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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														17			4		0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102269842	102269842	+	Silent	SNP	C	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:102269842C>T	uc001duf.2	-	5	1460	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	OLFM3_uc001dug.2_Silent_p.L443L|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.L368L|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	463	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)		TGACATTGAACAGCACCTGGT	0.408000														157			4		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324408	9324408	+	Missense_Mutation	SNP	T	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:9324408T>G	uc001apt.3	+	4	2129	c.1856T>G	c.(1855-1857)gTt>gGt	p.V619G		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	619	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CTGTGGCTGGTTGACGAGCGC	0.677000														53			8		0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33408896	33408896	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:33408896T>C	uc003xjo.1	-	2	596	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	65						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTGTGCCTGGTTCCGCAGTTT	0.493000														87			4		0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37785427	37785427	+	Missense_Mutation	SNP	C	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:37785427C>A	uc003chd.3	+	21	2388	c.2335C>A	c.(2335-2337)Cca>Aca	p.P779T		NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	779					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATCATGTCTCCAACCTCCTT	0.483000														113			17		1.00905e-13	1.08871e-13	1	1	0
CFTR	1080	broad.mit.edu	37	7	117188705	117188705	+	Missense_Mutation	SNP	A	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:117188705A>T	uc003vjd.3	+	9	1352	c.1220A>T	c.(1219-1221)gAa>gTa	p.E407V	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	407					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGATTTGGGGAATTATTTGAG	0.328000									Cystic Fibrosis					243			6		0	0	1	0	0
NNAT	4826	broad.mit.edu	37	20	36149782	36149782	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:36149782T>C	uc002xhd.3	+	0	176	c.49T>C	c.(49-51)Tac>Cac	p.Y17H	BLCAP_uc021wde.1_Intron|BLCAP_uc021wdf.1_Intron|BLCAP_uc002xhb.3_Intron|BLCAP_uc002xha.3_5'UTR|BLCAP_uc002xhc.3_Intron|BLCAP_uc021wdg.1_5'Flank|NNAT_uc002xhe.3_Missense_Mutation_p.Y17H	NM_005386	NP_005377	Q16517	NNAT_HUMAN	Homo sapiens neuronatin (NNAT), transcript variant 1, mRNA.	17					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				CATCGGCTGGTACATCTTCCG	0.617000														77			3		0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973907	41973907	+	Missense_Mutation	SNP	C	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:41973907C>T	uc003bal.2	-	6	633	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	191					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCGGGGAAGACGTCAAAGCTG	0.572000														20			51		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	956357	956357	+	Missense_Mutation	SNP	C	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr4:956357C>T	uc003gbw.3	-	17	2154	c.2080G>A	c.(2080-2082)Ggc>Agc	p.G694S	DGKQ_uc010ibn.3_Missense_Mutation_p.G681S	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	694	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGTCCTCGCCGCTGTAGCCC	0.662000														41			32		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77208855	77208855	+	Missense_Mutation	SNP	G	A	A	rs139150912		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr18:77208855G>A	uc010xfg.2	+	3	1913	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NFATC1_uc002lnc.1_Missense_Mutation_p.R487H|NFATC1_uc010xff.1_Missense_Mutation_p.R487H|NFATC1_uc002lnd.3_Missense_Mutation_p.R487H|NFATC1_uc002lne.3_Missense_Mutation_p.R15H|NFATC1_uc010xfh.2_Missense_Mutation_p.R487H|NFATC1_uc010xfi.1_Missense_Mutation_p.R474H|NFATC1_uc010xfj.2_Missense_Mutation_p.R15H|NFATC1_uc002lnf.3_Missense_Mutation_p.R474H|NFATC1_uc002lng.3_Missense_Mutation_p.R474H|NFATC1_uc010xfk.2_Missense_Mutation_p.R474H	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	487	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCCTGCTGCGCCCGCACGCC	0.602000														44			31		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245050	59245050	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:59245050A>G	uc001nnz.1	+	0	148	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCACTGTTACCTGTGAATC	0.448000														194			4		0	0	1	0	0
