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
PCNXL2	80003	broad.mit.edu	37	1	233152767	233152767	+	Missense_Mutation	SNP	A	A	T	rs147956389	by1000genomes	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:233152767A>T	uc001hvl.2	-	26	4974	c.4739T>A	c.(4738-4740)aTt>aAt	p.I1580N	PCNXL2_uc001hvk.1_Missense_Mutation_p.I232N|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1580						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCATCATCAATGTTAATGTT	0.458000													38	54					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446689	85446689	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr6:85446689G>C	uc003pkl.1	-	7	1538	c.1538C>G	c.(1537-1539)aCc>aGc	p.T513S	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	513					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		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	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769524	118769524	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:118769524G>A	uc001pug.3	-	7	5065	c.4100C>T	c.(4099-4101)gCg>gTg	p.A1367V	BCL9L_uc009zal.3_Missense_Mutation_p.A1362V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	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			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGTCTGCTCCGCCATCATGTT	0.617000													3	47					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64212937	64212937	+	Silent	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:64212937C>A	uc002jfn.4	-	5	812	c.753G>T	c.(751-753)ctG>ctT	p.L251L		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	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			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACCAGTTTCCCAGTTTGGTAC	0.418000													4	108					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844724	5844724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr19:5844724C>A	uc002mdk.2	-	1	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*|FUT3_uc021unn.1_Nonsense_Mutation_p.G43*|BC033124_uc002mdn.3_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	43					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTAGGGGATCCAGTGGCATCG	0.622000													8	12					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22084264	22084264	+	Silent	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:22084264T>C	uc010odq.2	-	1	385	c.147A>G	c.(145-147)aaA>aaG	p.K49K	USP48_uc001bfb.3_Silent_p.K49K|USP48_uc009vqc.3_Silent_p.K49K|USP48_uc001bfc.3_Silent_p.K49K|USP48_uc001bfe.1_Silent_p.K49K|USP48_uc001bff.3_Silent_p.K49K	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	49					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		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	0.333000													19	22					0	0	1	0	0
BC101079	0	broad.mit.edu	37	15	102294697	102294697	+	Silent	SNP	G	G	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr15:102294697G>T	uc010usj.2	+	4	584	c.525G>T	c.(523-525)gcG>gcT	p.A175A	DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		TCGTGGAGGCGTCGGCAGAGC	0.602000													4	21					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735773	55735773	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:55735773T>C	uc010rit.2	-	0	167	c.167A>G	c.(166-168)aAt>aGt	p.N56S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N56N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAGGGAAAAATTGCTAAGAAA	0.343000													26	59					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657	byFrequency	TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr11:57886441C>T	uc001nml.1	-	0	476	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159H(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542000													3	18					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10558261	10558261	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr17:10558261C>A	uc002gmq.2	-	2	209	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	41	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGAGTCCACCACGAAGCAA	0.507000													54	162					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124746059	124746059	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr3:124746059G>A	uc011bke.2	-	2	971	c.903C>T	c.(901-903)gaC>gaT	p.D301D	HEG1_uc003ehs.4_Silent_p.D301D	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	301						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATGAGGAAAGGTCTAAGAGAG	0.468000													3	9					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19501352	19501352	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:19501352A>G	uc010sie.2	+	24	3011	c.2903A>G	c.(2902-2904)tAc>tGc	p.Y968C	PLEKHA5_uc001rea.3_Missense_Mutation_p.Y865C|PLEKHA5_uc001reb.3_Missense_Mutation_p.Y807C|PLEKHA5_uc009zin.3_Missense_Mutation_p.Y565C|PLEKHA5_uc010sig.2_Missense_Mutation_p.Y789C|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y762C|PLEKHA5_uc021qvy.1_Missense_Mutation_p.Y796C|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y616C|PLEKHA5_uc009zio.3_Intron	NM_001143821	NP_001137293	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA.	826							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TATAGACTCTACAAGAGTGAA	0.333000													9	78					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394293	164394293	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr4:164394293A>C	uc003iqp.4	-	0	755	c.594T>G	c.