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
ZP4	57829	broad.mit.edu	37	1	238048465	238048465	+	Splice_Site	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:238048465C>T	uc001hym.3	-	9	1598	c.1311_splice	c.e9+1	p.P437_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	437	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACATCCTACCGGTCCCCTGA	0.522000													22	42					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241828002	241828002	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:241828002C>T	uc002wae.4	-	3	1117	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	C2orf54_uc002wac.3_Missense_Mutation_p.A152T|C2orf54_uc002wad.3_Missense_Mutation_p.A171T	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	320										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGGTACACGGCGCCCTGCAGT	0.697000													3	27					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721964	64721964	+	Silent	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:64721964C>A	uc010nko.3	+	4	1453	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	451							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						CTAGTTCTGTCCCCTCGCTTG	0.607000													12	116					0.38729	0.38729	1	1	0
PARP1	142	broad.mit.edu	37	1	226553702	226553702	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:226553702T>C	uc001hqd.4	-	17	2629	c.2458A>G	c.(2458-2460)Aac>Gac	p.N820D		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	820	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCATGAGTGTTCTTAACATAC	0.468000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	36					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:36874112C>T	uc003cgj.3	-	20	7078	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478000													19	36					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199453	4199453	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:4199453G>A	uc003ghp.1	-	4	1138	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	370					biomineral tissue development	extracellular space|integral to membrane		p.R370Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582000													6	83					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47384261	47384261	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:47384261G>A	uc003crd.3	+	8	1405	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	KLHL18_uc011bav.2_Missense_Mutation_p.V315I	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	427										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGGGTTACAGTCTTTGAGGG	0.522000													24	50					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:15791259C>T	uc002nbl.3	+	4	574	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_uc010xoo.2_Missense_Mutation_p.T152M|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T152M(4)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGGATGCTGACGCCCGCCTTC	0.542000													4	36					0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24380951	24380951	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:24380951G>T	uc011mjx.2	+	0	74	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						AGACCTCCTAGAAGGAGATAC	0.443000													35	75					1.90571e-15	1.98978e-15	1	1	0
OR5H2	79310	broad.mit.edu	37	3	98001915	98001915	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:98001915A>G	uc003dsj.1	+	0	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAACTTCACATCCCCATGTA	0.413000													108	196					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226071	152226071	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:152226071T>C	uc022cho.1	+	0	659	c.659T>C	c.(658-660)cTc>cCc	p.L220P	PNMA3_uc004fhc.2_Missense_Mutation_p.L220P|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	220					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gtcagtgggctccgggccagc	0.592000													8	219					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016491	4016491	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:4016491G>A	uc002cvx.3	-	10	3886	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1116	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTGACGCCGCCATGTACGT	0.622000													8	118					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281660	103281660	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:103281660G>A	uc002tca.3	+	2	997	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	285						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAATCGGTGGGGTGCTGATTG	0.443000													61	69					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387260	44387260	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:44387260G>C	uc003oxl.3	+	8	1477	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	389	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCATGAGAGTGACTTCT	0.438000													17	62					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895408	40895408	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:40895408G>A	uc002onp.3	-	0	687	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	134	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGATCAGCGTGGATGATAG	0.627000													4	30					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563346	21563346	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:21563346G>A	uc009zzs.3	-	3	938	c.573C>T	c.(571-573)taC>taT	p.Y191Y	LATS2_uc001unr.4_Silent_p.Y191Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGGCCCTCGTAGGGGGTAC	0.687000													11	103					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447676	187447676	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:187447676G>A	uc003frp.3	-	4	974	c.517C>T	c.(517-519)Cct>Tct	p.P173S	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.P173S|BCL6_uc010hza.2_Missense_Mutation_p.P71S|BCL6_uc003frq.2_Missense_Mutation_p.P173S	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	173					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCACACCCAGGGGCGCTCCTC	0.602000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								6	139					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:125299120C>T	uc004euk.2	-	0	961	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637000													5	91					0	0	1	0	0