EFHA2	286097	broad.mit.edu	37	8	16935352	16935352	+	Nonsense_Mutation	SNP	C	T	T	rs150021056		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:16935352C>T	uc003wxd.2	+	3	670	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	210						integral to membrane	calcium ion binding	p.R210*(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GAAGCTATTTCGAAATCTTAA	0.303000														19			14		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224826	127224826	+	Missense_Mutation	SNP	C	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:127224826C>A	uc003vma.3	-	0	829	c.411G>T	c.(409-411)gaG>gaT	p.E137D		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	137						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TAACGCCACTCTCGGACCAAC	0.577000														86			67		2.08929e-35	2.44745e-35	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75875301	75875301	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr6:75875301T>C	uc021zbv.1	-	12	2940	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.T969A|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	969	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E968D(1)|p.E968K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGTATTTGGTCTCTGGCTGC	0.413000														84			4		0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302156	123302156	+	Missense_Mutation	SNP	C	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:123302156C>A	uc003vky.2	+	1	673	c.516C>A	c.(514-516)aaC>aaA	p.N172K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	172						cytoskeleton	actin binding|tropomyosin binding										AAATAGAGAACATAAATTTGA	0.393000														51			50		9.45407e-15	1.04761e-14	1	1	0
WNK3	65267	broad.mit.edu	37	X	54276507	54276507	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:54276507G>A	uc004dtc.2	-	15	3072	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	WNK3_uc004dtd.2_Missense_Mutation_p.T878M	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	878					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTTTCTTATCGTCTGATTGAT	0.448000														103			8		0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15096731	15096731	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:15096731A>G	uc001mlx.1	+	2	284	c.211A>G	c.(211-213)Aca>Gca	p.T71A	CALCB_uc009ygr.1_Missense_Mutation_p.T71A	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	71					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGCAGGAGACACAGGGCTC	0.617000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		162			5		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103941508	103941508	+	Silent	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr14:103941508G>A	uc001ymz.4	+	12	2109	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	MARK3_uc001ymx.4_Silent_p.A481A|MARK3_uc001ymw.4_Silent_p.A481A|MARK3_uc001yna.4_Silent_p.A465A|MARK3_uc001ymy.4_Silent_p.A402A|MARK3_uc010awp.3_Silent_p.A504A|MARK3_uc010tyb.2_Silent_p.A276A|MARK3_uc010awq.3_Silent_p.A11A	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	481							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CTAATAAGGCGGATATTCCTG	0.483000														141			4		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506383	11506383	+	Silent	SNP	C	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:11506383C>T	uc001qzw.1	-	3	688	c.651G>A	c.(649-651)aaG>aaA	p.K217K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	279	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).	PG -> R (in Ref. 4; AAA36502).		extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.602000														41			3		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207896964	207896964	+	Splice_Site	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr1:207896964T>C	uc001hga.4	+	12	1764	c.1643_splice	c.e12-1	p.G548_splice	CR1L_uc001hgb.1_Splice_Site	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	548						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTTTTAGGTTCACATGATG	0.353000														191			5		0	0	1	0	0
ZNF837	116412	broad.mit.edu	37	19	58879856	58879856	+	Missense_Mutation	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr19:58879856G>A	uc002qsm.3	-	2	1167	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	ZNF837_uc002qsl.4_Missense_Mutation_p.R282C|ZNF837_uc021vcx.1_Missense_Mutation_p.R282C	NM_001129730	NP_612475	Q96EG3	ZN837_HUMAN	Homo sapiens zinc finger protein 837 (ZNF837), transcript variant 1, mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|skin(1)	2						CTGGAGGTGCGCGTGAAGGCC	0.697000														4			7		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51183206	51183206	+	Missense_Mutation	SNP	G	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr22:51183206G>T	uc003bnh.4	+	4	849	c.837G>T	c.(835-837)tgG>tgT	p.W279C		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	279	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCACCTGGCCCTATCTGA	0.597000														89			5		1.23904e-05	1.23904e-05	1	1	0
ZP2	7783	broad.mit.edu	37	16	21218242	21218242	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr16:21218242A>G	uc010bwn.1	-	4	599	c.517T>C	c.(517-519)Tat>Cat	p.Y173H	ZP2_uc002dii.2_Missense_Mutation_p.Y134H|ZP2_uc010bwo.3_Missense_Mutation_p.Y173H	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	134		Cleavage (By similarity).			binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AAGAACTGATACATGACAGCT	0.488000														118			4		0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69498391	69498391	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:69498391T>C	uc004dyb.2	+	11	873	c.805T>C	c.(805-807)Ttt>Ctt	p.F269L	ARR3_uc004dya.3_Missense_Mutation_p.F269L	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	269					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTCCCAGAGCTTTGCAGTAAC	0.493000														138			4		0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034679	49034679	+	Missense_Mutation	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:49034679A>G	uc004dmy.1	-	5	736	c.710T>C	c.