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
HECW1	23072	broad.mit.edu	37	7	43519234	43519234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:43519234G>C	uc003tid.1	+	16	3730	c.3125G>C	c.(3124-3126)cGa>cCa	p.R1042P	HECW1_uc011kbi.1_Missense_Mutation_p.R1008P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1042	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAACAGTCGAGCTACCACT	0.493000														302			4		0	0	0.014758	0	0
ITGAE	3682	broad.mit.edu	37	17	3659152	3659152	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:3659152A>T	uc002fwo.4	-	10	1310	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	404					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAAGCCAATCTGTGCCAG	0.592000														12			3		0	0	0.009096	0	0
FGFR3	2261	broad.mit.edu	37	4	1803584	1803584	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:1803584C>A	uc003gdr.3	+	6	1018	c.762C>A	c.(760-762)atC>atA	p.I254I	FGFR3_uc003gdu.2_Silent_p.I254I|FGFR3_uc003gds.3_Silent_p.I254I|FGFR3_uc003gdq.3_Silent_p.I254I|FGFR3_uc010icb.1_Silent_p.I96I|FGFR3_uc003gdt.1_Silent_p.I96I	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	254	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACCGGCCCATCCTGCAGGCGG	0.731000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					14			10		4.72057e-08	5.41869e-08	0.021523	1	0
MS4A15	219995	broad.mit.edu	37	11	60540926	60540926	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:60540926T>A	uc009ynf.1	+	4	687	c.467T>A	c.(466-468)aTt>aAt	p.I156N	MS4A15_uc001npx.2_Missense_Mutation_p.I63N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.I115N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	156						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGGACAGCCATTCTGCTCATG	0.572000														22			27		0	0	0.019004	0	0
EFHB	151651	broad.mit.edu	37	3	19925989	19925989	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:19925989G>C	uc003cbl.4	-	10	2248	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	EFHB_uc003cbm.3_Silent_p.L554L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	684					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAAGTGTCCGGAGAGTCTTTT	0.393000														90			64		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39910503	39910503	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:39910503G>C	uc021olw.1	+	44	14930	c.14930G>C	c.(14929-14931)aGa>aCa	p.R4977T	MACF1_uc021ols.1_Missense_Mutation_p.R4472T|MACF1_uc021olt.1_Missense_Mutation_p.R4475T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6542					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAAGAAAGAAAGGTACAG	0.418000														32			33		0	0	0.015359	0	0
OBSL1	23363	broad.mit.edu	37	2	220420911	220420911	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:220420911G>A	uc010fwk.3	-	13	4754	c.4440C>T	c.(4438-4440)gcC>gcT	p.A1480A	OBSL1_uc002vmh.1_Silent_p.A379A|OBSL1_uc010zli.1_Silent_p.A287A|OBSL1_uc010fwl.2_Silent_p.A1480A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1480	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCAGCGCACGGCCCCCGCTG	0.657000														13			4		0	0	0.021553	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:78211648A>G	uc010bky.2	-	10	883	c.119T>C	c.(118-120)cTa>cCa	p.L40P						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CGCCAGGGATAGGGGCTCAGC	0.522000														96			4		0	0	0.014758	0	0
APBA2	321	broad.mit.edu	37	15	29368274	29368274	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:29368274C>A	uc001zck.3	+	4	1253	c.1049C>A	c.(1048-1050)tCa>tAa	p.S350*	APBA2_uc010azj.2_Nonsense_Mutation_p.S350*|APBA2_uc010uat.2_Nonsense_Mutation_p.S350*|APBA2_uc001zcl.3_Nonsense_Mutation_p.S350*|APBA2_uc001zcm.1_Nonsense_Mutation_p.S54*	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	350					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAGGTGGCATCATTTCCAAGT	0.373000														322			9		0.00185496	0.00202925	0.016723	1	0
LRRN2	10446	broad.mit.edu	37	1	204587907	204587907	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:204587907C>T	uc021phy.1	-	0	1214	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R405H|LRRN2_uc001hbf.1_Missense_Mutation_p.R405H|LRRN2_uc009xbf.1_Missense_Mutation_p.R405H|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	405	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACCGGGAGGCGCTGGAGGTC	0.662000														78			7		0	0	0.008291	0	0
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:128363345C>T	uc003vno.1	+	3	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_uc010llo.1_Missense_Mutation_p.A162V|FAM71F1_uc011koq.1_Missense_Mutation_p.A153V|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.A162V|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.A261V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	261								p.A261V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502000														233			5		0	0	0.021553	0	0
KRT13	3860	broad.mit.edu	37	17	39659037	39659037	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:39659037T>A	uc002hwu.1	-	4	988	c.925A>T	c.(925-927)Acc>Tcc	p.T309S	KRT13_uc002hwv.1_Missense_Mutation_p.T309S|KRT13_uc010wfr.2_Missense_Mutation_p.T202S|KRT13_uc010cxo.3_Missense_Mutation_p.T309S|KRT13_uc021txk.1_Missense_Mutation_p.T202S	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	309	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGTGTTGGTAGACACCTCC	0.577000														254			212		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725009	140725009	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:140725009C>T	uc003ljm.2	+	0	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S470F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTCTCA	0.547000														126			150		0	0	0.014410	0	0
STARD10	10809	broad.mit.edu	37	11	72470333	72470333	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:72470333C>G	uc001osy.3	-	2	485	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.E101Q|STARD10_uc001ota.3_Missense_Mutation_p.E55Q|STARD10_uc001otb.3_Missense_Mutation_p.E101Q	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	101	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCAAAAGTCTCAATGACGTTG	0.562000														70			47		0	0	0.014410	0	0
PICK1	9463	broad.mit.edu	37	22	38470965	38470965	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:38470965C>G	uc003auq.3	+	12	1464	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	PICK1_uc003aur.3_Missense_Mutation_p.F358L|PICK1_uc003aus.3_Missense_Mutation_p.F358L|PICK1_uc003aut.3_Missense_Mutation_p.F358L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	358					DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGACGTCTTCCCCATCGAGG	0.607000														38			23		0	0	0.024334	0	0
MLL2	8085	broad.mit.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49426526G>A	uc001rta.4	-	38	11962	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3718*(1)|p.G3988fs*20(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTTGTTGCTGAGGAGACAGT	0.532000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			16		0	0	0.024245	0	0
MB	4151	broad.mit.edu	37	22	36013290	36013290	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:36013290G>A	uc003anz.3	-	0	95	c.15C>T	c.(13-15)gaC>gaT	p.D5D	MB_uc003aoa.3_Silent_p.D5D|MB_uc003aob.3_Silent_p.D5D	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	5							heme binding|oxygen transporter activity			lung(1)	1						GCCATTCCCCGTCGCTGAGCC	0.577000														137			4		0	0	0.001984	0	0
TEX2	55852	broad.mit.edu	37	17	62238165	62238165	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:62238165C>G	uc002jed.3	-	7	2972	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q	TEX2_uc002jec.3_Missense_Mutation_p.E934Q|TEX2_uc002jee.3_Missense_Mutation_p.E934Q	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTTACCCTTCTTTGCCAATT	0.463000														239			577		0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542000														37			23		0	0	0.014410	0	0
VLDLR	7436	broad.mit.edu	37	9	2651933	2651933	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:2651933G>A	uc003zhk.1	+	16	2792	c.2395G>A	c.(2395-2397)Gca>Aca	p.A799T	VLDLR_uc003zhl.1_Missense_Mutation_p.A771T|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	799					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.A799T(2)|p.A798A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTTCTGCCGCATGGGCCAT	0.433000														73			32		0	0	0.015359	0	0
VWCE	220001	broad.mit.edu	37	11	61026184	61026184	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:61026184G>A	uc001nra.3	-	19	3110	c.2831C>T	c.(2830-2832)cCa>cTa	p.P944L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	944						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCCACTGGGGGCTGCTG	0.662000														164			41		0	0	0.014410	0	0
