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
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													6	187					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087907	9087907	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:9087907G>T	uc002mkp.3	-	0	4112	c.3908C>A	c.(3907-3909)tCt>tAt	p.S1303Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1303	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTCAGGTGAAGACCCAGAAGA	0.493000													5	82					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887040	25887040	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:25887040G>A	uc001isj.3	+	10	2545	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	GPR158_uc001isk.3_Missense_Mutation_p.E204K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	829						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACCAAACGGAAGAGTCCAG	0.463000													26	149					0	0	1	0	0
CST7	8530	broad.mit.edu	37	20	24937950	24937950	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:24937950G>C	uc002wtx.2	+	1	374	c.98G>C	c.(97-99)cGt>cCt	p.R33P		NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.	33					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTTAACTCACGTGTGAAGCCA	0.478000													8	137					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913641	57913641	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:57913641G>A	uc003jrp.3	+	1	293	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	66					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.D66N(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTGGGATCGATTTCAAAGT	0.408000													5	26					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729079	18729079	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:18729079C>T	uc002njy.4	+	5	866	c.779C>T	c.(778-780)tCc>tTc	p.S260F		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	260						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGTTGCATGTCCCGGTGGGTG	0.647000													3	13					0	0	1	0	0
RBM41	55285	broad.mit.edu	37	X	106358623	106358623	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chrX:106358623C>A	uc004emz.3	-	3	536	c.482G>T	c.(481-483)gGa>gTa	p.G161V	RBM41_uc004emy.2_Missense_Mutation_p.G161V	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	161							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACGATCAGCTCCCTGAAATAA	0.438000													14	28					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032509	12032509	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr17:12032509T>C	uc002gnj.3	+	8	1014	c.945T>C	c.(943-945)gaT>gaC	p.D315D	MAP2K4_uc002gnk.3_Silent_p.D326D|MAP2K4_uc010vvi.2_Silent_p.D197D|MAP2K4_uc010vvj.2_Silent_p.D187D	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	315	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTGTATTTGATCAACTAACAC	0.423000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								3	29					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264568	67264568	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr16:67264568A>G	uc002esl.3	-	17	2906	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L	FHOD1_uc010ced.3_Missense_Mutation_p.F739L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	932	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGTCCAGGAAGTGGGTGAGG	0.682000													19	109					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919107	8919107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:8919107T>A	uc002qzc.2	-	18	2715	c.2533A>T	c.(2533-2535)Aat>Tat	p.N845Y	KIDINS220_uc010yiv.1_Missense_Mutation_p.N611Y|KIDINS220_uc002qzd.2_Missense_Mutation_p.N803Y|KIDINS220_uc010yiw.1_Missense_Mutation_p.N846Y	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	845	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCACGACTATTAAGGAACACA	0.418000													9	88					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237644	132237644	+	Silent	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:132237644G>A	uc002tsu.4	+	3	571	c.378G>A	c.(376-378)gcG>gcA	p.A126A		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	126					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCTCAGGCGGATCTGTGCA	0.577000													4	57					0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605947	84605947	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:84605947C>T	uc004amn.3	+	3	609	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	188	Pro-rich.					integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AATACTGTCCCCTCGGCCTAA	0.557000													4	83					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21519263	21519263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr18:21519263C>T	uc002kuq.3	+	67	9025	c.8939C>T	c.(8938-8940)aCc>aTc	p.T2980I	LAMA3_uc002kur.3_Missense_Mutation_p.T2924I|LAMA3_uc002kus.4_Missense_Mutation_p.T1371I|LAMA3_uc002kut.4_Missense_Mutation_p.T1315I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2980					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCCCAAGACCCAGGCCAAT	0.537000													17	110					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075565	41075565	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:41075565G>A	uc003ayz.3	+	0	384	c.116G>A	c.(115-117)gGa>gAa	p.G39E	MCHR1_uc003aza.3_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	39					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGCGCTCCGGGACAAGGTGGC	0.692000													3	37					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849324	73849324	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:73849324A>C	uc003xzb.3	+	2	2322	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	578					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAATGGAAGAAGTGGTGTGTC	0.527000													6	49					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646682	127646682	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:127646682T>C	uc010hsr.3	+	1	1149	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	KBTBD12_uc003ejy.4_5'UTR|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.S382S	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	382										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTGGGCAGTATTCATAATG	0.368000													8	86					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419058	53419058	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr13:53419058C>T	uc001vhi.3	-	2	3054	c.2850G>A	c.(2848-2850)gcG>gcA	p.A950A	PCDH8_uc001vhj.3_Silent_p.A853A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	950					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCGGTGCACGCCCACAGTC	0.552000													6	36					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114623	120114623	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:120114623G>T	uc003yoo.3	+	3	426	c.329G>T	c.(328-330)gGa>gTa	p.G110V		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	110	Collagen-like.					collagen|cytoplasm	mannose binding	p.P109S(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGAATACCTGGAGAAAAAGGC	0.289000													10	23					0	0	1	0	0