(709-711)gTc>gCc	p.V237A	PRICKLE3_uc011mmv.1_Missense_Mutation_p.V169A|PRICKLE3_uc011mmw.1_Missense_Mutation_p.V156A|PRICKLE3_uc011mmx.1_Missense_Mutation_p.V199A|PRICKLE3_uc011mmy.1_Missense_Mutation_p.V224A	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	237	LIM zinc-binding 1.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CCCGCAGTAGACCTTGCCAAC	0.627000														91			4		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47084094	47084094	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:47084094G>A	uc003cqv.3	-	17	7482	c.7396C>T	c.(7396-7398)Cga>Tga	p.R2466*	SETD2_uc003cqs.3_Nonsense_Mutation_p.R2399*|SETD2_uc003cqr.3_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2399	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1896*(2)|p.R2399*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGATCTCGAGCTGTCTTC	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma									92			28		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584474	30584474	+	Silent	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:30584474G>A	uc002wxe.3	+	2	1128	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	318						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCTTCGCGCTCTTCGCCA	0.632000														63			52		0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														93			6		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	A	A	rs138033708		TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:233244614G>A	uc002vsq.3	+	4	790	c.625G>A	c.(625-627)Gct>Act	p.A209T		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	209						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682000														137			7		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833188	11833188	+	Silent	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:11833188T>C	uc002gne.3	+	62	11951	c.11883T>C	c.(11881-11883)atT>atC	p.I3961I	DNAH9_uc010coo.3_Intron|DNAH9_uc002gnf.3_Silent_p.I273I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3961	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTAGAACATTCACCTGGTGG	0.557000														12			22		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324616	7324616	+	Silent	SNP	G	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr11:7324616G>A	uc001mfe.3	+	1	729	c.492G>A	c.(490-492)tcG>tcA	p.S164S	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	164						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAACCTCGTCGGCCCGGTCAG	0.587000														14			11		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816430	80816430	+	Splice_Site	SNP	C	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:80816430C>A	uc010ysh.2	+	14	2013	c.2008_splice	c.e14-1	p.A670_splice	CTNNA2_uc010yse.2_Splice_Site_p.A670_splice|CTNNA2_uc010ysf.2_Splice_Site_p.A670_splice|CTNNA2_uc010ysg.2_Splice_Site_p.A670_splice|CTNNA2_uc010ysi.2_Splice_Site_p.A302_splice|CTNNA2_uc010ysj.2_5'UTR	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	670					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCACGCAGGCCATCATGGCG	0.517000														64			8		2.62144e-13	2.75587e-13	1	1	0
TLR7	51284	broad.mit.edu	37	X	12904430	12904430	+	Missense_Mutation	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chrX:12904430T>C	uc004cvc.3	+	2	942	c.803T>C	c.(802-804)tTt>tCt	p.F268S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	268					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATGCCCCATTTCCTTGTGCG	0.368000														105			4		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63401909	63401909	+	Silent	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:63401909A>G	uc002sch.3	-	14	2436	c.1974T>C	c.(1972-1974)tcT>tcC	p.S658S	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Silent_p.S499S|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Silent_p.S466S	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	658					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GAGGTGCTAAAGACAGGCCAA	0.408000														99			4		0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025365	207025365	+	Missense_Mutation	SNP	C	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:207025365C>T	uc002vbg.1	+	2	246	c.134C>T	c.(133-135)cCg>cTg	p.P45L	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.P45L|EEF1B2_uc002vbh.1_Missense_Mutation_p.P45L|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TCCAGCCCACCGCCTGCCGAC	0.453000														103			3		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126161	37126161	+	Splice_Site	SNP	T	C	C			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr20:37126161T>C	uc002xiw.3	+	4	810	c.553_splice	c.e4+2	p.G185_splice	RALGAPB_uc010zvz.1_Splice_Site_p.G185_splice|RALGAPB_uc002xix.3_Splice_Site_p.G185_splice|RALGAPB_uc002xiy.1_Splice_Site_p.G185_splice|RALGAPB_uc002xiz.3_Splice_Site	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	185					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGTTCAAGGTTTGTTTATTT	0.393000														104			4		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182631695	182631695	+	Missense_Mutation	SNP	G	T	T			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr3:182631695G>T	uc003flb.3	+	28	3622	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F	ATP11B_uc003flc.3_Missense_Mutation_p.C706F|ATP11B_uc010hxg.3_Non-coding_Transcript|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	1122					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCCATGTGCTGTTTCCCGGAA	0.453000														81			31		2.47987e-07	2.54187e-07	1	1	0