SDHC	6391	broad.mit.edu	37	1	161326623	161326623	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:161326623G>A	uc001gag.3	+	4	428	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SDHC_uc001gah.3_Missense_Mutation_p.R99Q|SDHC_uc001gai.3_Intron|SDHC_uc001gaj.3_Missense_Mutation_p.R80Q|SDHC_uc001gak.3_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATGGGATCCGACACTTGGTA	0.473000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				4	92					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:26830386G>A	uc003acg.2	+	1	1202	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547000													6	199					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49126932	49126932	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:49126932G>A	uc004dnh.2	+	0	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PPP1R3F_uc004dni.3_Intron|PPP1R3F_uc011mnd.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	200	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTACGTCCCGCGCAGCCCGC	0.706000													21	21					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931263	116931263	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:116931263C>T	uc011lxl.2	+	2	1428	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.T326T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	476	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.R475H(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCCCGCACCAGCACCCACA	0.567000													134	191					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99865139	99865139	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:99865139G>A	uc001ygc.3	-	12	1832	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	554					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGTTTTCACCGTTTACAAGCC	0.468000													4	145					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26639240	26639240	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:26639240C>G	uc001rhg.3	-	40	6025	c.5608G>C	c.(5608-5610)Gct>Cct	p.A1870P	ITPR2_uc009zjg.1_Missense_Mutation_p.A21P	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1870					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGAAGAAGCTTCTGTTAAT	0.363000													12	45					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175613522	175613522	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:175613522A>G	uc002ujd.2	-	8	1181	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.I343T	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	368					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAAAAACATGATATTTGGGAT	0.348000											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	30					0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55907119	55907119	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:55907119C>T	uc001xby.3	-	0	145	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	49					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCACCTGAGCGGCGCACTGG	0.622000													6	116					0	0	1	0	0
PLAC1	10761	broad.mit.edu	37	X	133700590	133700590	+	Silent	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:133700590G>C	uc004exo.1	-	2	409	c.123C>G	c.(121-123)ccC>ccG	p.P41P	PLAC1_uc004exp.1_Silent_p.P41P|PLAC1_uc022cei.1_Silent_p.P41P	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	Homo sapiens placenta-specific 1 (PLAC1), mRNA.	41					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATGAAGGGGTGCACTG	0.517000													129	172					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45774700	45774700	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:45774700C>T	uc002rus.3	-	12	1803	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	SRBD1_uc010yoc.2_Missense_Mutation_p.R95Q	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	576					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds	p.R576fs*6(1)|p.R576*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCGCCTCTCGGAAGCCTTG	0.333000													21	27					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561502	9561502	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:9561502C>T	uc002wnl.2	-	4	825	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	PAK7_uc002wnk.2_Missense_Mutation_p.V94M|PAK7_uc002wnj.2_Missense_Mutation_p.V94M|PAK7_uc010gby.1_Missense_Mutation_p.V94M	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	94	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCGAGTCACCGAGATGTTG	0.517000													82	132					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								26	36					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705779	65705779	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr7:65705779C>T	uc003tuw.3	+	1	719	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGATCCGCCTGGATGA	0.512000													29	42					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:65260496G>A	uc001xht.3	-	12	1936	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	SPTB_uc001xhr.3_Missense_Mutation_p.R629W|SPTB_uc001xhs.3_Missense_Mutation_p.R629W|SPTB_uc001xhu.3_Missense_Mutation_p.R629W	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	629				RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552000													4	74					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48636583	48636583	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48636583C>T	uc003cub.1	-	12	1466	c.1421G>A	c.(1420-1422)gGc>gAc	p.G474D		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	474					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCAGAACATGCCGCTACGGAT	0.637000													4	185					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619441	24619441	+	Silent	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619441A>T	uc001wmn.1	+	6	1230	c.981A>T	c.(979-981)cgA>cgT	p.R327R	RNF31_uc001wml.1_Silent_p.R176R|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.R142R|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	327	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATCGGCCCCGAGGCTGTAAGG	0.607000													31	48					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500781	26500781	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:26500781G>A	uc001isn.2	+	34	5100	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G596S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1580					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGCTGGGCGGCGGAGAGCC	0.662000													13	43					0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640764	34640764	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:34640764C>T	uc010ucc.2	+	2	1077	c.695C>T	c.