PARVB	29780	broad.mit.edu	37	22	44564537	44564537	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:44564537C>T	uc003bem.3	+	13	1303	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	PARVB_uc003ben.3_Silent_p.T358T|PARVB_uc010gzn.3_Silent_p.T283T|PARVB_uc003beo.3_Silent_p.T321T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	358					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ACCTGTTCACCAAGTACAAGA	0.552000														111			8		0	0	0.004482	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010706	85010706	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:85010706C>T	uc010voi.1	-	7	1209	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZDHHC7_uc002fiq.2_Missense_Mutation_p.E249K|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	249						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CTTACCGTCTCGTCGTTGCAT	0.448000														156			128		0	0	0.014410	0	0
FKBP3	2287	broad.mit.edu	37	14	45603575	45603575	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:45603575G>A	uc010tqf.2	-	0	435	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	29					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TGTTCCTGCAGAAACTTGATA	0.652000														110			80		0	0	0.014410	0	0
CTCFL	140690	broad.mit.edu	37	20	56090811	56090811	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:56090811C>G	uc010giw.1	-	5	1250	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	CTCFL_uc010gix.1_Missense_Mutation_p.R380T|CTCFL_uc002xym.2_Missense_Mutation_p.R380T|CTCFL_uc010gjb.1_Missense_Mutation_p.R380T|CTCFL_uc010gja.1_Missense_Mutation_p.R380T|CTCFL_uc010gjc.1_Missense_Mutation_p.R380T|CTCFL_uc010gjd.1_Missense_Mutation_p.R380T|CTCFL_uc010gje.3_Missense_Mutation_p.R380T|CTCFL_uc010gjg.3_Missense_Mutation_p.R112T|CTCFL_uc010gjf.3_Missense_Mutation_p.R175T|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.R175T|CTCFL_uc010gjj.2_Missense_Mutation_p.R380T|CTCFL_uc021wfe.1_Missense_Mutation_p.R380T|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R112T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	380					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTAGGTATCTCTGCTGGCATA	0.483000														343			226		0	0	0.014410	0	0
FLT4	2324	broad.mit.edu	37	5	180048230	180048230	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:180048230C>T	uc003mlz.4	-	13	2122	c.2043G>A	c.(2041-2043)acG>acA	p.T681T	FLT4_uc003mma.4_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.2_Silent_p.T681T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	681	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637000														45			53		0	0	0.014410	0	0
MLL3	58508	broad.mit.edu	37	7	151879016	151879016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:151879016G>A	uc003wla.3	-	35	6148	c.5929C>T	c.(5929-5931)Caa>Taa	p.Q1977*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q1038*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1977	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGGAAATTGATCTGTCATC	0.458000			N		medulloblastoma									563			87		0	0	0.014410	0	0
DMXL2	23312	broad.mit.edu	37	15	51857284	51857284	+	Splice_Site	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:51857284C>A	uc010ufy.2	-	4	589	c.364_splice	c.e4+1	p.D122_splice	DMXL2_uc002abf.3_Splice_Site_p.D122_splice|DMXL2_uc010bfa.3_Splice_Site_p.D122_splice	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	122						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)		TTGCTAAATACCTTGAGGATC	0.294000														9			6		3.59834e-05	3.98999e-05	0.021553	1	0
SDHA	6389	broad.mit.edu	37	5	251707	251707	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:251707T>C	uc011clv.1	+	12	2033	c.1918T>C	c.(1918-1920)Ttt>Ctt	p.F640L	SDHA_uc003jao.4_Intron|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_Intron|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	0				E -> G (in Ref. 3; AAD51006).	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AAAAAATGCCTTTTTCCCCCC	0.517000									Familial Paragangliomas					6			3		0	0	0.009096	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	G	G	rs121913483		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:1803568C>G	uc003gdr.3	+	6	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(2834)|p.R248C(362)|p.R248_S249del(2)|p.R248_S249insC(2)|p.S249T(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					16			10		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811015	140811015	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:140811015T>C	uc003lkt.2	+	0	858	c.689T>C	c.(688-690)gTg>gCg	p.V230A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.V230A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCCGCGTGATGGTTCTG	0.657000														78			57		0	0	0.014410	0	0
OR14J1	442191	broad.mit.edu	37	6	29274483	29274483	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:29274483C>T	uc011dln.2	+	0	17	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATTTGACTTCAATGAGTGGA	0.403000														41			41		0	0	0.009718	0	0
NBPF14	25832	broad.mit.edu	37	1	148025829	148025829	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:148025829C>T	uc001eqq.3	-	0	35	c.3G>A	c.(1-3)atG>atA	p.M1I	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Missense_Mutation_p.M341I|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	1						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATTCCTCAGCATAGATTTTA	0.532000														459			138		0	0	0.014410	0	0
ST7L	54879	broad.mit.edu	37	1	113126670	113126670	+	Silent	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:113126670T>C	uc001ecd.3	-	6	1085	c.780A>G	c.(778-780)gcA>gcG	p.A260A	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.A77A|ST7L_uc010owg.2_Silent_p.A195A|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.A243A|ST7L_uc001ece.3_Silent_p.A260A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A195A|ST7L_uc001ech.3_Silent_p.A243A|ST7L_uc001eci.3_Silent_p.A260A|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.A243A	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	260					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTTGAGTGCCTGTTTAA	0.433000														75			75		0	0	0.014410	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396007	38396007	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:38396007C>T	uc022bgy.1	+	0	262	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R88C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	88					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAGCCTTCCGCCTGGGGTC	0.677000														257			21		0	0	0.010504	0	0
GGT8P	645367	broad.mit.edu	37	2	91968909	91968909	+	RNA	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:91968909C>T	uc010fho.1	+	1		c.1240C>T								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GCCACCCACCCGTGACAGGCG	0.642000														16			3		0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152397247	152397247	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:152397247C>T	uc021vrb.1	-	107	15677	c.15648G>A	c.(15646-15648)ttG>ttA	p.L5216L	NEB_uc002txr.3_Silent_p.L1682L|NEB_uc002txu.3_Silent_p.L6917L|NEB_uc021vrc.1_Silent_p.L6917L|NEB_uc010fnx.3_Silent_p.L5204L|NEB_uc021vrd.1_Silent_p.L5216L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5216					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATGCTTCAAGGCTGTGG	0.433000														87			10		0	0	0.020292	0	0
UNC5C	8633	broad.mit.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:96127913G>T	uc003hto.3	-	10	2121	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T	UNC5C_uc010ilc.2_Missense_Mutation_p.P609T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	590	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P590T(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537000														96			20		4.35082e-09	5.06559e-09	0.010504	1	0
ATP1A1	476	broad.mit.edu	37	1	116931284	116931284	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:116931284G>A	uc001ege.3	+	5	865	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ATP1A1_uc010owv.1_Missense_Mutation_p.E145K|ATP1A1_uc010oww.2_Missense_Mutation_p.E176K|ATP1A1_uc010owx.2_Missense_Mutation_p.E145K	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	176					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCGAAATGGTGAGAAAATGAG	0.398000														115			86		0	0	0.014410	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679695	160679695	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:160679695G>T	uc003qtf.3	-	0	269	c.95C>A	c.(94-96)aCc>aAc	p.T32N	SLC22A2_uc003qth.2_Missense_Mutation_p.T32N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	32					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGGCGCGAAGGTAGCCGAGAG	0.612000														94			6		4.68919e-08	5.41869e-08	0.008291	1	0