FAM138B	654412	broad.mit.edu	37	2	114336333	114336333	+	RNA	SNP	A	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr2:114336333A>G	uc002tjz.3	+	2		c.1034A>G								Homo sapiens family with sequence similarity 138, member B (FAM138B), non-coding RNA.																		tgatggcagaaccatagatgg	0.478000														11			3		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51768854	51768854	+	Missense_Mutation	SNP	C	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:51768854C>A	uc010ufy.2	-	26	7121	c.6896G>T	c.(6895-6897)cGt>cTt	p.R2299L	DMXL2_uc002abd.3_Missense_Mutation_p.R369L|DMXL2_uc002abf.3_Missense_Mutation_p.R2298L|DMXL2_uc010bfa.3_Missense_Mutation_p.R1662L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2298						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAGTCTTCTACGATCACTTAA	0.353000														82			42		2.81731e-22	3.2086e-22	1	1	0
AATK	9625	broad.mit.edu	37	17	79102327	79102327	+	Silent	SNP	G	A	A	rs56384363	by1000genomes	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:79102327G>A	uc010dia.3	-	3	437	c.357C>T	c.(355-357)gaC>gaT	p.D119D	AATK_uc021ueu.1_Silent_p.D16D|MIR338_uc010wuj.2_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	119						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCGGCCCACGTCTGTGGACT	0.677000														46			3		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921471	78921471	+	Silent	SNP	G	A	A	rs142694602	byFrequency	TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:78921471G>A	uc002bed.1	-	4	1288	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.P210P	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	392					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.N391T(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGCAGAGGCGGGGTTCACAA	0.627000														85			5		0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94936601	94936601	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr5:94936601delC	uc003kld.3	+	6	1305	c.1147delC	c.(1147-1149)ccgfs	p.P383fs	ARSK_uc010jbg.3_Frame_Shift_Del_p.P224fs|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	383						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCTTTGTTGCCGTTATCATC	0.358													---	21	---	---	50	---					
SLC4A2	6522	broad.mit.edu	37	7	150772848	150772851	+	Frame_Shift_Del	DEL	ACTT	-	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr7:150772848_150772851delACTT	uc022apz.1	+	20	4497_4500	c.3457_3460delACTT	c.(3457-3462)acttacfs	p.T1153fs	SLC4A2_uc003wit.4_Frame_Shift_Del_p.T1153fs|SLC4A2_uc011kve.2_Frame_Shift_Del_p.T1144fs|SLC4A2_uc003wiu.4_Frame_Shift_Del_p.T1139fs|AK296065_uc011kvf.2_Intron	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	1153	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGATGTCACTTACGTCAAGAA	0.588													---	51	---	---	25	---					
FAM82B	51115	broad.mit.edu	37	8	87487151	87487154	+	Frame_Shift_Del	DEL	AAGT	-	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr8:87487151_87487154delAAGT	uc003ydu.3	-	8	949_952	c.789_792delACTT	c.(787-792)ttacttfs	p.L263fs	FAM82B_uc011lfz.2_Intron|FAM82B_uc011lga.2_Frame_Shift_Del_p.L233fs	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	263						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTCCTAAAAGAAGTAAGTTTTTGC	0.368													---	113	---	---	68	---					
HNF1A	6927	broad.mit.edu	37	12	121431369	121431370	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr12:121431369_121431370insG	uc001tzg.3	+	2	596_597	c.573_574insG	c.(571-576)ggtgatfs	p.G191fs	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Frame_Shift_Ins_p.G191fs|HNF1A_uc001tzf.3_Frame_Shift_Ins_p.G191fs|HNF1A_uc010szn.2_Frame_Shift_Ins_p.G191fs|HNF1A_uc021rfa.1_Frame_Shift_Ins_p.G191fs|HNF1A_uc021rfb.1_Frame_Shift_Ins_p.G63fs|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	191			G -> D (in late-onset NIDDM).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.G191fs*26(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCCCACAGGTGATGAGCTACC	0.589									Hepatic Adenoma, Familial Clustering of				---	56	---	---	22	---					
SQRDL	58472	broad.mit.edu	37	15	45951304	45951305	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr15:45951304_45951305insA	uc001zvu.3	+	2	376_377	c.183_184insA	c.(181-186)cgcatgfs	p.R61fs	SQRDL_uc001zvv.3_Frame_Shift_Ins_p.R61fs	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	61							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TGGCTGCCCGCATGAAGAGGAA	0.609													---	156	---	---	38	---					
VMP1	81671	broad.mit.edu	37	17	57895131	57895131	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KM-8438-01A-11D-2310-10	TCGA-KM-8438-10A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	148536ce-ee2a-4952-a19d-10d6f44146b9	503f8648-a261-4fad-9062-769d85f140df	g.chr17:57895131delT	uc002ixu.4	+	9	1244	c.971delT	c.(970-972)attfs	p.I324fs	VMP1_uc010wog.2_Frame_Shift_Del_p.I132fs|VMP1_uc010woh.2_Frame_Shift_Del_p.I268fs|VMP1_uc010woi.2_Frame_Shift_Del_p.I227fs|VMP1_uc010woj.2_Frame_Shift_Del_p.I190fs	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	324					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GTGGCTTTCATTGGGTAAGTA	0.274													---	142	---	---	17	---					
