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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
USP48	84196	broad.mit.edu	37	1	22084264	22084264	+	Silent	SNP	T	C	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	uc001bfb.2	-	2	385	c.147A>G	c.(145-147)AAA>AAG	p.K49K	USP48_uc010odq.1_Silent_p.K49K|USP48_uc009vqc.2_Silent_p.K49K|USP48_uc001bfc.2_Silent_p.K49K|USP48_uc001bfe.1_Silent_p.K49K|USP48_uc001bff.2_Silent_p.K49K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	49					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGGATTTCCTTTGCAGTTTC	0.274000													19	22	---	---	---	---	0	0	0.007413	0	0
JAK1	3716	broad.mit.edu	37	1	65309860	65309860	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	uc001dbu.1	-	17	2539	c.2290G>A	c.(2290-2292)GTT>ATT	p.V764I	JAK1_uc009wam.1_Missense_Mutation_p.V752I|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	764	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGTCCTCAACACACTCAGGA	0.488000			Mis		ALL								42	105	---	---	---	---	0	0	0.010771	0	0
NUP210L	91181	broad.mit.edu	37	1	153984831	153984831	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	uc001fdw.2	-	34	4741	c.4669T>A	c.(4669-4671)TCA>ACA	p.S1557T	NUP210L_uc009woq.2_Missense_Mutation_p.S466T|NUP210L_uc010peh.1_Missense_Mutation_p.S1557T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1557						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATCTTGATGATGCATTGACC	0.413000													64	103	---	---	---	---	0	0	0.014410	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152767	233152767	+	Missense_Mutation	SNP	A	T	T	rs147956389	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	uc001hvl.2	-	27	4974	c.4739T>A	c.(4738-4740)ATT>AAT	p.I1580N	PCNXL2_uc001hvk.1_Missense_Mutation_p.I232N|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1580						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCATCATCAATGTTAATGTT	0.458000													38	54	---	---	---	---	0	0	0.006230	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950925	14950925	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	uc001inn.2	-	14	1646	c.1561C>T	c.(1561-1563)CTT>TTT	p.L521F	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Missense_Mutation_p.L174F|DCLRE1C_uc001inl.2_Missense_Mutation_p.L401F|DCLRE1C_uc009xji.2_Missense_Mutation_p.L406F|DCLRE1C_uc001inm.2_Missense_Mutation_p.L401F|DCLRE1C_uc001ino.2_Missense_Mutation_p.L406F|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.L401F|DCLRE1C_uc001inq.2_Missense_Mutation_p.L401F|DCLRE1C_uc001inr.2_Missense_Mutation_p.L406F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	521					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						TCACTGAAAAGCTTTGGTGAC	0.453000								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					10	29	---	---	---	---	0	0	0.006214	0	0
ADO	84890	broad.mit.edu	37	10	64565000	64565000	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	uc001jmg.2	+	1	485	c.181C>G	c.(181-183)CTC>GTC	p.L61V		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	61							cysteamine dioxygenase activity|metal ion binding				0	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687000													13	9	---	---	---	---	0	0	0.020292	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735773	55735773	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	uc010rit.1	-	1	167	c.167A>G	c.(166-168)AAT>AGT	p.N56S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343000													26	59	---	---	---	---	0	0	0.005443	0	0
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	T	T	rs139300657	byFrequency	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	uc001nml.1	-	1	476	c.476G>A	c.(475-477)CGT>CAT	p.R159H	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542000													3	18	---	---	---	---	0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118769524	118769524	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:118769524G>A	uc001pug.2	-	8	5065	c.4100C>T	c.(4099-4101)GCG>GTG	p.A1367V	BCL9L_uc009zal.2_Missense_Mutation_p.A1362V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1367	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCTGCTCCGCCATCATGTT	0.617000													3	47	---	---	---	---	0	0	0.004672	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836053	14836053	+	Silent	SNP	G	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	uc001rcd.2	-	4	671	c.534C>T	c.(532-534)AAC>AAT	p.N178N	GUCY2C_uc009zhz.2_Silent_p.N178N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	178	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						AGGGCAGATCGTTGGTTTTCC	0.383000													21	24	---	---	---	---	0	0	0.018920	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19501352	19501352	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	uc001reb.2	+	19	2506	c.2420A>G	c.(2419-2421)TAC>TGC	p.Y807C	PLEKHA5_uc010sie.1_Missense_Mutation_p.Y968C|PLEKHA5_uc001rea.2_Missense_Mutation_p.Y865C|PLEKHA5_uc009zin.2_Missense_Mutation_p.Y565C|PLEKHA5_uc010sif.1_Missense_Mutation_p.Y796C|PLEKHA5_uc010sig.1_Missense_Mutation_p.Y789C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y762C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y616C|PLEKHA5_uc009zio.2_Intron	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	807							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333000													9	78	---	---	---	---	0	0	0.006214	0	0
