_Missense_Mutation_p.V549I|GRIA1_uc011dcz.2_Missense_Mutation_p.V628I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	618					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.V618I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTTGGTGGCGTCTGGTGGTT	0.552000													21	57					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940309	218940309	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218940309C>T	uc010fvl.2	+	8	1612	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RUFY4_uc002vgw.3_Missense_Mutation_p.S192L	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592000													7	40					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	Splice_Site	SNP	A	A	G	rs9729175	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:148933289A>G	uc010pbc.1	+	3		c.236_splice	c.e3-2		LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		TGCTGCCCGCAGGATATTGTG	0.562000													4	13					0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350627	10350627	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:10350627G>A	uc021vds.1	+	2	413	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	Homo sapiens chromosome 2 open reading frame 48 (C2orf48), mRNA.	128								p.A128V(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CACAGAGGGCGCTGGGCTCCA	0.582000													4	146					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804447	22804447	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:22804447T>A	uc002yld.2	+	11	1749	c.1500T>A	c.(1498-1500)taT>taA	p.Y500*	NCAM2_uc011acb.2_Nonsense_Mutation_p.Y358*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	500	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAGTCCCTATGGAGTGAAGA	0.448000													11	58					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89068388	89068388	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr8:89068388G>A	uc003yeb.4	-	7	1623	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	447	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTTTCCCGACGTCCTCCCACC	0.413000													27	66					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34058198	34058198	+	Silent	SNP	A	A	G			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:34058198A>G	uc002yqh.2	-	8	1095	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	SYNJ1_uc011ads.1_Silent_p.A326A|SYNJ1_uc002yqf.2_Silent_p.A326A|SYNJ1_uc002yqg.2_Silent_p.A326A|SYNJ1_uc002yqi.2_Silent_p.A365A	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	326	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTGGATATCAGCAGCATGTT	0.333000													14	49					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12046639	12046639	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:12046639C>T	uc001ila.3	-	3	1868	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	UPF2_uc001ilb.3_Missense_Mutation_p.R465Q|UPF2_uc001ilc.3_Missense_Mutation_p.R465Q|UPF2_uc009xiz.2_Missense_Mutation_p.R465Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	465					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding	p.A464S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATAAAAATTCCGAGCATCTTC	0.363000													8	77					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213458	21213458	+	Silent	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:21213458C>T	uc011ahw.2	+	0	167	c.60C>T	c.(58-60)gcC>gcT	p.A20A	PI4KA_uc002zsz.4_5'Flank|PI4KA_uc010gsq.2_5'Flank	NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	20					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			ACGAAGGCGCCCGGCCGGCCC	0.692000													7	37					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	RNA	SNP	A	A	G	rs111976783		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593000A>G	uc010yug.1	-	26		c.1913T>C			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	76					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000													3	11					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148701024	148701024	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:148701024G>A	uc003wff.2	-	9	2082	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	600	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGATGGTGGGGAAGCCCTCCA	0.542000													8	80					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053764	39053764	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:39053764G>A	uc002rrf.3	-	14	2806	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S	DHX57_uc002rrd.4_Missense_Mutation_p.P287S|DHX57_uc002rre.3_Missense_Mutation_p.P336S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	903	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTCCTGCAGGAGGTTTTACA	0.378000													13	37					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505651	159505651	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:159505651G>A	uc010piw.2	-	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCAATGCAGATGATAGTCA	0.418000													27	114					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004514	94004514	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:94004514G>A	uc001ybv.1	+	8	854	c.771G>A	c.(769-771)acG>acA	p.T257T	UNC79_uc001ybs.1_Silent_p.T257T|UNC79_uc001ybu.1_Silent_p.T195T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	434						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCATCAACACGCGGGAATGCG	0.567000													6	30					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74955991	74955991	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr16:74955991T>C	uc002fdh.1	-	9	842	c.740A>G	c.