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
HKDC1	80201	broad.mit.edu	37	10	71007216	71007216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:71007216G>A	uc001jpf.4	+	8	1265	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	HKDC1_uc010qje.2_Missense_Mutation_p.V241I	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	378					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V378I(2)|p.V378V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTACCATCGTCTCCTTCCG	0.582000													13	90					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	uc001cpx.3	+	3	760	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	DMBX1_uc001cpw.3_Missense_Mutation_p.L244F	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	249					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L249F(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627000													59	289					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78403582G>A	uc010ums.1	-	2	444	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_uc002bdb.1_Silent_p.L41L|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	41							calcium ion binding	p.L41L(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607000													7	128					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	rs145801611	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:86373542G>A	uc010sum.2	-	5	1193	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	MGAT4C_uc001tal.4_Missense_Mutation_p.T321M|MGAT4C_uc001taj.4_Missense_Mutation_p.T321M|MGAT4C_uc001tak.4_Missense_Mutation_p.T321M|MGAT4C_uc001tai.4_Missense_Mutation_p.T321M|MGAT4C_uc001tah.4_Missense_Mutation_p.T321M	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	321					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403000													8	162					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56481946	56481946	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:56481946C>A	uc001sjh.3	+	7	1150	c.874_splice	c.e7+1	p.H292_splice	ERBB3_uc009zoj.3_Splice_Site|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Splice_Site_p.H233_splice|ERBB3_uc001sji.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	292					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.H292N(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGCTGTCCCCGTAAGTGTCT	0.443000													3	81					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42312921	42312921	+	Silent	SNP	G	G	A	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	uc002orn.1	+	2	571	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_uc010eia.1_Silent_p.A165A|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	165						integral to membrane		p.A165A(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607000													72	282					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:153043291G>A	uc003qpc.4	+	1	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	204						nucleus		p.R204H(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532000													25	139					0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	uc003kub.1	+	0	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	12								p.P12R(2)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378000													5	170					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29314300	29314300	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	uc001brm.2	+	1	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Silent_p.E117E|EPB41_uc009vtk.2_Silent_p.E117E|EPB41_uc001brk.3_Silent_p.E117E|EPB41_uc001brl.2_Silent_p.E117E|EPB41_uc021okg.1_Silent_p.E117E|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_5'UTR	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	117					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423000													8	286					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	uc001vql.3	-	1	1480	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	322						integral to membrane	binding	p.F322L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408000											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	102					0	0	1	0	0
RWDD4	201965	broad.mit.edu	37	4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	uc021xvb.1	-	5	716	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_uc003ivt.1_Missense_Mutation_p.G164R|RWDD4_uc011ckl.1_Non-coding_Transcript	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	Homo sapiens RWD domain containing 4 (RWDD4), mRNA.	164								p.G164R(2)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289000													8	254					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293127	42293127	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	uc010czs.3	-	4	665	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_uc002igc.3_Silent_p.F123F|UBTF_uc002igd.3_Silent_p.F123F|UBTF_uc010czt.3_Silent_p.F123F|UBTF_uc002ige.2_Silent_p.F123F	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	123					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.F123F(2)|p.F123delF(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493000													51	138					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	uc010ihh.3	+	13	2668	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_uc003hcq.4_Missense_Mutation_p.W832L|LPHN3_uc003hct.3_Missense_Mutation_p.W225L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	819	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.W832L(4)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403000													14	57					0	0	1	0	0
NIPA2	81614	broad.mit.edu	37	15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	uc001yvb.3	-	9	1401	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_uc001yux.3_Missense_Mutation_p.I182L|NIPA2_uc001yuy.3_Missense_Mutation_p.I182L|NIPA2_uc001yuz.3_Missense_Mutation_p.I182L|NIPA2_uc010ayb.3_Missense_Mutation_p.I163L|NIPA2_uc001yva.3_Missense_Mutation_p.I163L	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	182						early endosome|integral to membrane|plasma membrane		p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502000													3	74					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197583282	197583282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:197583282G>A	uc002utp.1	+	17	2057	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CCDC150_uc010zgs.1_Missense_Mutation_p.R288H|CCDC150_uc010zgt.1_Missense_Mutation_p.R58H|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	641								p.R641H(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTGTCGTAATGCGGCC	0.428000													17	54					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913387	170913387	+	Silent	SNP	C	C	T	rs141578578		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:170913387C>T	uc003isp.4	-	2	550	c.372G>A	c.