ARRB1	408	broad.mit.edu	37	11	74985127	74985127	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:74985127G>C	uc001owe.2	-	10	1129	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ARRB1_uc001owf.2_Missense_Mutation_p.S302C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	302					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGGTGCTAGAGGCCAAGTT	0.602000														212			180		0	0	0.014410	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372582	151372582	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:151372582C>G	uc003wkk.3	-	3	1219	c.608G>C	c.(607-609)aGg>aCg	p.R203T	PRKAG2_uc011kvl.2_Missense_Mutation_p.R79T|PRKAG2_uc003wkj.3_Missense_Mutation_p.R159T|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.R203T	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	203					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGGCAGAACCTCTGCCCTGT	0.587000														59			50		0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28660162	28660162	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr18:28660162G>C	uc002kwl.4	-	9	1874	c.1420C>G	c.(1420-1422)Cca>Gca	p.P474A	DSC2_uc002kwk.4_Missense_Mutation_p.P474A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	474	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P473T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTGTATTGGAGGGTTACAC	0.443000														125			154		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:130287049G>A	uc010htl.3	+	4	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(2)|p.S667S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423000														153			114		0	0	0.014410	0	0
RIC8A	60626	broad.mit.edu	37	11	209483	209483	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:209483T>A	uc001lof.3	+	2	534	c.209T>A	c.(208-210)gTc>gAc	p.V70D	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.V70D|RIC8A_uc001loh.3_Missense_Mutation_p.V63D	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	70						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCAGAGTGTCCGAATCCTG	0.642000														109			33		0	0	0.009718	0	0
CCNL2	81669	broad.mit.edu	37	1	1334456	1334456	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334456G>A	uc001afi.2	-	0	263	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Silent_p.L77L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	77					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCACCACGCGGAGGTCGGTCT	0.692000														34			17		0	0	0.016522	0	0
BRD2	6046	broad.mit.edu	37	6	32947799	32947799	+	Nonsense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32947799C>G	uc010juh.3	+	10	3445	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	BRD2_uc003ocn.4_Nonsense_Mutation_p.S679*|BRD2_uc003ocp.4_Nonsense_Mutation_p.S559*|BRD2_uc003ocq.4_Nonsense_Mutation_p.S679*|BRD2_uc021ywf.1_Nonsense_Mutation_p.S632*	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	679	ET.		P -> L (in a glioblastoma multiforme sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.P714L(1)		central_nervous_system(3)|stomach(2)	5						TTACGTGATTCAAACCCAGAA	0.498000														68			46		0	0	0.011902	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327895	104327895	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:104327895G>C	uc001tkb.1	+	4	678	c.573G>C	c.(571-573)ttG>ttC	p.L191F	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.L191F	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	191					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAATTGATTGGCCAGT	0.428000														190			6		0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	95019965	95019965	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:95019965C>A	uc002btj.3	+	20	2576	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	MCTP2_uc010boj.3_Silent_p.S566S|MCTP2_uc010bok.3_Silent_p.S782S|MCTP2_uc002btl.3_Silent_p.S425S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	837					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCCCTATTCCATCGACAATA	0.383000														192			6		2.0095e-06	2.25895e-06	0.001984	1	0
HNF4A	3172	broad.mit.edu	37	20	43048484	43048484	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:43048484C>T	uc002xma.3	+	6	949	c.860C>T	c.(859-861)gCc>gTc	p.A287V	HNF4A_uc002xlt.3_Missense_Mutation_p.A265V|HNF4A_uc002xlu.3_Missense_Mutation_p.A265V|HNF4A_uc002xlv.3_Missense_Mutation_p.A265V|HNF4A_uc002xly.3_Missense_Mutation_p.A287V|HNF4A_uc010ggq.3_Missense_Mutation_p.A280V|HNF4A_uc002xlz.3_Missense_Mutation_p.A287V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	287					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGAGTATGCCTACCTCAAA	0.557000														234			5		0	0	0.021553	0	0
CCDC108	255101	broad.mit.edu	37	2	219886640	219886640	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:219886640C>T	uc002vjl.1	-	17	3076	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	998						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCAGCTCCTTTTCCTTT	0.597000														79			120		0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888030	205888030	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:205888030C>T	uc001hdp.3	-	18	2308	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	SLC26A9_uc001hdm.3_5'Flank|SLC26A9_uc001hdn.3_5'Flank|SLC26A9_uc001hdo.3_Missense_Mutation_p.D400N|SLC26A9_uc001hdq.3_Missense_Mutation_p.D732N	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGACTGCGTCATGTATGCTG	0.517000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		347			288		0	0	0.014410	0	0
TDRD10	126668	broad.mit.edu	37	1	154493835	154493835	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:154493835G>A	uc009wow.3	+	5	1087	c.249G>A	c.(247-249)gtG>gtA	p.V83V	TDRD10_uc001ffd.3_Silent_p.V83V|TDRD10_uc001ffe.3_Silent_p.V4V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	83	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGAAAGTGACACTTGCAA	0.502000														331			58		0	0	0.014410	0	0
IFIH1	64135	broad.mit.edu	37	2	163174420	163174420	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:163174420T>A	uc002uce.3	-	0	620	c.398A>T	c.(397-399)gAc>gTc	p.D133V	IFIH1_uc002ucf.3_Missense_Mutation_p.D133V	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	133	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATCCAAGACGTCTCTAACTAG	0.483000														760			15		0	0	0.028581	0	0
CELSR1	9620	broad.mit.edu	37	22	46930992	46930992	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:46930992G>A	uc003bhw.1	-	0	2076	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	692	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGAAGCTCGTAGGTGGGCT	0.642000														28			12		0	0	0.013537	0	0
PRR12	57479	broad.mit.edu	37	19	50099849	50099849	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:50099849G>A	uc002poo.4	+	3	2257	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGGCAGGCGCCAAGGAGCT	0.692000														11			11		0	0	0.008291	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279617	18279617	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:18279617G>A	uc002nia.1	+	14	2402	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	630	SH2 2.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCAACCGCACGCAGGCAGAGG	0.657000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			30		0	0	0.013726	0	0
ST18	9705	broad.mit.edu	37	8	53028901	53028901	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:53028901C>T	uc003xqz.2	-	19	3093	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ST18_uc011ldq.1_Silent_p.L626L|ST18_uc011ldr.1_Silent_p.L944L|ST18_uc011lds.1_Silent_p.L884L|ST18_uc003xra.2_Silent_p.L979L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	979						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCTCTTTCAGCAGACTTT	0.433000														60			70		0	0	0.014410	0	0
EYS	346007	broad.mit.edu	37	6	66204905	66204905	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:66204905C>T	uc011dxu.1	-	3	937	c.399G>A	c.(397-399)atG>atA	p.M133I	EYS_uc003peq.3_Missense_Mutation_p.M133I|EYS_uc003per.1_Missense_Mutation_p.M133I|EYS_uc021zbn.1_Missense_Mutation_p.M133I|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	133					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAACAGTGTGCATTCCTTTTA	0.393000														115			4		0	0	0.021553	0	0
C19orf21	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:757669C>T	uc002lpo.3	+	1	806	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	241										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGCCAACGGGCACGTGG	0.672000														24			30		0	0	0.010818	0	0
SPATA20	64847	broad.mit.edu	37	17	48628090	48628090	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628090G>A	uc002ird.3	+	10	1336	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SPATA20_uc002irc.3_Missense_Mutation_p.E50K|SPATA20_uc002ire.3_Missense_Mutation_p.E339K|SPATA20_uc002irf.3_Missense_Mutation_p.E383K|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	383					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTATAGCGCAGAAGATGCAGA	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			168		0	0	0.014410	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256349	69256349	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:69256349C>G	uc021rve.1	-	2	1219	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	ZFP36L1_uc001xki.2_Silent_p.L306L|ZFP36L1_uc001xkh.2_Silent_p.L306L	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	306					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCTGCTCAGGTAGCCCT	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			89		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103138606	103138606	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:103138606G>C	uc022ajr.1	-	53	8921	c.8761C>G	c.(8761-8763)Ctt>Gtt	p.L2921V	RELN_uc022ajq.1_Missense_Mutation_p.L2921V|RELN_uc010liz.3_Missense_Mutation_p.L2921V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2921					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTCGGCAAGAATTCCACAC	0.433000														185			3		0	0	0.004672	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000														31			3		0	0	0.009096	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552177	57552177	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:57552177G>C	uc002elw.3	-	5	1264	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	351								p.Q351E(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTTTCGGCCTGCAGCCGCTCC	0.682000														45			7		0	0	0.023175	0	0