(739-741)aAt>aGt	p.N247S	WDR59_uc002fdi.3_Missense_Mutation_p.N247S|WDR59_uc021tli.1_Missense_Mutation_p.N226S	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	247										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCAATCCATTGCTGAAAGG	0.493000													4	98					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262467	45262467	+	Silent	SNP	C	C	T	rs143994644	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:45262467C>T	uc003jok.3	-	7	2254	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	743	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P743P(2)|p.P743L(1)|p.P743Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gagtctgcggcggctgggact	0.637000													9	66					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152776617	152776617	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr6:152776617C>A	uc021zhb.1	-	21	3059	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	SYNE1_uc003qot.4_Missense_Mutation_p.A953S|SYNE1_uc003qou.4_Missense_Mutation_p.A946S|SYNE1_uc010kjb.1_Missense_Mutation_p.A929S|SYNE1_uc003qow.3_Missense_Mutation_p.A241S|SYNE1_uc003qox.1_Missense_Mutation_p.A462S|SYNE1_uc003qoz.2_Missense_Mutation_p.A378S|SYNE1_uc003qoy.2_Missense_Mutation_p.A513S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	946					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTCCTGAGCAATCCGCAGT	0.512000										HNSCC(10;0.0054)			16	76					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	RNA	SNP	C	C	T	rs75189823	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:96593025C>T	uc010yug.1	-	26		c.1888G>A			ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													5	79					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444014	20444014	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:20444014C>T	uc010tkx.2	+	0	337	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGGTTGAGCGCAAGACTAT	0.453000													24	154					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053086	11053086	+	Silent	SNP	G	G	A			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:11053086G>A	uc002rax.3	+	0	1024	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	178						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGTCGTCGTGCCCGGCGC	0.682000													5	84					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8092104	8092104	+	RNA	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr8:8092104T>C	uc011kwt.2	+	3		c.472T>C			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GAGCTATTTGTTGGTATGAGA	0.592000													3	21					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35093455	35093455	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:35093455T>C	uc003zwd.3	-	4	1298	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	PIGO_uc003zwe.3_Missense_Mutation_p.Y301C|PIGO_uc003zwf.3_Missense_Mutation_p.Y301C|PIGO_uc003zwc.1_Missense_Mutation_p.Y301C|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	301					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTGGGGCTATACAGAAAGAG	0.547000													14	54					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:194118797C>T	uc003ftv.1	-	1	246	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_uc021xiz.1_Missense_Mutation_p.G72D	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	72					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632000													4	137					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52847357	52847358	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:52847357_52847358delAG	uc001ctt.3	-	13	2320_2321	c.2089_2090delCT	c.(2089-2091)ctafs	p.L697fs	ORC1_uc010oni.2_Frame_Shift_Del_p.L692fs|ORC1_uc001ctu.3_Frame_Shift_Del_p.L697fs	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	697	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAGGCCTTTAGATGCTTGAGC	0.515													10	87	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:39379288_39379290delCAG	uc003thb.2	+	5	702_704	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_uc022acb.1_In_Frame_Del_p.Q196del|POU6F2_uc010kxo.3_In_Frame_Del_p.Q188del	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													9	43	---	---	---	---					
LOC100131094	100131094	broad.mit.edu	37	19	4682879	4682880	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr19:4682879_4682880delAG	uc021ung.1	+	1	325_326	c.9_10delAG	c.(7-12)gcagagfs	p.A3fs	DPP9_uc002mba.3_Intron	NM_001242901	NP_001229830			Homo sapiens uncharacterized LOC100131094 (LOC100131094), mRNA.																		AGATGGGGGCAGAGAGAGAGAG	0.663													2	4	---	---	---	---					
ZNF28	7576	broad.mit.edu	37	19	53303676	53303677	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr19:53303676_53303677delTT	uc002qad.3	-	3	1578_1579	c.1421_1422delAA	c.(1420-1422)aaafs	p.K474fs	ZNF28_uc002qac.3_Frame_Shift_Del_p.K420fs|ZNF28_uc010eqe.3_Frame_Shift_Del_p.K420fs|ZNF28_uc021uza.1_Frame_Shift_Del_p.K421fs	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACCTGAAAACTTTGTCACATTC	0.386													15	163	---	---	---	---					
RRP7A	27341	broad.mit.edu	37	22	42910685	42910686	+	Splice_Site	INS	-	-	A	rs142905414	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:42910685_42910686insA	uc003bcp.3	-	3	1121	c.627_splice	c.e3+1	p.E209_splice	RRP7A_uc003bcq.3_Splice_Site_p.E186_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	186							RNA binding|nucleotide binding	p.?(2)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCGGGGCCTCTACCTCAGCGAT	0.658													8	56	---	---	---	---					