(694-696)tCc>tTc	p.S232F	C15orf55_uc010ucd.2_Missense_Mutation_p.S222F|C15orf55_uc001zif.3_Missense_Mutation_p.S204F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	204						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGTGACCGCTCCAAAATTTCC	0.562000			T	"""BRD3, BRD4"""	lethal midline carcinoma								5	66					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081825	1081825	+	Silent	SNP	C	C	T	rs138705098		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:1081825C>T	uc003jbu.3	-	8	1230	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	388					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCACAAACGCCCCCGCGT	0.662000													8	68					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46747678	46747678	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr11:46747678G>C	uc001ndf.4	+	6	872	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	277	Kringle 2.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTGCTATGTGGCCGGGAAGCC	0.597000													7	125					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619440	24619440	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619440G>T	uc001wmn.1	+	6	1229	c.980G>T	c.(979-981)cGa>cTa	p.R327L	RNF31_uc001wml.1_Missense_Mutation_p.R176L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R142L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	327	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607000													31	47					1.88708e-17	1.99975e-17	1	1	0
PDHA1	5160	broad.mit.edu	37	X	19368154	19368154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:19368154C>T	uc004czg.4	+	2	362	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PDHA1_uc004czh.4_Nonsense_Mutation_p.R111*|PDHA1_uc011mjc.2_Nonsense_Mutation_p.R73*|PDHA1_uc011mjd.2_Nonsense_Mutation_p.R73*	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GACTGTACGCCGAATGGAGTT	0.483000													7	145					0	0	1	0	0
SPANXE	171489	broad.mit.edu	37	X	140785691	140785691	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:140785691G>T	uc004fbq.3	-	1	318	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	75						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					GGTTGATTCTGTTCTTTCGGG	0.443000													22	335					2.27525e-19	2.44762e-19	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:72821618A>G	uc002fck.3	-	9	11230	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2605G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(6)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													6	31					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47730353	47730353	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:47730353C>A	uc002eev.4	+	28	3009	c.2957C>A	c.(2956-2958)aCg>aAg	p.T986K	PHKB_uc002eeu.4_Missense_Mutation_p.T979K|PHKB_uc002eew.4_Missense_Mutation_p.T227K	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTGAAGACACGTTGGGAAAT	0.408000													14	53					2.61681e-11	2.69266e-11	1	1	0
AL117485	0	broad.mit.edu	37	22	18846025	18846025	+	RNA	SNP	G	G	C	rs5993363		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:18846025G>C	uc002zoe.3	+	4		c.2387G>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GACGTTGAAGGCTGCCTTCAG	0.647000													8	103					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168269	19168269	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:19168269G>A	uc001bba.1	-	4	1546	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597000													24	40					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016949	23016949	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:23016949G>A	uc002wsr.2	+	0	893	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	277					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.Y276Y(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCTTTCTACGTGGTGCAGCT	0.587000													5	114					0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073541	67073541	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:67073541A>T	uc002aqf.3	+	3	2082	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.I126F	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	387	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCAGCAAGATCGGCTTCGG	0.672000													4	36					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91546926	91546926	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:91546926G>A	uc001tbt.3	-	5	947	c.693C>T	c.(691-693)aaC>aaT	p.N231N	DCN_uc001tbo.3_Silent_p.N122N|DCN_uc001tbp.3_Silent_p.N84N|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.N231N	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	231					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGCTGATTTTGTTGCCATCAA	0.358000													8	77					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323107	31323107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:31323107C>T	uc003jhe.2	+	11	2425	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R689Q(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACAAATTACGAAGGGACAT	0.502000													6	56					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:39947886C>T	uc001rmb.2	-	9	2477	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	684	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R684H(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348000													3	38					0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065803	2065803	+	Silent	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:2065803C>G	uc003geq.2	+	2	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	286						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGAGCGCCTCTTCTTCCAGG	0.711000													13	20					0	0	1	0	0