(370-372)acG>acA	p.T124T	MFAP3L_uc003isn.4_Silent_p.T21T|MFAP3L_uc021xuj.1_Silent_p.T21T	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	124	Ig-like C2-type.					integral to membrane|plasma membrane		p.T124T(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGCCACACACGTGTATTTAC	0.512000													7	268					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510998	119510998	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:119510998G>A	uc003pym.1	-	9	1819	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	459					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I459I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498000													29	86					0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803633	160803633	+	Missense_Mutation	SNP	G	G	A	rs143966469		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:160803633G>A	uc003fdv.3	-	4	1329	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	B3GALNT1_uc003fdw.3_Missense_Mutation_p.R304C|B3GALNT1_uc003fdx.3_Missense_Mutation_p.R304C|B3GALNT1_uc003fdy.3_Missense_Mutation_p.R304C|B3GALNT1_uc003fdz.3_Missense_Mutation_p.R304C|B3GALNT1_uc003fea.3_Missense_Mutation_p.R304C|B3GALNT1_uc011bpa.2_Missense_Mutation_p.R64C|B3GALNT1_uc021xgw.1_Missense_Mutation_p.R304C	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	304					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity	p.R304C(2)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GCAATCACACGTCTCAGTTGA	0.378000													20	72					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:119576827G>A	uc001ehn.3	-	4	553	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_uc010oxf.2_Silent_p.H81H|WARS2_uc001ehm.3_Silent_p.H175H|WARS2_uc010oxg.2_Silent_p.H118H|WARS2_uc010oxh.2_Missense_Mutation_p.R147C|WARS2_uc010oxi.2_Missense_Mutation_p.R53C	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(3)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433000													8	140					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	uc001tfz.3	+	3	1088	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_uc001tfy.3_Missense_Mutation_p.H160Y|APAF1_uc001tga.3_Missense_Mutation_p.H160Y|APAF1_uc001tgb.3_Missense_Mutation_p.H171Y|APAF1_uc001tgc.3_Missense_Mutation_p.H171Y	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	171	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	p.H171Y(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383000													5	58					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	uc009zzj.3	-	4	1252	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	383					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A383T(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637000													42	85					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:196459055C>T	uc001gtd.1	-	2	248	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_uc001gte.1_Missense_Mutation_p.R63H|KCNT2_uc001gtf.1_Missense_Mutation_p.R63H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.R63H|KCNT2_uc009wyv.1_Missense_Mutation_p.R63H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	63						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R63P(2)|p.R63H(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289000													51	173					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													4	22					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766663	130766663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:130766663G>A	uc003kvn.2	-	25	4560	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	RAPGEF6_uc003kvp.2_Nonsense_Mutation_p.Q1502*|RAPGEF6_uc003kvo.2_Nonsense_Mutation_p.Q1465*|RAPGEF6_uc010jdi.2_Nonsense_Mutation_p.Q1460*|RAPGEF6_uc010jdj.2_Nonsense_Mutation_p.Q1460*|RAPGEF6_uc003kvm.2_Nonsense_Mutation_p.Q375*	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1452			Q -> R (in dbSNP:rs1291602).		Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.Q1452*(1)|p.Q1465*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATACTCTCTGTTTAACTGTC	0.463000													73	268					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152099	72152099	+	Missense_Mutation	SNP	G	G	A	rs141106111	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:72152099G>A	uc001xms.3	+	9	3486	c.3125G>A	c.(3124-3126)cGc>cAc	p.R1042H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1042H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1042H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1042H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R517H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1042	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R1042H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAACCTACCGCATGCCAGTG	0.448000													9	364					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:60342186T>C	uc010woz.2	-	13		c.1943A>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	17					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023728	31023728	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:31023728G>A	uc021wbw.1	+	12	3645	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	ASXL1_uc002wxs.3_Silent_p.A1070A|ASXL1_uc010geb.3_Silent_p.A962A	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1071					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A1071A(2)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTATGTGCGGTCCGCCAAA	0.567000			"""F, N, Mis"""		"""MDS, CMML"""								52	137					0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339511	72339511	+	RNA	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:72339511A>C	uc010lal.1	-	0		c.145T>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACCACTCCATCTTCCTTTT	0.582000													4	69					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944188	81944188	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	uc002fgt.3	+	17	1975	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y	PLCG2_uc010chg.1_Silent_p.Y599Y	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	599	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.Y599Y(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647000													6	230					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	uc003jde.3	+	1	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R182C(2)|p.A181A(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632000													22	124					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106761	27106761	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	uc001bmv.1	+	19	6745	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_uc001bmu.1_Silent_p.K1907K|ARID1A_uc001bmx.1_Silent_p.K970K|ARID1A_uc009vsm.1_Silent_p.K452K|ARID1A_uc009vsn.1_Silent_p.K366K	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2124					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.K2124K(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								37	141					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	uc001ziu.1	-	1	364	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding	p.R41W(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672000													9	47					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	uc001ocv.3	+	1	1144	c.547C>T	c.