OR4M1	441670	broad.mit.edu	37	14	20249247	20249247	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	uc010tku.1	+	1	766	c.766T>C	c.(766-768)TCC>CCC	p.S256P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTGGGCCATCCATCTACAT	0.423000													43	126	---	---	---	---	0	0	0.014410	0	0
Unknown	0	broad.mit.edu	37	15	102294697	102294697	+	Silent	SNP	G	T	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr15:102294697G>T	uc010usj.1	+	5	584	c.525G>T	c.(523-525)GCG>GCT	p.A175A	uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank|uc002bzr.2_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																		TCGTGGAGGCGTCGGCAGAGC	0.602000													4	21	---	---	---	---	0.00024832	0.00025987	0.009096	1	0
TEPP	374739	broad.mit.edu	37	16	58011728	58011728	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr16:58011728G>A	uc002emw.3	+	2	210	c.173G>A	c.(172-174)CGC>CAC	p.R58H	TEPP_uc002emv.3_Missense_Mutation_p.R58H	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	58						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						GCTATGGCCCGCATCATTGAC	0.632000													5	156	---	---	---	---	0	0	0.001168	0	0
MYH3	4621	broad.mit.edu	37	17	10558261	10558261	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	uc002gmq.1	-	2	198	c.121G>T	c.(121-123)GTG>TTG	p.V41L		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	41	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TTTGAGTCCACCACGAAGCAA	0.507000													54	162	---	---	---	---	3.88204e-17	4.26077e-17	0.014410	1	0
APOH	350	broad.mit.edu	37	17	64212937	64212937	+	Silent	SNP	C	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:64212937C>A	uc002jfn.3	-	6	812	c.753G>T	c.(751-753)CTG>CTT	p.L251L		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	251	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACCAGTTTCCCAGTTTGGTAC	0.418000													4	108	---	---	---	---	0.00909568	0.0093024	0.009096	1	0
FUT3	2525	broad.mit.edu	37	19	5844724	5844724	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	uc002mdk.2	-	2	224	c.127G>T	c.(127-129)GGA>TGA	p.G43*	FUT3_uc002mdm.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdj.2_Nonsense_Mutation_p.G43*|FUT3_uc002mdl.2_Nonsense_Mutation_p.G43*|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	43	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						CTAGGGGATCCAGTGGCATCG	0.622000													8	12	---	---	---	---	3.09899e-07	3.32034e-07	0.004482	1	0
APOB	338	broad.mit.edu	37	2	21245891	21245891	+	Missense_Mutation	SNP	T	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	uc002red.2	-	18	2756	c.2628A>T	c.(2626-2628)AAA>AAT	p.K876N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	876					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACGGAGGGTTTTGCCACCA	0.473000													4	69	---	---	---	---	0	0	0.014758	0	0
ABCG8	64241	broad.mit.edu	37	2	44079903	44079903	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	uc002rtq.2	+	6	950	c.860C>T	c.(859-861)ACG>ATG	p.T287M	ABCG8_uc010yoa.1_Missense_Mutation_p.T287M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	287	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCCTGATGACGTCTGGCACC	0.587000													6	71	---	---	---	---	0	0	0.001168	0	0
DOK5	55816	broad.mit.edu	37	20	53267018	53267018	+	Nonstop_Mutation	SNP	A	T	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	uc002xwy.2	+	8	1141	c.921A>T	c.(919-921)TGA>TGT	p.*307C	DOK5_uc010gin.2_Nonstop_Mutation_p.*199C|DOK5_uc002xwz.2_Nonstop_Mutation_p.*169C	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	307							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423000													4	45	---	---	---	---	0	0	0.014758	0	0
HEG1	57493	broad.mit.edu	37	3	124746059	124746059	+	Silent	SNP	G	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	uc003ehs.3	-	3	971	c.903C>T	c.(901-903)GAC>GAT	p.D301D	HEG1_uc011bke.1_Silent_p.D301D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	301	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						ATGAGGAAAGGTCTAAGAGAG	0.468000													3	9	---	---	---	---	0	0	0.004672	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:195400728A>G	uc003fuw.2	+	9	1218	c.24A>G	c.(22-24)CCA>CCG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA					SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);												0						GATTGTGCCCAGCCTGTACGC	0.587000													5	40	---	---	---	---	0	0	0.014758	0	0
TKTL2	84076	broad.mit.edu	37	4	164394293	164394293	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	uc003iqp.3	-	1	755	c.594T>G	c.(592-594)CAT>CAG	p.H198Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	198						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527000													37	60	---	---	---	---	0	0	0.006999	0	0
KIF4B	285643	broad.mit.edu	37	5	154393803	154393803	+	Silent	SNP	A	G	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	uc010jih.1	+	1	544	c.384A>G	c.(382-384)AAA>AAG	p.K128K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	128	Kinesin-motor.			K -> Q (in Ref. 1; AF241316).	axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTGATAAAAAGAGTGACT	0.373000													39	75	---	---	---	---	0	0	0.019004	0	0