CGB8	94115	broad.mit.edu	37	19	49558205	49558205	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:49558205G>A	uc002pmd.3	-	1	1296	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.R26W	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	26					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CACCGTGGCCGAAGCATCTCC	0.652000													19	57					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509216	26509216	+	Silent	SNP	C	C	T	rs141533174	byFrequency	TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:26509216C>T	uc003nif.4	+	6	1452	c.1395C>T	c.(1393-1395)agC>agT	p.S465S		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	465	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TATGGTCTAGCGGTAAAAAGC	0.493000													4	62					0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7986937	7986937	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:7986937C>T	uc003mxx.4	+	0	603	c.168C>T	c.(166-168)gtC>gtT	p.V56V	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		ATCGAGGTGTCGATTCCTCAG	0.517000													3	31					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101766716	101766716	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr12:101766716T>C	uc001tia.1	+	51	7009	c.6853T>C	c.(6853-6855)Ttg>Ctg	p.L2285L		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2285					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGACCAAACTTGGAATTCAT	0.408000													4	33					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561808	135561808	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:135561808T>G	uc003lbn.2	-	8	2398	c.2176A>C	c.(2176-2178)Aag>Cag	p.K726Q	TRPC7_uc010jef.2_Missense_Mutation_p.K662Q|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.K277Q|TRPC7_uc010jeh.2_Missense_Mutation_p.K665Q|TRPC7_uc010jei.2_Missense_Mutation_p.K610Q	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	726					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCACATCTTGATTCTCATT	0.378000													3	8					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93999536	93999536	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:93999536C>A	uc001khw.2	-	1	776	c.572G>T	c.(571-573)cGc>cTc	p.R191L	CPEB3_uc001khu.2_Missense_Mutation_p.R191L|CPEB3_uc001khv.2_Missense_Mutation_p.R191L|CPEB3_uc010qnn.2_Missense_Mutation_p.R191L	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	191	Ala-rich.|Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCGGGTGAgcggcgctgctg	0.771000													2	1					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83963441	83963441	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:83963441G>A	uc003pjy.3	-	6	986	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	ME1_uc011dzb.2_Missense_Mutation_p.L166F|ME1_uc011dzc.2_Missense_Mutation_p.L75F	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	241					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AACTGAATAAGGCAATTCATG	0.308000													4	35					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208992	121208992	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:121208992C>G	uc003eee.4	-	15	2915	c.2786G>C	c.(2785-2787)aGt>aCt	p.S929T	POLQ_uc003eed.3_Missense_Mutation_p.S101T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	929					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity	p.L928L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTATAAGAACTCTTAGTTTG	0.313000								DNA polymerases (catalytic subunits)					3	29					0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90755415	90755415	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr14:90755415C>T	uc001xyi.2	-	10	2537	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	C14orf102_uc010atp.1_Silent_p.K273K|C14orf102_uc001xyj.2_Silent_p.K537K	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	768							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TAAGGAGATTCTTGGCTAGTT	0.438000													8	143					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441254	99441254	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:99441254C>T	uc003yin.3	+	1	1397	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	KCNS2_uc022azb.1_Silent_p.T349T	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	349						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T349T(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGGCCTACACCATTGAAAAGG	0.582000													4	47					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615615	50615615	+	Silent	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:50615615G>T	uc003bjn.4	+	1	474	c.474G>T	c.(472-474)ctG>ctT	p.L158L	PANX2_uc003bjp.4_Silent_p.L24L|PANX2_uc003bjo.4_Silent_p.L158L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	158					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACTTCCTGCTGCAGGAGATCG	0.677000													4	17					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44576000	44576000	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:44576000C>T	uc002xqs.3	+	15	2120	c.1806C>T	c.(1804-1806)agC>agT	p.S602S	PCIF1_uc002xqt.3_Silent_p.S182S	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	602						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAGCAGAGCCGCTTCAAAC	0.617000													3	30					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874403	36874403	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:36874403G>A	uc003cgj.3	-	20	6787	c.6539C>T	c.(6538-6540)tCg>tTg	p.S2180L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTTCATTTTCGACTGAACTAA	0.383000													4	13					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													4	56					0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42742890	42742890	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr15:42742890G>A	uc001zpw.3	-	1	1838	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.S287F|ZFP106_uc001zpy.1_Missense_Mutation_p.S527F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	504						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		ACGCAGTTTGGATATGTAAGG	0.358000													17	84					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102269968	102269968	+	Silent	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr1:102269968G>A	uc001duf.2	-	5	1334	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	OLFM3_uc001dug.2_Silent_p.S401S|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.S326S|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	421	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGGTTTTGGTGGAATAGGAAT	0.443000													8	117					0	0	1	0	0
XPA	7507	broad.mit.edu	37	9	100459525	100459525	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:100459525G>T	uc004axr.4	-	0	167	c.50C>A	c.(49-51)cCc>cAc	p.P17H	XPA_uc004axs.4_Non-coding_Transcript	NM_000380	NP_000371	P23025	XPA_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA.	17	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAGCTCCGCGGGTTGCTCTAA	0.731000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	26					0	0	1	0	0
FITM2	128486	broad.mit.edu	37	20	42935657	42935657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:42935657delC	uc002xlr.1	-	1	498	c.397delG	c.(397-399)gaafs	p.E133fs		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.	133					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CTCTGGTGTTCCTTTCTGACC	0.582													8	62	---	---	---	---					