(547-549)Cct>Tct	p.P183S	TM7SF2_uc001oct.3_Missense_Mutation_p.P162S|TM7SF2_uc010rny.2_Missense_Mutation_p.P46S|TM7SF2_uc001ocu.3_Missense_Mutation_p.P162S	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587000											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	170					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751591	141751591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:141751591C>A	uc002tvj.1	-	15	3589	c.2617G>T	c.(2617-2619)Gga>Tga	p.G873*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	873	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G873*(2)|p.G873G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCGCTTCCGTCTAGGCAG	0.433000										TSP Lung(27;0.18)			4	153					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	uc003mfr.4	+	4	1609	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_uc003mft.4_Missense_Mutation_p.E222K|NSD1_uc003mfs.1_Missense_Mutation_p.E388K|NSD1_uc011dfx.2_Missense_Mutation_p.E139K	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	491					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	p.E491K(4)		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)		AGATGAGAAGGAAAAGCCTTG	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	115					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124537227	124537227	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	uc003vlm.3	-	4	602	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	1					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303000													22	95					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	rs143733086	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	uc003gvz.4	+	16	3040	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	LIMCH1_uc003gwe.4_Missense_Mutation_p.R490W|LIMCH1_uc003gvu.4_Missense_Mutation_p.R490W|LIMCH1_uc003gvv.4_Missense_Mutation_p.R490W|LIMCH1_uc003gvw.4_Missense_Mutation_p.R490W|LIMCH1_uc003gvx.4_Missense_Mutation_p.R478W|LIMCH1_uc003gvy.4_Missense_Mutation_p.R319W|LIMCH1_uc003gwa.4_Missense_Mutation_p.R331W|LIMCH1_uc011byu.2_Missense_Mutation_p.R324W|LIMCH1_uc003gwc.4_Missense_Mutation_p.R336W|LIMCH1_uc003gwd.4_Missense_Mutation_p.R324W|LIMCH1_uc011byv.2_Missense_Mutation_p.R241W	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	490					actomyosin structure organization		actin binding|zinc ion binding	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498000													10	408					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	uc003xsd.1	+	3	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	680					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A680V(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323000													5	69					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	uc010idk.3	-	3	569	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_uc003glc.4_Missense_Mutation_p.T142A|ACOX3_uc003gld.4_Missense_Mutation_p.T142A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	142					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.T142A(2)|p.L141L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403000													4	109					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721017	70721017	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	uc003heo.3	-	3	384	c.271_splice	c.e3+1	p.G91_splice	SULT1E1_uc010ihv.1_Splice_Site_p.G91_splice	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	91					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTGAACGTTACCATTCATGA	0.318000													10	74					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149247706	149247706	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:149247706G>A	uc003lrg.4	-	17	2271	c.2151C>T	c.(2149-2151)acC>acT	p.T717T	PDE6A_uc021yfs.1_Silent_p.T636T	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	717					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T717T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATCACAGGCGGTCATCATCA	0.547000													6	218					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192755	123192755	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	uc003ieh.3	+	44	8121	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_uc003iel.1_Silent_p.V627V|KIAA1109_uc003iek.2_Silent_p.V1311V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2692					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V2692V(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373000													5	89					0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	uc010moy.1	-	5	898	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_uc010mox.1_Missense_Mutation_p.V103G|ZFAND5_uc004aix.2_Missense_Mutation_p.V206G|ZFAND5_uc004aiw.2_Missense_Mutation_p.V206G|ZFAND5_uc004aiy.2_Missense_Mutation_p.V206G	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	206							DNA binding|zinc ion binding	p.V206G(2)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343000													19	104					0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017716	26017716	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:26017716C>T	uc003nfo.3	-	0	325	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	82	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	p.R82H(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGCTTAATGCGGCTGTTGTT	0.572000													6	83					0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988884	101988884	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:101988884C>T	uc011kkp.2	-	5	1410	c.989G>A	c.(988-990)cGc>cAc	p.R330H	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	330	Arg-rich.																CAAGGGTATGCGAGAGCGGTT	0.577000													34	494					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472477	73472477	+	Silent	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:73472477C>A	uc001jrx.4	+	26	3660	c.3270C>A	c.(3268-3270)gtC>gtA	p.V1090V	CDH23_uc001jrz.3_Silent_p.V1090V|C10orf105_uc001jsa.2_3'UTR|C10orf105_uc001jsb.2_3'UTR|CDH23_uc001jsc.1_5'UTR	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1092	Cadherin 10.		V -> I (in USH1D).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V1097V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCGTCACTGTCCTGGATGTGA	0.582000													3	39					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830734	2830734	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:2830734C>T	uc022aqr.1	-	56	9218	c.8828G>A	c.