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
PPP1R8	5511	broad.mit.edu	37	1	28159280	28159280	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:28159280C>A	ENST00000311772.5	+	2	128	c.70C>A	c.(70-72)Cct>Act	p.P24T	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	24	Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTAAGCCCCCTCCCGGTTT	0.378													4	52	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755264	36755264	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:36755264G>T	ENST00000354618.5	+	5	1868	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	THRAP3_ENST00000469141.2_Silent_p.L548L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	548					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGACAAGCTGGGAGCGAAAG	0.498			T	USP6	aneurysmal bone cysts								5	141	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:110882203G>A	ENST00000369784.3	+	1	1076	c.176G>A	c.(175-177)cGt>cAt	p.R59H	RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	59					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAACGCTCCCGTGGTGGTGAG	0.647			T	MKL1	acute megakaryocytic leukemia								4	59	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156819189	156819189	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:156819189C>A	ENST00000368195.3	-	6	1689	c.1293G>T	c.(1291-1293)gcG>gcT	p.A431A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTGAGCCCCGCGGCCACCC	0.622													4	155	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158299162	158299162	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:158299162C>A	ENST00000368168.3	-	4	991	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552													4	97	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:160769618T>C	ENST00000368037.5	+	2	314	c.200T>C	c.(199-201)cTa>cCa	p.L67P	LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000263285.6_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTCCCCCTAAACATCTCA	0.498													3	76	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96533589	96533589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr3:96533589C>A	ENST00000389672.5	+	1	160	c.122C>A	c.(121-123)tCg>tAg	p.S41*	EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCGGGACCTCGCGCAGGGGG	0.716													3	36	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206902	148206902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr5:148206902C>A	ENST00000305988.4	+	1	747	c.508C>A	c.(508-510)Cag>Aag	p.Q170K		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	170					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CTTGCCCATTCAGATGCACTG	0.527													6	162	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88211351	88211351	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:88211351G>T	ENST00000357081.3	-	18	2493	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000376083.3_Silent_p.L743L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	783					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCGAATACATGAGTGGTTGCA	0.308													4	39	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073491	135073491	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:135073491C>A	ENST00000393229.3	+	3	1128	c.352C>A	c.(352-354)Ccg>Acg	p.P118T	NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T|NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	118	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTACCCCAGCCCGCTGGAAGC	0.647													4	78	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68526133	68526133	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:68526133C>A	ENST00000433211.2	-	9	1344	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	CTNNA3_ENST00000373744.4_Silent_p.L390L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGTCGTATCCAGGAAAGAGT	0.398													4	107	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91404822	91404822	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:91404822C>A	ENST00000307534.4	-	1	393	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	80					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GCCGACTCCCCCACCTCCTCT	0.771													4	46	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247627	247627	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr12:247627C>A	ENST00000538872.1	+	4	1216	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A366A			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	366					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCTGGCGGCCGAGAAAGCGC	0.692													3	18	---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24897522	24897522	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr14:24897522C>A	ENST00000267406.6	-	2	860	c.390G>T	c.(388-390)gtG>gtT	p.V130V	CBLN3_ENST00000555436.1_Silent_p.V79V	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	130	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACACCTTCACCACATGGAACC	0.652													6	209	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42740783	42740783	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr15:42740783G>T	ENST00000263805.4	-	3	2879	c.2553C>A	c.(2551-2553)tcC>tcA	p.S851S	ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		CCAAGCCAGGGGACGAGGAAA	0.488													4	53	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66344377	66344377	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr18:66344377C>A	ENST00000299608.2	-	16	1474	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	386					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TGATGACACCCAGTGGCAGGC	0.413													4	96	---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19616251	19616251	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:19616251C>A	ENST00000404158.1	+	14	2291	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	624					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GATCCCACCCCGCTCCATCCC	0.667													4	134	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58551895	58551895	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:58551895C>A	ENST00000282326.1	+	4	695	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	150					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		TCCAAGGTCCCAGAAAGAACC	0.627													5	125	---	---	---	---
CYP2D7	1564	broad.mit.edu	37	22	42540342	42540342	+	RNA	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr22:42540342C>A	ENST00000433992.1	-	0	234				CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						TTGCCCAGCCCGGGCAGTGGC	0.642													3	20	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48650528	48650528	+	Silent	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chrX:48650528T>C	ENST00000376670.3	+	3	609	c.498T>C	c.(496-498)ccT>ccC	p.P166P	GATA1_ENST00000376665.3_Silent_p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	166					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ATGGGGGCCCTGACTTTTCCA	0.582			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								3	50	---	---	---	---