TYRP1	7306	broad.mit.edu	37	9	12704628	12704628	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:12704628C>A	uc003zkv.4	+	5	1362	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	395				PN -> SQ (in Ref. 7; CAA35820).	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CATTTGTCTCCAAATGATCCT	0.443000									Oculocutaneous Albinism					74			34		3.90053e-15	4.6749e-15	0.012213	1	0
SPATA20	64847	broad.mit.edu	37	17	48628385	48628385	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628385G>A	uc002ird.3	+	11	1551	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SPATA20_uc002irc.3_Silent_p.Q121Q|SPATA20_uc002ire.3_Silent_p.Q410Q|SPATA20_uc002irf.3_Silent_p.Q454Q|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	454					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGGGCCAGAATGTGCTGA	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			58		0	0	0.014410	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48615544G>A	uc010wms.2	+	3	1020	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPN3_uc002ira.4_Missense_Mutation_p.E223K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E223K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667000														23			16		0	0	0.016522	0	0
ZNF876P	642280	broad.mit.edu	37	4	247622	247622	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:247622G>A	uc010iba.3	+	1		c.456G>A								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		AGACATACTGGAGAGAAATCA	0.323000														3			3		0	0	0.004672	0	0
INSM2	84684	broad.mit.edu	37	14	36005048	36005048	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:36005048C>T	uc001wth.1	+	0	1801	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAAGCACTGCCCGTCCACTT	0.627000														102			21		0	0	0.010504	0	0
ETAA1	54465	broad.mit.edu	37	2	67631299	67631299	+	Silent	SNP	A	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:67631299A>G	uc002sdz.1	+	4	1624	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	495						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACGAAATTCAAAATTGTATAG	0.279000														11			4		0	0	0.009096	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722582	122722582	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:122722582G>A	uc003iea.3	+	0	111	c.3G>A	c.(1-3)atG>atA	p.M1I	EXOSC9_uc003idz.3_Missense_Mutation_p.M1I|EXOSC9_uc003ieb.3_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	1	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCAACACCATGAAGGAAACGC	0.607000														94			74		0	0	0.014410	0	0
STAG2	10735	broad.mit.edu	37	X	123176469	123176469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:123176469C>T	uc004eua.3	+	6	840	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STAG2_uc004etz.4_Nonsense_Mutation_p.R146*|STAG2_uc004eub.3_Nonsense_Mutation_p.R146*|STAG2_uc004euc.3_Nonsense_Mutation_p.R146*|STAG2_uc004eud.3_Nonsense_Mutation_p.R146*|STAG2_uc004eue.3_Nonsense_Mutation_p.R146*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGATAATTCGAAAAATGAC	0.284000														4			71		0	0	0.014410	0	0
IL9R	3581	broad.mit.edu	37	X	155232601	155232601	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:155232601G>A	uc004fnv.1	+	1	238	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.R67Q	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	20					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTGAGGCGAGACATGGGC	0.612000														136			131		0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854436	12854436	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:12854436G>C	uc001auj.2	+	2	763	c.660G>C	c.(658-660)ctG>ctC	p.L220L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	220										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACGTCTGATAAGAAAGC	0.393000														352			337		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53028912	53028912	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:53028912C>T	uc003xqz.2	-	19	3082	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	ST18_uc011ldq.1_Missense_Mutation_p.E623K|ST18_uc011ldr.1_Missense_Mutation_p.E941K|ST18_uc011lds.1_Missense_Mutation_p.E881K|ST18_uc003xra.2_Missense_Mutation_p.E976K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGACTTTCATTGTTCTGT	0.438000														62			61		0	0	0.014410	0	0
SH2D3A	10045	broad.mit.edu	37	19	6755293	6755293	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:6755293C>T	uc002mft.3	-	4	724	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	SH2D3A_uc010xjg.2_Missense_Mutation_p.R55Q	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	177					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	p.R177Q(2)|p.R177R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ACTGCTCGTTCGGGGCAAGGC	0.592000														368			6		0	0	0.001984	0	0
POMC	5443	broad.mit.edu	37	2	25387560	25387560	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:25387560A>C	uc002rfy.1	-	2	345	c.82T>G	c.(82-84)Tgc>Ggc	p.C28G	POMC_uc002rfz.1_Missense_Mutation_p.C28G|POMC_uc002rga.1_Missense_Mutation_p.C28G	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	28					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CTCTCCAGGCACCAGCCACGC	0.617000														99			9		0	0	0.013726	0	0
SDF4	51150	broad.mit.edu	37	1	1153925	1153925	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1153925G>A	uc001adh.4	-	5	1154	c.825C>T	c.(823-825)gaC>gaT	p.D275D	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_Silent_p.D275D|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	275					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCCAGTTGTCGTCAATGTCCT	0.607000														173			8		0	0	0.004482	0	0
LMTK3	114783	broad.mit.edu	37	19	49001422	49001422	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:49001422C>A	uc002pjk.3	-	11	2991	c.2991G>T	c.(2989-2991)agG>agT	p.R997S		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCCTCCCTCCTTGGGGGTG	0.647000														295			12		2.27111e-07	2.58875e-07	0.013537	1	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:7579415C>T	uc002gim.2	-	3	466	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.3_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(21)|p.0?(8)|p.S90fs*33(4)|p.A76_S90del15(3)|p.G59fs*23(3)|p.W91fs*13(2)|p.S90fs*59(2)|p.V73fs*9(1)|p.S90F(1)|p.D48fs*55(1)|p.W91fs*32(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACAGGGGCCAGGAGGGGGC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				134			15		0	0	0.008871	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249777	79249777	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:79249777C>T	uc002jzz.1	-	7	1279	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E220K|SLC38A10_uc002kab.3_Missense_Mutation_p.E302K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	302					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGCTGCTCACACAGCAGC	0.597000														309			81		0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46712115	46712115	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:46712115C>T	uc011aqy.2	+	6	1450	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	GTSE1_uc011aqz.2_Missense_Mutation_p.P260L|GTSE1_uc003bhl.1_Missense_Mutation_p.P38L|GTSE1_uc003bhm.1_Missense_Mutation_p.P38L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCACGGCACCCCCCTCAGCA	0.627000														133			5		0	0	0.014758	0	0
NBPF14	25832	broad.mit.edu	37	1	148025786	148025786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:148025786G>A	uc001eqq.3	-	0	78	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Nonsense_Mutation_p.Q356*|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	16						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTTGAGCTGCTCTGCAAGC	0.527000														318			85		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49425839	49425839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49425839G>A	uc001rta.4	-	38	12649	c.12649C>T	c.(12649-12651)Cag>Tag	p.Q4217*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4217	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGCTGAGGACTTAAG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				40			22		0	0	0.012213	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528353	6528353	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:6528353C>T	uc001anp.1	-	20	3272	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.R885Q|PLEKHG5_uc001ano.1_Missense_Mutation_p.R904Q|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R409Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R688Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R917Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R848Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R848Q	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	904					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGAACTCGTGGGGACTC	0.662000														12			9		0	0	0.004482	0	0
