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
JAK3	3718	broad.mit.edu	37	19	17950419	17950419	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:17950419T>A	uc002nhn.4	-	9	1408	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Silent_p.G436G|JAK3_uc010xpx.1_Silent_p.G436G	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	436	SH2; atypical.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G436G(3)|p.T435I(1)|p.G436R(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAAGGAAGGTTCCTGTGGGGC	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	30					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565060	58565060	+	Silent	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:58565060C>A	uc002qrc.1	+	5	1115	c.868C>A	c.(868-870)Cgg>Agg	p.R290R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	290					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R290R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGAGGTGGGCGGCCCTTCCA	0.652000													4	100					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745360	25745360	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr8:25745360C>T	uc003xes.2	-	8	1145	c.880G>A	c.(880-882)Gag>Aag	p.E294K	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	294	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.E294K(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGCTTACCTCGCTCCATACA	0.463000													37	58					0	0	1	0	0
SNX12	29934	broad.mit.edu	37	X	70280884	70280884	+	Silent	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:70280884C>A	uc004dyr.1	-	3	546	c.471G>T	c.(469-471)ccG>ccT	p.P157P	SNX12_uc004dyp.1_Non-coding_Transcript|BC080535_uc004dyq.3_5'Flank	NM_013346	NP_037478	Q9UMY4	SNX12_HUMAN	Homo sapiens sorting nexin 12 (SNX12), transcript variant 2, mRNA.	157					cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	p.P157P(2)|p.V156I(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCACCTTCCCCGGGACGTAGT	0.512000													3	22					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313415	197313415	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:197313415A>G	uc001gtz.3	+	2	866	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_uc010poz.2_Silent_p.V150V|CRB1_uc001gty.2_Silent_p.V219V|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.V219V|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	219	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.V219V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAAAGGTGTAAACTGTGAAT	0.398000													6	397					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100405575	100405575	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:100405575G>A	uc001ygr.3	+	21	2359	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I	EML1_uc010tww.2_Missense_Mutation_p.V733I|EML1_uc001ygs.3_Missense_Mutation_p.V745I	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	745						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.V764I(2)|p.A763A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCAATGCCGTCTGTCGGGC	0.562000													36	99					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:153078545G>A	uc011dcy.2	+	9	1421	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	GRIA1_uc003lva.4_Missense_Mutation_p.R455H|GRIA1_uc003luy.4_Missense_Mutation_p.R455H|GRIA1_uc003luz.4_Missense_Mutation_p.R360H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R375H|GRIA1_uc011dcx.2_Missense_Mutation_p.R386H|GRIA1_uc011dcz.2_Missense_Mutation_p.R465H|GRIA1_uc010jia.1_Missense_Mutation_p.R435H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	455					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542000													33	75					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:129312807A>G	uc001qfc.4	+	2	616	c.566A>G	c.(565-567)aAg>aGg	p.K189R		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	189								p.K189R(2)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ATGAAATGGAAGAAAATGGTA	0.498000													7	125					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:176762740G>A	uc001gkz.3	+	19	6229	c.5065G>A	c.(5065-5067)Gtg>Atg	p.V1689M	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1689	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V1689M(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTGACCCCGTGATGCTACC	0.473000													4	133					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:141473639A>C	uc002tvj.1	-	36	6898	c.5926T>G	c.(5926-5928)Tta>Gta	p.L1976V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1976					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1976V(2)		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)		ACTTCAATTAAGTTGAAACCA	0.343000										TSP Lung(27;0.18)			92	216					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5768180	5768180	+	Splice_Site	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:5768180A>C	uc002mda.3	+	18	1621	c.1560_splice	c.e18-1	p.N520_splice	CATSPERD_uc010duj.1_Splice_Site_p.N178_splice	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	520						integral to membrane		p.K521Q(1)									TGCTTGCAGCAAAGTTTCCGC	0.537000													39	104					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:159992774C>G	uc003lym.1	-	25	4919	c.4072G>C	c.(4072-4074)Gtc>Ctc	p.V1358L	ATP10B_uc010jit.1_Missense_Mutation_p.V608L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1358					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V1358L(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCGGGGACAGGGGCAGGC	0.517000													58	234					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:111662626C>T	uc004bdm.4	-	18	2564	c.2044G>A	c.(2044-2046)Gtg>Atg	p.V682M	IKBKAP_uc004bdl.3_Missense_Mutation_p.V333M|IKBKAP_uc011lwc.2_Missense_Mutation_p.V568M|IKBKAP_uc010mtq.3_Missense_Mutation_p.V333M	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	682					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.V682M(2)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATGGGACACATGATTGCTG	0.458000													22	108					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893785	123893785	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123893785C>T	uc010sad.2	+	0	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(4)|p.D22E(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587000													18	416					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:72428496T>C	uc003dpe.3	-	1	211	c.211A>G	c.