(592-594)caT>caG	p.H198Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	198						cytoplasm	metal ion binding|transketolase activity	p.E197E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCTGCGCCATGCTCAAGGG	0.527000													37	60					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393803	154393803	+	Silent	SNP	A	A	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:154393803A>G	uc010jih.1	+	0	544	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	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			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATTGATAAAAAGAGTGACT	0.373000													39	75					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53267018	53267018	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr20:53267018A>T	uc002xwy.3	+	7	1141	c.921A>T	c.(919-921)tgA>tgT	p.*307C		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	0							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CTGAGCACTGACAGTAACTGC	0.423000													4	45					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079903	44079903	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:44079903C>T	uc002rtq.3	+	5	950	c.860C>T	c.(859-861)aCg>aTg	p.T287M	ABCG8_uc010yoa.2_Missense_Mutation_p.T287M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	287	ABC transporter.				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			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCCTGATGACGTCTGGCACC	0.587000													6	71					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836053	14836053	+	Silent	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:14836053G>A	uc001rcd.3	-	3	671	c.534C>T	c.(532-534)aaC>aaT	p.N178N	GUCY2C_uc009zhz.2_Silent_p.N178N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	178					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			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGGCAGATCGTTGGTTTTCC	0.383000													21	24					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249247	20249247	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr14:20249247T>C	uc010tku.2	+	0	766	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	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	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153984831	153984831	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:153984831A>T	uc001fdw.3	-	33	4741	c.4669T>A	c.(4669-4671)Tca>Aca	p.S1557T	NUP210L_uc009woq.3_Missense_Mutation_p.S466T|NUP210L_uc010peh.2_Missense_Mutation_p.S1557T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1557						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	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	1	0	0
ADO	84890	broad.mit.edu	37	10	64565000	64565000	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:64565000C>G	uc001jmg.3	+	0	485	c.181C>G	c.(181-183)Ctc>Gtc	p.L61V		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	61							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGACCCAGCTCCGCGCCGA	0.687000													13	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245891	21245891	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr2:21245891T>A	uc002red.3	-	17	2756	c.2628A>T	c.(2626-2628)aaA>aaT	p.K876N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACGGAGGGTTTTGCCACCA	0.473000													4	69					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950925	14950925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr10:14950925G>A	uc001inn.3	-	13	1646	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.L174F|DCLRE1C_uc001inl.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inr.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xji.3_Missense_Mutation_p.L406F|DCLRE1C_uc001inm.3_Missense_Mutation_p.L401F|DCLRE1C_uc001ino.3_Missense_Mutation_p.L406F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.L401F|DCLRE1C_uc001inq.3_Missense_Mutation_p.L401F|DCLRE1C_uc021pni.1_Missense_Mutation_p.L406F	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	521					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGAAAAGCTTTGGTGAC	0.453000								Non-homologous end-joining					10	29					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65309860	65309860	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr1:65309860C>T	uc001dbu.1	-	16	2539	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	JAK1_uc009wam.1_Missense_Mutation_p.V764I|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	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			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GAGTCCTCAACACACTCAGGA	0.488000			Mis		ALL								42	105					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721551	176721552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr5:176721551_176721552insA	uc003mfr.4	+	22	7320_7321	c.7182_7183insA	c.(7180-7185)attactfs	p.I2394fs	NSD1_uc003mft.4_Frame_Shift_Ins_p.I2125fs|NSD1_uc011dfx.2_Frame_Shift_Ins_p.I2042fs|NSD1_uc021yip.1_Frame_Shift_Ins_p.I218fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2394	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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			44	76	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133266955	133266955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A28V-01A-11D-A19J-08	TCGA-BJ-A28V-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19233fd1-5229-466e-acf3-5882165758e0	deb47ec0-3300-4e16-867e-cc3fe8cc3e57	g.chr12:133266955delG	uc001ukt.3	+	1	294	c.229delG	c.(229-231)gttfs	p.V77fs	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	77						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	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	---	---	---	---