MLH3	27030	broad.mit.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:75514890G>C	uc001xrd.1	-	1	1685	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	MLH3_uc001xre.1_Missense_Mutation_p.S490C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	490					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.S490Y(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378000								Mismatch excision repair (MMR)						93			60		0	0	0.014410	0	0
MAST2	23139	broad.mit.edu	37	1	46494445	46494445	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:46494445C>T	uc001cov.3	+	17	2341	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	MAST2_uc001cow.3_Silent_p.C686C|MAST2_uc001coy.1_Silent_p.C360C|MAST2_uc001coz.1_Silent_p.C571C|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	686	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGGTATGCGGGACCCCAG	0.597000														234			5		0	0	0.001984	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828063	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:42828063C>T	uc002ihf.3	+	13	1503	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617000														80			59		0	0	0.014410	0	0
FGFR3	2261	broad.mit.edu	37	4	1803749	1803749	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:1803749C>T	uc003gdr.3	+	6	1183	c.927C>T	c.(925-927)ctC>ctT	p.L309L	FGFR3_uc003gdu.2_Silent_p.L309L|FGFR3_uc003gds.3_Silent_p.L309L|FGFR3_uc003gdq.3_Silent_p.L309L|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	309	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TTACCGTGCTCAAGGTGGGCC	0.662000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					10			11		0	0	0.016723	0	0
CHRM2	1129	broad.mit.edu	37	7	136700056	136700056	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:136700056G>T	uc003vtf.1	+	3	1067	c.444G>T	c.(442-444)tgG>tgT	p.W148C	CHRM2_uc003vtg.1_Missense_Mutation_p.W148C|CHRM2_uc003vti.1_Missense_Mutation_p.W148C|CHRM2_uc003vtm.1_Missense_Mutation_p.W148C|CHRM2_uc003vtj.1_Missense_Mutation_p.W148C|CHRM2_uc003vtk.1_Missense_Mutation_p.W148C|CHRM2_uc003vtl.1_Missense_Mutation_p.W148C|CHRM2_uc003vtn.1_Missense_Mutation_p.W148C|CHRM2_uc003vto.1_Missense_Mutation_p.W148C|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.W148C	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	148					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCTGCCTGGGTCCTCTCTT	0.488000														65			8		7.48243e-07	8.46969e-07	0.006214	1	0
MCTP2	55784	broad.mit.edu	37	15	95019963	95019963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:95019963T>C	uc002btj.3	+	20	2574	c.2509T>C	c.(2509-2511)Tcc>Ccc	p.S837P	MCTP2_uc010boj.3_Missense_Mutation_p.S566P|MCTP2_uc010bok.3_Missense_Mutation_p.S782P|MCTP2_uc002btl.3_Missense_Mutation_p.S425P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	837					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAATCCCTATTCCATCGACAA	0.388000														187			6		0	0	0.001984	0	0
THRAP3	9967	broad.mit.edu	37	1	36748232	36748232	+	Missense_Mutation	SNP	G	A	A	rs148045717		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:36748232G>A	uc001cae.4	+	2	292	c.68G>A	c.(67-69)cGt>cAt	p.R23H	THRAP3_uc001caf.4_Missense_Mutation_p.R23H|THRAP3_uc001cag.1_Missense_Mutation_p.R23H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	23	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R23C(1)		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)				TCAAGATCTCGTTCTCGTTCA	0.453000			T	USP6	aneurysmal bone cysts									86			77		0	0	0.014410	0	0
GABRB3	2562	broad.mit.edu	37	15	26793190	26793190	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:26793190G>C	uc001zbb.3	-	9	1443	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.S320*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S306*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S391*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S391*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	391					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A447D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATATTGCTGAATTCCTGGT	0.493000														128			98		0	0	0.014410	0	0
C9orf24	84688	broad.mit.edu	37	9	34397497	34397497	+	Splice_Site	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:34397497C>T	uc003zuh.1	-	1	353	c.135_splice	c.e1+1	p.P45_splice		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	45										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCCACTTACCGGAGTCAGAA	0.522000														208			90		0	0	0.014410	0	0
MKL1	57591	broad.mit.edu	37	22	40814967	40814967	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:40814967G>A	uc003ayv.1	-	8	1682	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	MKL1_uc010gyf.1_Missense_Mutation_p.S442L|MKL1_uc003ayw.1_Missense_Mutation_p.S492L|MKL1_uc010gye.1_Missense_Mutation_p.S492L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	492					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.S492S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCAGTGGCGAGGCCTGCAG	0.677000			T	RBM15	acute megakaryocytic leukemia									54			18		0	0	0.007413	0	0
DBN1	1627	broad.mit.edu	37	5	176895847	176895847	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:176895847C>G	uc003mgx.2	-	2	428	c.146G>C	c.(145-147)gGa>gCa	p.G49A	DBN1_uc003mgy.2_Missense_Mutation_p.G47A|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_5'UTR	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	47	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCCTACCTCCTGATGCTGC	0.612000														158			5		0	0	0.003080	0	0
NSD1	64324	broad.mit.edu	37	5	176710832	176710832	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:176710832C>G	uc003mfr.4	+	19	6192	c.6054C>G	c.(6052-6054)ttC>ttG	p.F2018L	NSD1_uc003mft.4_Missense_Mutation_p.F1749L|NSD1_uc011dfx.2_Missense_Mutation_p.F1666L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2018	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCTCGGTTCATGAATCATT	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				148			3		0	0	0.004672	0	0
LMTK3	114783	broad.mit.edu	37	19	49001524	49001524	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:49001524C>G	uc002pjk.3	-	11	2889	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGGGGCTCTCTGGTCCCCGT	0.647000														100			6		0	0	0.021553	0	0
UCHL3	7347	broad.mit.edu	37	13	76123978	76123978	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr13:76123978C>G	uc001vjq.3	+	0	52	c.22C>G	c.(22-24)Ccg>Gcg	p.P8A		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	8	Interaction with ubiquitin.				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ACGCTGGCTGCCGCTGGAGGC	0.751000											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			6		0	0	0.004990	0	0
CPXM1	56265	broad.mit.edu	37	20	2775058	2775058	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:2775058C>A	uc002wgu.3	-	13	2057	c.1983G>T	c.(1981-1983)tgG>tgT	p.W661C	CPXM1_uc010gas.3_Missense_Mutation_p.W587C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	661					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAGACGCCAATAATCCC	0.597000														86			17		3.62473e-10	4.28139e-10	0.012319	1	0
LHFPL4	375323	broad.mit.edu	37	3	9547649	9547649	+	Splice_Site	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:9547649G>A	uc003bry.3	-	3	929	c.643_splice	c.e3+1	p.D215_splice		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	215						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCACACTCGCCTTTGTTCT	0.592000														173			176		0	0	0.014410	0	0
XPR1	9213	broad.mit.edu	37	1	180849312	180849312	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:180849312G>C	uc001goi.3	+	13	2101	c.1909G>C	c.(1909-1911)Gat>Cat	p.D637H	XPR1_uc009wxn.3_Missense_Mutation_p.D572H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	637	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGAACGCAGATGATCAGAC	0.517000														65			45		0	0	0.014410	0	0
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	A	A	rs138844530	by1000genomes	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:100623250G>A	uc002taf.3	-	5	936	c.792C>T	c.(790-792)gaC>gaT	p.D264D	AFF3_uc002tag.3_Silent_p.D239D|AFF3_uc010fiq.1_Silent_p.D239D|AFF3_uc010yvr.1_Silent_p.D393D|AFF3_uc002tah.1_Silent_p.D264D|AFF3_uc010fir.1_Silent_p.D316D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	239					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572000														55			61		0	0	0.014410	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142257	48142257	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:48142257G>A	uc001rpz.4	-	11	1773	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.S366F|RAPGEF3_uc009zkq.3_Missense_Mutation_p.S366F|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.S420F	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	366					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAGCACTGGAATCTGGTCC	0.547000														57			42		0	0	0.014410	0	0