(211-213)Aag>Gag	p.K71E		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	81					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.K169R(2)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		ACTTTCTCCTTCTTCTCCTTT	0.408000													65	193					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909643	123909643	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123909643G>A	uc001pzq.1	-	0	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGGGCGTCCAGCCCTG	0.562000													12	129					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51102013	51102013	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51102013G>A	uc011bds.2	+	5	473	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	150						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.L150L(2)|p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGTGCGCCTGGACTGGGGTA	0.463000													26	123					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76446996	76446996	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:76446996G>A	uc001sxw.2	-	9	1317	c.905C>T	c.(904-906)gCc>gTc	p.A302V	NAP1L1_uc001sxz.2_Missense_Mutation_p.A233V|NAP1L1_uc010stz.1_Missense_Mutation_p.A119V|NAP1L1_uc001sxx.2_Missense_Mutation_p.A302V|NAP1L1_uc010sty.1_Missense_Mutation_p.A259V|NAP1L1_uc010sua.1_Missense_Mutation_p.A302V|NAP1L1_uc001syb.3_Missense_Mutation_p.A302V	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	302					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	p.A302V(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCAGGAGGGGCAAAAAAGTT	0.328000													5	197					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:225379456T>C	uc010fwy.1	-	3	483	c.430A>G	c.(430-432)Aac>Gac	p.N144D	CUL3_uc010zls.1_Missense_Mutation_p.N72D|CUL3_uc002vny.2_Missense_Mutation_p.N138D	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	138					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.N138D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGTAGACGTTCTCCACATTA	0.338000													27	79					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130189738	130189738	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:130189738G>A	uc010htj.1	+	38	7995	c.7501G>A	c.(7501-7503)Gaa>Aaa	p.E2501K	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.E540K|COL6A5_uc010htk.1_Missense_Mutation_p.E540K	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2501	Nonhelical region.				axon guidance|cell adhesion	collagen		p.E2501K(4)|p.E540K(2)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATCCCACCGAAGATATGAA	0.428000													10	39					0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118343971	118343971	+	Silent	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:118343971T>C	uc001pta.3	+	2	2120	c.2097T>C	c.(2095-2097)gcT>gcC	p.A699A	MLL_uc001ptb.3_Silent_p.A699A|MLL_uc001psz.1_Silent_p.A732A|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	699					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.A699A(3)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTCTGAGAGCTCCAAGATTTA	0.453000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								33	124					0	0	1	0	0
CDKL3	51265	broad.mit.edu	37	5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:133634385C>T	uc003kzf.4	-	12	1855	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	579						cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.C579Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCCCTCGCAATGGCCATC	0.348000													37	125					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100243476	100243476	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:100243476C>G	uc004ego.3	+	7	970	c.854C>G	c.(853-855)aCg>aGg	p.T285R	ARL13A_uc011mrf.2_Missense_Mutation_p.T285R|ARL13A_uc010nng.3_Intron	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	285							GTP binding			endometrium(1)|ovary(1)	2						CAGAATACTACGAAGCTTTGC	0.378000													3	9					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:60773250C>T	uc002sae.1	-	1	469	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	BCL11A_uc002sab.3_Missense_Mutation_p.V81M|BCL11A_uc002sac.3_Missense_Mutation_p.V81M|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.V81M|BCL11A_uc002saf.1_Missense_Mutation_p.V81M|BCL11A_uc010fcg.3_Missense_Mutation_p.V81M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	81	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V81M(4)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTATCCACAGCTTTTTCT	0.483000			T	IGH@	B-CLL								5	133					0	0	1	0	0
ZNF434	54925	broad.mit.edu	37	16	3440104	3440104	+	Silent	SNP	T	T	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr16:3440104T>A	uc002cux.4	-	4	913	c.654A>T	c.(652-654)gtA>gtT	p.V218V	ZNF434_uc010uwx.2_Intron|ZNF434_uc002cuy.4_Intron|ZNF434_uc002cuz.3_Silent_p.V7V|ZNF434_uc010uwy.1_Intron|ZNF434_uc010uwz.1_Silent_p.V218V|ZNF434_uc010uxa.1_Silent_p.V7V	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V7V(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACAGAGGGATACAGCTCTGT	0.582000													13	39					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:127790688C>A	uc004bpd.3	-	5	587	c.465G>T	c.(463-465)caG>caT	p.Q155H	SCAI_uc004bpe.3_Missense_Mutation_p.Q132H|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	132	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.Q155H(18)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338000													10	139					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7026	7026	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrM:7026G>A	uc011mfh.2	+	0	1126	c.125G>A	c.(124-126)aGc>aAc	p.S42N	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		ACTACGTTGTAGCTCACTTCC	0.448000													4	2					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155218031	155218031	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:155218031G>A	uc001fjm.3	-	10	2249	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	FAM189B_uc009wql.3_Missense_Mutation_p.A350V|FAM189B_uc001fjn.3_Missense_Mutation_p.A452V|FAM189B_uc001fjo.3_Missense_Mutation_p.A530V|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	548						integral to membrane	WW domain binding	p.A548V(2)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTGACCGGGCACGTAGCAA	0.627000													3	48					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248602	50248602	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:50248602C>T	uc002ppm.3	-	6	1055	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	348							protein binding	p.V348V(2)|p.A347A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCTTCCTGCACCGCCCCCT	0.706000													3	8					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101984G>A	uc011bds.2	+	5	444	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	141						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.E130K(1)|p.E141K(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453000													28	120					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													7	122					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A	rs4041777		TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000													14	