TBX18	9096	broad.mit.edu	37	6	85446689	85446689	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	uc003pkl.1	-	8	1538	c.1538C>G	c.(1537-1539)ACC>AGC	p.T513S	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	513					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACCCTGATGGGTCTGGTTAGT	0.498000													19	124	---	---	---	---	0	0	0.008871	0	0
LOC442421	442421	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr9:66499716A>G	uc004aee.1	+	1	526	c.526A>G	c.(526-528)AAT>GAT	p.N176D	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						CCTGGAGCCCAATCTGCTGGA	0.607000													11	73	---	---	---	---	0	0	0.020292	0	0
CD46	4179	broad.mit.edu	37	1	207934709	207934724	+	Frame_Shift_Del	DEL	AGATCCATTTTCACTT	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:207934709_207934724delAGATCCATTTTCACTT	uc001hgc.2	+	5	747_762	c.591_606delAGATCCATTTTCACTT	c.(589-606)CCAGATCCATTTTCACTTfs	p.P197fs	CD46_uc001hgd.2_Frame_Shift_Del_p.P197fs|CD46_uc001hge.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgf.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgg.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgh.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgi.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgj.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgk.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgl.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgm.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgn.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgo.2_Frame_Shift_Del_p.P197fs|CD46_uc001hgp.2_Frame_Shift_Del_p.P197fs	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	197_202	Extracellular (Potential).|Sushi 3.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						CACCTGGACCAGATCCATTTTCACTTATTGGAGAGA	0.380													9	45	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133266955	133266955	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	uc001ukt.2	+	2	294	c.229delG	c.(229-231)GTTfs	p.V77fs	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	77	Helical; (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAGATATGCCGTTTACGGGTG	0.498													18	36	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1262015	1262015	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr16:1262015delG	uc002cks.2	+	25	4884	c.4636delG	c.(4636-4638)GTGfs	p.V1546fs	CACNA1H_uc002ckt.2_Frame_Shift_Del_p.V1546fs|CACNA1H_uc002cku.2_Frame_Shift_Del_p.V252fs|CACNA1H_uc010brj.2_Frame_Shift_Del_p.V252fs|CACNA1H_uc002ckv.2_Frame_Shift_Del_p.V252fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1546	Helical; Name=S6 of repeat III; (Potential).|III.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CAGCTTCTTCGTGCTCAACAT	0.642													56	269	---	---	---	---					
Unknown	0	broad.mit.edu	37	17	62932555	62932556	+	IGR	DEL	GT	-	-	rs35142297		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:62932555_62932556delGT								LRRC37A3 (16969 upstream) : AMZ2P1 (30112 downstream)																							gtgtgtgttcgtgtgtgtgtgt	0.238													3	6	---	---	---	---					
LMAN1	3998	broad.mit.edu	37	18	57026573	57026574	+	5'Flank	INS	-	C	C	rs140141851	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr18:57026573_57026574insC	uc002lhz.2	-						LMAN1_uc010xek.1_5'Flank	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor						blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGCCCGGGGGACCCCCAAGGGC	0.752													7	10	---	---	---	---					
SEC23B	10483	broad.mit.edu	37	20	18485751	18485751	+	5'Flank	DEL	A	-	-	rs74180905		TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:18485751delA	uc002wqz.1	+						SEC23B_uc002wra.1_5'Flank|SEC23B_uc002wrb.1_5'Flank|SEC23B_uc010zsb.1_5'Flank|SEC23B_uc002wrc.1_5'Flank	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						CCTCATTCAGAAAAAAAAAAA	0.373													5	6	---	---	---	---					
Unknown	0	broad.mit.edu	37	20	34341658	34341658	+	IGR	DEL	A	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:34341658delA								RBM39 (11465 upstream) : PHF20 (18265 downstream)																							GAAATTAtggaaaaaaaaaaa	0.169													3	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176721551	176721552	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	uc003mfr.3	+	23	7320_7321	c.7182_7183insA	c.(7180-7185)ATTACTfs	p.I2394fs	NSD1_uc003mft.3_Frame_Shift_Ins_p.I2125fs|NSD1_uc011dfx.1_Frame_Shift_Ins_p.I2042fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2394_2395	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACTGCTCATTACTAGCAGTCC	0.545			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			44	76	---	---	---	---					
Unknown	0	broad.mit.edu	37	6	12514262	12514263	+	IGR	DEL	AT	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:12514262_12514263delAT								EDN1 (216836 upstream) : PHACTR1 (202625 downstream)																							acacacacacaTCTCCGAGGAA	0.327													4	8	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08									Somatic	Phase_I	Capture				Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr8:52733063delT	uc003xqx.3	-	6	1263	c.922delA	c.(922-924)ATGfs	p.M308fs	PCMTD1_uc011ldm.1_Frame_Shift_Del_p.M178fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.M308fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.M120fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.M232fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	308						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.284													8	114	---	---	---	---					