ERLIN2	11160	broad.mit.edu	37	8	37597912	37597912	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:37597912G>A	uc003xke.4	+	2	252	c.137G>A	c.(136-138)gGc>gAc	p.G46D	AX747135_uc003xkb.1_5'Flank|ERLIN2_uc003xkc.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkd.3_Missense_Mutation_p.G46D|ERLIN2_uc003xkf.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkg.3_Missense_Mutation_p.G46D	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	46					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGACCAGCGGCCCTGGTTTC	0.537000														494			16		0	0	0.028581	0	0
CCNL2	81669	broad.mit.edu	37	1	1334592	1334592	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334592G>A	uc001afi.2	-	0	127	c.95C>T	c.(94-96)tCg>tTg	p.S32L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.S32L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	32					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCCCTGCGACCCTGAGGG	0.711000														34			28		0	0	0.010818	0	0
CACNG4	27092	broad.mit.edu	37	17	65026963	65026963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:65026963T>C	uc002jft.2	+	3	875	c.827T>C	c.(826-828)aTg>aCg	p.M276T		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	276					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAGCTGTCCATGTACACGCTG	0.647000														141			36		0	0	0.010771	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:94297234G>C	uc001kia.3	-	1	248	c.172C>G	c.(172-174)Cct>Gct	p.P58A		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														114			108		0	0	0.014410	0	0
GGA2	23062	broad.mit.edu	37	16	23503028	23503028	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:23503028G>C	uc002dlq.3	-	4	528	c.445C>G	c.(445-447)Cga>Gga	p.R149G	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	149	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R149*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TAAGCGTCTCGAATCTTGATG	0.443000														367			8		0	0	0.006214	0	0
SHE	126669	broad.mit.edu	37	1	154474217	154474217	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:154474217C>T	uc001ffb.3	-	0	310	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SHE_uc001ffc.3_Non-coding_Transcript|TDRD10_uc001ffd.3_5'Flank|TDRD10_uc009wow.3_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	96										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGGGGCCGACGCCGGCCCTG	0.731000														3			4		0	0	0.004482	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:10216500G>A	uc002gmk.1	-	29	4246	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000														341			8		0	0	0.008291	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439254	14439254	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr21:14439254G>A	uc002yja.4	+	9		c.2772G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AGGAAAAATCGAAGAGCAACA	0.303000														21			15		0	0	0.028581	0	0
BRD2	6046	broad.mit.edu	37	6	32945959	32945959	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32945959C>G	uc010juh.3	+	8	2939	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P	BRD2_uc003ocn.4_Silent_p.P545P|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.P425P|BRD2_uc003ocq.4_Silent_p.P545P|BRD2_uc021ywf.1_Silent_p.P498P	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	545	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TATCCAAGCCCAAGAGGAAAA	0.463000														61			52		0	0	0.014410	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407208	62407208	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:62407208G>A	uc002ygv.2	-	2	1246	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGAGGGCCCAGATAGCTGGCT	0.662000														128			120		0	0	0.014410	0	0
WDR59	79726	broad.mit.edu	37	16	74990405	74990405	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:74990405G>A	uc002fdh.1	-	2	310	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	WDR59_uc002fdi.3_Missense_Mutation_p.H70Y|WDR59_uc021tli.1_Missense_Mutation_p.H49Y	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	70										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGCTGTCATGAGGATTCCAC	0.468000														76			54		0	0	0.014410	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667829	49667829	+	Missense_Mutation	SNP	C	T	T	rs75710233	byFrequency	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:49667829C>T	uc001jgu.3	-	4	902	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R96H|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R186H|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R143H|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R192H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	186	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGAGCCCGCGCTCCCGGAT	0.642000														152			66		0	0	0.014410	0	0
WDR54	84058	broad.mit.edu	37	2	74652604	74652604	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:74652604A>G	uc002slb.3	+	8	919	c.859A>G	c.(859-861)Agt>Ggt	p.S287G		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	287								p.E286K(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AAACCCAGAGAGTGGCTACAT	0.597000														153			3		0	0	0.009096	0	0
GRHL2	79977	broad.mit.edu	37	8	102631907	102631907	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:102631907C>G	uc010mbu.3	+	8	1569	c.1239C>G	c.(1237-1239)atC>atG	p.I413M		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	413						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATTGCCAGATCAAGGTCTTCT	0.338000														187			5		0	0	0.021553	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391505	102391505	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:102391505C>G	uc001yko.3	+	13	1611	c.1471C>G	c.(1471-1473)Cct>Gct	p.P491A	PPP2R5C_uc010txr.2_Missense_Mutation_p.P522A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.P507A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.P452A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	491					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R490C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGGACCGTCCTCTTGCACG	0.552000														474			7		0	0	0.004482	0	0
SGMS1	259230	broad.mit.edu	37	10	52071078	52071078	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:52071078T>C	uc001jje.3	-	8	1793	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	SGMS1_uc010qhk.2_Missense_Mutation_p.Y111C|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_3'UTR	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	286					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGTACAGATAGTCCCCACA	0.453000														39			27		0	0	0.007291	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296712	25296712	+	RNA	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:25296712G>C	uc001yxg.3	+	0		c.90G>C								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		CATCGGAACTGAGGTCCAGCA	0.473000														132			83		0	0	0.014410	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472882	70472882	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:70472882C>G	uc004dzh.2	-	1	403	c.224G>C	c.(223-225)gGa>gCa	p.G75A	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.G75A|ZMYM3_uc004dzj.2_Missense_Mutation_p.G75A|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Missense_Mutation_p.G75A	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	75					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCAGTGGCTCCATCCAGGAC	0.652000														35			3		0	0	0.009096	0	0
CLINT1	9685	broad.mit.edu	37	5	157240138	157240138	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:157240138C>G	uc003lxj.2	-	4	655	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CLINT1_uc003lxi.2_Missense_Mutation_p.K132N|CLINT1_uc011ddv.2_Missense_Mutation_p.K150N	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	150					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTGCTTTCTTTCGCTCTT	0.423000														54			54		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57004337	57004337	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:57004337G>C	uc001njo.3	-	0	591	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	48						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGAGCACCAGACCGTTGCCC	0.592000														105			71		0	0	0.014410	0	0
SYNM	23336	broad.mit.edu	37	15	99670884	99670884	+	Silent	SNP	C	G	G	rs112125623		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:99670884C>G	uc002bup.3	+	4	2436	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V	SYNM_uc002buo.3_Silent_p.V772V|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	773	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGGAGGTCGAAGATGTGT	0.547000														65			3		0	0	0.004672	0	0
TYRO3	7301	broad.mit.edu	37	15	41859568	41859568	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:41859568C>A	uc001zof.2	+	6	1030	c.794C>A	c.(793-795)gCc>gAc	p.A265D		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	265	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A265G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACACAGGCCCCAGGAGGC	0.557000														250			8		0.00448238	0.00487085	0.004482	1	0