VAMP5	10791	broad.mit.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:85818866C>T	uc002spu.1	+	1	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(2)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602000													10	85					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57597953	57597953	+	Silent	SNP	C	C	T	rs150453159	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:57597953C>T	uc002yak.3	+	1	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	37					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597000													26	36					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:114058129T>C	uc003ebi.3	-	4	2129	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	ZBTB20_uc003ebj.3_Missense_Mutation_p.N577S|ZBTB20_uc010hqp.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebk.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebl.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebm.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebn.3_Missense_Mutation_p.N577S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527000													101	122					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:37430910C>T	uc021ppc.1	+	6	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T306M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						AGGGAAATTACGAGTCCTGCA	0.433000													65	86					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54446754	54446754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr18:54446754C>T	uc002lgk.1	+	17	3251	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Nonsense_Mutation_p.R981*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1014								p.R1014R(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGCTGGCCCGAAGATGGCA	0.413000													6	42					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48690585	48690585	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48690585C>T	uc003cuf.1	-	11	5694	c.5694G>A	c.(5692-5694)agG>agA	p.R1898R	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.R1828R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1828	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCGAGCCCCTGGTCACTG	0.617000													6	118					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204546	9204546	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:9204546C>T	uc010xkj.2	+	0	626	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGATAGCCACGCCCTTTGTC	0.567000													52	74					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129354412	129354412	+	Silent	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:129354412A>G	uc004evm.3	-	12	1641	c.1438T>C	c.(1438-1440)Ttg>Ctg	p.L480L	ZNF280C_uc010nrf.2_Silent_p.L431L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTGGTCAAAAATTGTAGT	0.393000													9	156					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442299	33442299	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:33442299G>A	uc003zsx.3	-	5	813	c.710_splice	c.e5+1	p.T237_splice	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	237					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTACTCACGTGAAGACTGC	0.657000													3	28					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645154	36645154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:36645154delC	uc001bzz.3	+	13	2442	c.2226delC	c.(2224-2226)agcfs	p.S742fs	MAP7D1_uc001caa.3_Frame_Shift_Del_p.S709fs|MAP7D1_uc001cab.3_Frame_Shift_Del_p.S704fs|MAP7D1_uc001cac.3_Frame_Shift_Del_p.S441fs|MAP7D1_uc001cad.3_Frame_Shift_Del_p.S278fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	742						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACGGTTCCAGCCCAGGTAAAG	0.617													2	4	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs3217269		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:85039999_85040007delGCAGCGCCA	uc001dka.2	-	0	157_165	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_uc001dkc.3_5'UTR|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	31						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718													5	4	---	---	---	---					
PIKFYVE	200576	broad.mit.edu	37	2	209200822	209200823	+	In_Frame_Ins	INS	-	-	GTCTTC			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209200822_209200823insGTCTTC	uc002vcz.3	+	26	4576_4577	c.4418_4419insGTCTTC	c.(4417-4419)atg>atGTCTTCg	p.1475_1476insSS		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1475					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCAAGGCTCATGTCTTCCTCTG	0.441													21	86	---	---	---	---					
SLC10A4	201780	broad.mit.edu	37	4	48485844	48485844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:48485844delG	uc003gyc.2	+	0	485	c.266delG	c.(265-267)tggfs	p.W89fs		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	89						integral to membrane	bile acid:sodium symporter activity	p.P88L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTCGGCCCTGGGCGCCCCAC	0.756													2	4	---	---	---	---					
SNX31	169166	broad.mit.edu	37	8	101589305	101589308	+	Splice_Site	DEL	TAGA	TAGA	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr8:101589305_101589308delTAGA	uc003yjr.3	-	13	1322	c.1171_splice	c.e13-1	p.Q391_splice	SNX31_uc011lha.2_Splice_Site_p.Q186_splice|SNX31_uc011lhb.2_Splice_Site_p.Q292_splice	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	391					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAATCTGCTAGATAGATTAGTG	0.363													43	94	---	---	---	---					
PAN3	255967	broad.mit.edu	37	13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:28713125delC	uc001urz.3	+	0	483	c.331delC	c.(331-333)cccfs	p.P111fs	PAN3_uc010tdo.1_Frame_Shift_Del_p.P111fs|PAN3-AS1_uc021rhn.1_5'UTR	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	111	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771													2	4	---	---	---	---					
RNASEH2B	79621	broad.mit.edu	37	13	51530587	51530587	+	Frame_Shift_Del	DEL	A	A	-	rs75254367		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:51530587delA	uc001vfa.4	+	10	1315	c.916delA	c.(916-918)aaafs	p.K306fs	RNASEH2B_uc001vfb.4_Intron	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	306					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGTAAAAAATAAAAAAAAAAT	0.299													3	6	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:57731885_57731887delGGA	uc002emi.3	+	1	113_115	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_uc002emj.3_In_Frame_Del_p.E13del|CCDC135_uc002emk.3_In_Frame_Del_p.E13del	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	167	---	---	---	---					
CES2	8824	broad.mit.edu	37	16	66977769	66977770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:66977769_66977770insT	uc002eqr.3	+	11	2713_2714	c.1713_1714insT	c.(1711-1716)cactggfs	p.H571fs	CES2_uc002eqq.3_Frame_Shift_Ins_p.H555fs|CES2_uc002eqs.3_Frame_Shift_Ins_p.H414fs	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	507					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTCTGCCACACTGGCCGCTGTT	0.634													7	112	---	---	---	---					
NDUFA3	4696	broad.mit.edu	37	19	54610132	54610135	+	Frame_Shift_Del	DEL	GATG	GATG	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:54610132_54610135delGATG	uc002qde.3	+	3	205_208	c.178_181delGATG	c.(178-183)gatgggfs	p.D60fs	NDUFA3_uc002qdf.3_Non-coding_Transcript	NM_004542	NP_004533	O95167	NDUA3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CGTCCGTGATGATGGGAACATGCC	0.642													11	6	---	---	---	---					