(8827-8829)cGc>cAc	p.R2943H	CSMD1_uc011kwj.2_Missense_Mutation_p.R2273H|CSMD1_uc010lrg.3_Missense_Mutation_p.R954H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2944	Sushi 22.					integral to membrane		p.R2943H(1)|p.R2672H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGAGAAGCGGAGAAGACT	0.537000													55	186					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	uc003kqs.3	-	8	2071	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	TRIM36_uc011cwc.2_Missense_Mutation_p.C509Y|TRIM36_uc003kqt.3_Missense_Mutation_p.C366Y	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	521	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.C521Y(3)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368000													25	119					0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183960200	183960200	+	RNA	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:183960200G>T	uc003ivi.4	+	0		c.1383G>T								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		AACAGGACAGGTATCCACTAC	0.388000													5	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	uc002mkp.3	-	4	34735	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11513	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498000													53	140					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12302059	12302059	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:12302059G>A	uc001rah.4	-	13	3165	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1008L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1008	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.P1008L(3)|p.P1008S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTTCTGACTCGGAACTGAGCT	0.433000													11	390					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50401031	50401031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:50401031C>T	uc002xwh.4	-	3	3036	c.2935G>A	c.(2935-2937)Ggt>Agt	p.G979S	SALL4_uc010gii.3_Missense_Mutation_p.G542S|SALL4_uc002xwi.4_Missense_Mutation_p.G202S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	979					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G979S(2)|p.G979D(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGGCCAGACCGCCATTGAGC	0.547000													25	160					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	uc003iuq.2	-	0	244	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	44					intracellular signal transduction			p.V44L(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393000													7	128					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176306757	176306757	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176306757C>A	uc003mey.3	+	14	2591	c.2399C>A	c.(2398-2400)aCa>aAa	p.T800K		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	800	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.T800K(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGCCCCACAGCCATGATC	0.692000													4	65					0	0	1	0	0
ZNRF2	223082	broad.mit.edu	37	7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	uc003tat.3	+	3	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	Homo sapiens zinc and ring finger 2 (ZNRF2), mRNA.	239						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.H239N(2)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294000													19	106					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	uc021wuu.1	-	9	2648	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_uc003ceu.1_Nonsense_Mutation_p.W416*|OSBPL10_uc011axf.2_Nonsense_Mutation_p.W595*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	659					lipid transport		lipid binding	p.W659*(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433000													72	242					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596188	161596188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:161596188C>A	uc009wul.3	-	3	692	c.432G>T	c.(430-432)tgG>tgT	p.W144C	FCGR3B_uc021pdo.1_Missense_Mutation_p.W108C	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	108	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.W108C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGCAACAGCCAGCCTGAAA	0.567000													3	50					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:51022077G>A	uc002pss.3	-	2	1030	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	298						cell junction|integral to membrane|presynaptic membrane		p.T298M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637000													27	113					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	uc001rbw.3	+	13	3515	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	ATF7IP_uc001rbx.3_Missense_Mutation_p.Q1118H|ATF7IP_uc001rby.4_Missense_Mutation_p.Q1119H|ATF7IP_uc001rca.3_Missense_Mutation_p.Q1119H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1119					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.Q1119H(2)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383000													19	59					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36923352	36923352	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	uc003zzo.1	-	7	1358	c.910_splice	c.e7+1	p.G304_splice	PAX5_uc011lpt.1_Splice_Site_p.G100_splice|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Splice_Site_p.G261_splice|PAX5_uc010mlr.1_Intron|PAX5_uc011lpw.1_Splice_Site_p.G304_splice|PAX5_uc011lpx.1_Splice_Site_p.G238_splice|PAX5_uc011lpy.1_Splice_Site_p.G196_splice|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Splice_Site_p.G261_splice|PAX5_uc011lqa.1_Splice_Site_p.G196_splice|PAX5_uc010mlq.1_Intron|PAX5_uc011lqb.1_Intron|PAX5_uc010mlo.1_Splice_Site_p.G304_splice|PAX5_uc010mlp.1_Splice_Site_p.G304_splice	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	304		Breakpoint for translocation to form PAX5-ZNF521.			cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								40	131					0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248286076	248286076	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:248286076C>T	uc001idy.1	+	0	639	c.639C>T	c.(637-639)ctC>ctT	p.L213L						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ACACCATCCTCACTCCCATGC	0.498000													7	212					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	uc002rcc.1	-	16	1875	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	617								p.A617T(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413000													52	254					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	uc010bnp.1	+	9	904	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_uc002bnm.1_Missense_Mutation_p.I272V|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.I93V	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	272					DNA repair|cell cycle	nucleoplasm	protein binding	p.I272V(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	358					0	0	1	0	0