HECW1	23072	broad.mit.edu	37	7	43519234	43519234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:43519234G>C	uc003tid.1	+	16	3730	c.3125G>C	c.(3124-3126)cGa>cCa	p.R1042P	HECW1_uc011kbi.1_Missense_Mutation_p.R1008P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1042	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAACAGTCGAGCTACCACT	0.493000														246			7		0	0	0.003080	0	0
NTN3	4917	broad.mit.edu	37	16	2522390	2522390	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:2522390G>C	uc002cqj.3	+	0	891	c.688G>C	c.(688-690)Gca>Cca	p.A230P	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	230	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GCCTAGCACGGCAGGTGACCC	0.667000														56			3		0	0	0.004672	0	0
CX3CL1	6376	broad.mit.edu	37	16	57413597	57413597	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:57413597C>T	uc002eli.3	+	1	189	c.122C>T	c.(121-123)tCa>tTa	p.S41L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	41	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGATGACATCAAAGATACCT	0.517000														90			5		0	0	0.014758	0	0
ITGAE	3682	broad.mit.edu	37	17	3659152	3659152	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:3659152A>T	uc002fwo.4	-	10	1310	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	404					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAAGCCAATCTGTGCCAG	0.592000														7			7		0	0	0.003080	0	0
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:160157288A>T	uc003qsl.3	+	2	215	c.-7_splice	c.e2-2		WTAP_uc010kjx.3_Splice_Site|WTAP_uc003qsk.3_Splice_Site|WTAP_uc003qsn.3_Splice_Site	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.						RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318000														274			5		0	0	0.014758	0	0
MS4A15	219995	broad.mit.edu	37	11	60540926	60540926	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:60540926T>A	uc009ynf.1	+	4	687	c.467T>A	c.(466-468)aTt>aAt	p.I156N	MS4A15_uc001npx.2_Missense_Mutation_p.I63N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.I115N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	156						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGGACAGCCATTCTGCTCATG	0.572000														25			30		0	0	0.003755	0	0
EFHB	151651	broad.mit.edu	37	3	19925989	19925989	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:19925989G>C	uc003cbl.4	-	10	2248	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	EFHB_uc003cbm.3_Silent_p.L554L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	684					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAAGTGTCCGGAGAGTCTTTT	0.393000														94			78		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39910503	39910503	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:39910503G>C	uc021olw.1	+	44	14930	c.14930G>C	c.(14929-14931)aGa>aCa	p.R4977T	MACF1_uc021ols.1_Missense_Mutation_p.R4472T|MACF1_uc021olt.1_Missense_Mutation_p.R4475T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6542					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAAGAAAGAAAGGTACAG	0.418000														54			44		0	0	0.009718	0	0
OBSL1	23363	broad.mit.edu	37	2	220420911	220420911	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:220420911G>A	uc010fwk.3	-	13	4754	c.4440C>T	c.(4438-4440)gcC>gcT	p.A1480A	OBSL1_uc002vmh.1_Silent_p.A379A|OBSL1_uc010zli.1_Silent_p.A287A|OBSL1_uc010fwl.2_Silent_p.A1480A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1480	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCAGCGCACGGCCCCCGCTG	0.657000														9			5		0	0	0.001984	0	0
CCNL2	81669	broad.mit.edu	37	1	1334456	1334456	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334456G>A	uc001afi.2	-	0	263	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Silent_p.L77L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	77					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCACCACGCGGAGGTCGGTCT	0.692000														18			11		0	0	0.002450	0	0
LRRN2	10446	broad.mit.edu	37	1	204587907	204587907	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:204587907C>T	uc021phy.1	-	0	1214	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R405H|LRRN2_uc001hbf.1_Missense_Mutation_p.R405H|LRRN2_uc009xbf.1_Missense_Mutation_p.R405H|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	405	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACCGGGAGGCGCTGGAGGTC	0.662000														69			4		0	0	0.003080	0	0
PICK1	9463	broad.mit.edu	37	22	38470965	38470965	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:38470965C>G	uc003auq.3	+	12	1464	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	PICK1_uc003aur.3_Missense_Mutation_p.F358L|PICK1_uc003aus.3_Missense_Mutation_p.F358L|PICK1_uc003aut.3_Missense_Mutation_p.F358L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	358					DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGACGTCTTCCCCATCGAGG	0.607000														37			19		0	0	0.007413	0	0
KRT13	3860	broad.mit.edu	37	17	39659037	39659037	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:39659037T>A	uc002hwu.1	-	4	988	c.925A>T	c.(925-927)Acc>Tcc	p.T309S	KRT13_uc002hwv.1_Missense_Mutation_p.T309S|KRT13_uc010wfr.2_Missense_Mutation_p.T202S|KRT13_uc010cxo.3_Missense_Mutation_p.T309S|KRT13_uc021txk.1_Missense_Mutation_p.T202S	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	309	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGTGTTGGTAGACACCTCC	0.577000														198			161		0	0	0.014410	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														133			7		0	0	0.001984	0	0
WDR11	55717	broad.mit.edu	37	10	122618295	122618295	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:122618295C>A	uc021pzt.1	+	2	585	c.339C>A	c.(337-339)gcC>gcA	p.A113A	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	113						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGAGCATGCCAAGCCTATCC	0.468000														56			5		2.61681e-11	2.92243e-11	0.002450	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140725009	140725009	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:140725009C>T	uc003ljm.2	+	0	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S470F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTCTCA	0.547000														145			127		0	0	0.014410	0	0
STARD10	10809	broad.mit.edu	37	11	72470333	72470333	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:72470333C>G	uc001osy.3	-	2	485	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.E101Q|STARD10_uc001ota.3_Missense_Mutation_p.E55Q|STARD10_uc001otb.3_Missense_Mutation_p.E101Q	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	101	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCAAAAGTCTCAATGACGTTG	0.562000														58			58		0	0	0.014410	0	0
SLC25A1	6576	broad.mit.edu	37	22	19164390	19164390	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:19164390G>A	uc021wlb.1	-	4	626	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SLC25A1_uc002zoy.3_Silent_p.F97F|SLC25A1_uc002zoz.3_Silent_p.F200F	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	200					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGGTCATGACGAAGAAGCGGA	0.642000														125			4		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49426526G>A	uc001rta.4	-	38	11962	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3718*(1)|p.G3988fs*20(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTTGTTGCTGAGGAGACAGT	0.532000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				14			13		0	0	0.013537	0	0
TEX2	55852	broad.mit.edu	37	17	62238165	62238165	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:62238165C>G	uc002jed.3	-	7	2972	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q	TEX2_uc002jec.3_Missense_Mutation_p.E934Q|TEX2_uc002jee.3_Missense_Mutation_p.E934Q	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTTACCCTTCTTTGCCAATT	0.463000														267			609		0	0	0.014410	0	0
RIC8A	60626	broad.mit.edu	37	11	209483	209483	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:209483T>A	uc001lof.3	+	2	534	c.209T>A	c.(208-210)gTc>gAc	p.V70D	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.V70D|RIC8A_uc001loh.3_Missense_Mutation_p.V63D	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	70						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCAGAGTGTCCGAATCCTG	0.642000														66			21		0	0	0.008871	0	0
CTCFL	140690	broad.mit.edu	37	20	56090811	56090811	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:56090811C>G	uc010giw.1	-	5	1250	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	CTCFL_uc010gix.1_Missense_Mutation_p.R380T|CTCFL_uc002xym.2_Missense_Mutation_p.R380T|CTCFL_uc010gjb.1_Missense_Mutation_p.R380T|CTCFL_uc010gja.1_Missense_Mutation_p.R380T|CTCFL_uc010gjc.1_Missense_Mutation_p.R380T|CTCFL_uc010gjd.1_Missense_Mutation_p.R380T|CTCFL_uc010gje.3_Missense_Mutation_p.R380T|CTCFL_uc010gjg.3_Missense_Mutation_p.R112T|CTCFL_uc010gjf.3_Missense_Mutation_p.R175T|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.R175T|CTCFL_uc010gjj.2_Missense_Mutation_p.R380T|CTCFL_uc021wfe.1_Missense_Mutation_p.R380T|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R112T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	380					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTAGGTATCTCTGCTGGCATA	0.483000														278			219		0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542000														38			29		0	0	0.014410	0	0