44					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:11227612C>T	uc002mqk.4	+	11	1970	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LDLR_uc010xlk.2_Missense_Mutation_p.R595W|LDLR_uc010xll.2_Missense_Mutation_p.R554W|LDLR_uc021upc.1_Missense_Mutation_p.R474W|LDLR_uc010xln.2_Missense_Mutation_p.R468W|LDLR_uc010xlo.2_Missense_Mutation_p.R427W|LDLR_uc010xlm.2_Missense_Mutation_p.R448W|LDLR_uc021upd.1_Missense_Mutation_p.R332W	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	595					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.R595W(2)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGGGGGCAACCGGAAGACCAT	0.542000													73	342					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51101986	51101986	+	Silent	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101986G>A	uc011bds.2	+	5	446	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	141						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.E141E(2)|p.E130E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGCGGGAGGTTAAGCGGC	0.453000													27	122					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:241516387C>T	uc002vzi.3	+	9	1864	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_uc002vzj.3_Missense_Mutation_p.R39W	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R391W(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647000													4	111					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77427337	77427337	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:77427337C>T	uc004ajl.1	-	11	1559	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	TRPM6_uc004ajk.1_Missense_Mutation_p.E436K|TRPM6_uc022bib.1_Missense_Mutation_p.E436K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E441K|TRPM6_uc010mpd.1_Missense_Mutation_p.E441K|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	441					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E441K(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGCTTGTTCCAGGGCATCA	0.363000													51	91					0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000													4	57					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426940	111426940	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:111426940C>T	uc003dya.3	+	1	901	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	PLCXD2_uc003dxz.3_Missense_Mutation_p.R111C	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	111	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R111C(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGCTGGGATCCGCTACTTTGA	0.512000													31	147					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101876611	101876611	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:101876611A>G	uc001tid.3	+	4	411	c.252A>G	c.(250-252)caA>caG	p.Q84Q	SPIC_uc010svp.2_Silent_p.Q84Q|SPIC_uc009zua.3_5'UTR|SPIC_uc021rcq.1_5'UTR	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q84Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATATTCATCAATCTCTGCAGA	0.403000													131	332					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr17:26961608A>G	uc002hbu.3	-	15	3100	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	999						extracellular region		p.P999P(2)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493000													4	223					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725167	181725167	+	Silent	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:181725167C>T	uc009wxt.3	+	28	4260	c.4065C>T	c.(4063-4065)taC>taT	p.Y1355Y	CACNA1E_uc001gow.3_Silent_p.Y1355Y|CACNA1E_uc009wxs.3_Silent_p.Y1336Y|CACNA1E_uc001gox.1_Silent_p.Y581Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1355					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y1355Y(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTCCACTACGACAACATTA	0.493000													18	56					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345786	100345786	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr7:100345786G>T	uc003uwj.3	+	9	1215	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	ZAN_uc003uwk.3_Missense_Mutation_p.K350N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	350	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K350N(4)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTTTGGAAAGACCCCAGAGC	0.597000													12	59					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:113105824C>T	uc021qqp.1	+	14	2207	c.1835C>T	c.(1834-1836)gCg>gTg	p.A612V	NCAM1_uc001pnp.3_Missense_Mutation_p.A576V|NCAM1_uc021qqo.1_Missense_Mutation_p.A576V|NCAM1_uc001pnq.3_Missense_Mutation_p.A586V|NCAM1_uc001pnr.3_Missense_Mutation_p.A576V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	588	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.A587V(2)|p.A578V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587000													9	15					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25169937	25169937	+	RNA	SNP	A	A	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr13:25169937A>C	uc001upm.3	+	10		c.1184A>C			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Intron					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		AATCTTCCTAAATACTATGAC	0.264000													3	18					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:139189047T>C	uc003leu.1	+	1	227	c.22T>C	c.(22-24)Tct>Cct	p.S8P		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	8					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S8P(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627000													3	21					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:57077492G>A	uc001njr.3	-	4	3005	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_uc001njs.3_Missense_Mutation_p.A898V|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.A349V	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	898	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.A898V(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532000													6	414					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	-	-	rs2622736	byFrequency	TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	297	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57920425	57920425	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:57920425delG	uc001soj.1	+	6	1721	c.1497delG	c.(1495-1497)ctgfs	p.L499fs	MBD6_uc001sok.1_Frame_Shift_Del_p.L366fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	499	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCGAAGGACTGGGGATGGGGG	0.647													51	217	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	-	-			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:106993939_106993941delTAC	uc021ser.1	-	233		c.9313_9315delGTA								Parts of antibodies, mostly variable regions.																		TAGTATATGGTACTACTACTACT	0.502													7	547	---	---	---	---					