VLDLR	7436	broad.mit.edu	37	9	2651933	2651933	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:2651933G>A	uc003zhk.1	+	16	2792	c.2395G>A	c.(2395-2397)Gca>Aca	p.A799T	VLDLR_uc003zhl.1_Missense_Mutation_p.A771T|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	799					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.A799T(2)|p.A798A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTTCTGCCGCATGGGCCAT	0.433000														108			43		0	0	0.013114	0	0
VWCE	220001	broad.mit.edu	37	11	61026184	61026184	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:61026184G>A	uc001nra.3	-	19	3110	c.2831C>T	c.(2830-2832)cCa>cTa	p.P944L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	944						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCCACTGGGGGCTGCTG	0.662000														88			34		0	0	0.014410	0	0
PARVB	29780	broad.mit.edu	37	22	44564537	44564537	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:44564537C>T	uc003bem.3	+	13	1303	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	PARVB_uc003ben.3_Silent_p.T358T|PARVB_uc010gzn.3_Silent_p.T283T|PARVB_uc003beo.3_Silent_p.T321T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	358					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ACCTGTTCACCAAGTACAAGA	0.552000														86			11		0	0	0.010729	0	0
FKBP3	2287	broad.mit.edu	37	14	45603575	45603575	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:45603575G>A	uc010tqf.2	-	0	435	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	29					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TGTTCCTGCAGAAACTTGATA	0.652000														83			41		0	0	0.010771	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386444	121386444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:121386444G>A	uc010hrc.3	-	19	9574	c.9448C>T	c.(9448-9450)Cag>Tag	p.Q3150*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.Q3140*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.Q3106*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.Q3065*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3140					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTGCTGCTGAGCTTCAGAA	0.423000														121			4		0	0	0.014758	0	0
FLT4	2324	broad.mit.edu	37	5	180048230	180048230	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:180048230C>T	uc003mlz.4	-	13	2122	c.2043G>A	c.(2041-2043)acG>acA	p.T681T	FLT4_uc003mma.4_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.2_Silent_p.T681T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	681	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637000														26			26		0	0	0.006320	0	0
MLL3	58508	broad.mit.edu	37	7	151879016	151879016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:151879016G>A	uc003wla.3	-	35	6148	c.5929C>T	c.(5929-5931)Caa>Taa	p.Q1977*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q1038*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1977	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGGAAATTGATCTGTCATC	0.458000			N		medulloblastoma									509			93		0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														28			6		0	0	0.001984	0	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	G	G	rs121913483		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:1803568C>G	uc003gdr.3	+	6	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(2834)|p.R248C(362)|p.R248_S249del(2)|p.R248_S249insC(2)|p.S249T(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					9			8		0	0	0.010729	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811015	140811015	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:140811015T>C	uc003lkt.2	+	0	858	c.689T>C	c.(688-690)gTg>gCg	p.V230A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.V230A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCCGCGTGATGGTTCTG	0.657000														79			60		0	0	0.014410	0	0
OR14J1	442191	broad.mit.edu	37	6	29274483	29274483	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:29274483C>T	uc011dln.2	+	0	17	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATTTGACTTCAATGAGTGGA	0.403000														218			138		0	0	0.014410	0	0
NBPF14	25832	broad.mit.edu	37	1	148025829	148025829	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:148025829C>T	uc001eqq.3	-	0	35	c.3G>A	c.(1-3)atG>atA	p.M1I	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Missense_Mutation_p.M341I|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	1						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATTCCTCAGCATAGATTTTA	0.532000														395			111		0	0	0.014410	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065844	110065844	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:110065844G>A	uc010ywt.1	+	7	2047	c.2047G>A	c.(2047-2049)Gca>Aca	p.A683T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	683							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGTCAGTGCCGCAAACCTCAA	0.622000														35			3		0	0	0.004672	0	0
ST7L	54879	broad.mit.edu	37	1	113126670	113126670	+	Silent	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:113126670T>C	uc001ecd.3	-	6	1085	c.780A>G	c.(778-780)gcA>gcG	p.A260A	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.A77A|ST7L_uc010owg.2_Silent_p.A195A|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.A243A|ST7L_uc001ece.3_Silent_p.A260A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A195A|ST7L_uc001ech.3_Silent_p.A243A|ST7L_uc001eci.3_Silent_p.A260A|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.A243A	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	260					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTTGAGTGCCTGTTTAA	0.433000														97			86		0	0	0.014410	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396007	38396007	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:38396007C>T	uc022bgy.1	+	0	262	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R88C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	88					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAGCCTTCCGCCTGGGGTC	0.677000														235			19		0	0	0.010504	0	0
DMXL2	23312	broad.mit.edu	37	15	51857284	51857284	+	Splice_Site	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:51857284C>A	uc010ufy.2	-	4	589	c.364_splice	c.e4+1	p.D122_splice	DMXL2_uc002abf.3_Splice_Site_p.D122_splice|DMXL2_uc010bfa.3_Splice_Site_p.D122_splice	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	122						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)		TTGCTAAATACCTTGAGGATC	0.294000														27			23		3.5997e-14	4.04966e-14	0.014323	1	0
INSM2	84684	broad.mit.edu	37	14	36005048	36005048	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:36005048C>T	uc001wth.1	+	0	1801	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAAGCACTGCCCGTCCACTT	0.627000														82			23		0	0	0.012319	0	0
NEB	4703	broad.mit.edu	37	2	152397247	152397247	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:152397247C>T	uc021vrb.1	-	107	15677	c.15648G>A	c.(15646-15648)ttG>ttA	p.L5216L	NEB_uc002txr.3_Silent_p.L1682L|NEB_uc002txu.3_Silent_p.L6917L|NEB_uc021vrc.1_Silent_p.L6917L|NEB_uc010fnx.3_Silent_p.L5204L|NEB_uc021vrd.1_Silent_p.L5216L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5216					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATGCTTCAAGGCTGTGG	0.433000														145			8		0	0	0.006214	0	0
UNC5C	8633	broad.mit.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:96127913G>T	uc003hto.3	-	10	2121	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T	UNC5C_uc010ilc.2_Missense_Mutation_p.P609T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	590	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P590T(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537000														80			16		3.41278e-10	3.78374e-10	0.004990	1	0
ATP1A1	476	broad.mit.edu	37	1	116931284	116931284	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:116931284G>A	uc001ege.3	+	5	865	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ATP1A1_uc010owv.1_Missense_Mutation_p.E145K|ATP1A1_uc010oww.2_Missense_Mutation_p.E176K|ATP1A1_uc010owx.2_Missense_Mutation_p.E145K	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	176					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCGAAATGGTGAGAAAATGAG	0.398000														133			84		0	0	0.014410	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372582	151372582	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:151372582C>G	uc003wkk.3	-	3	1219	c.608G>C	c.(607-609)aGg>aCg	p.R203T	PRKAG2_uc011kvl.2_Missense_Mutation_p.R79T|PRKAG2_uc003wkj.3_Missense_Mutation_p.R159T|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.R203T	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	203					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGGCAGAACCTCTGCCCTGT	0.587000														59			45		0	0	0.013114	0	0
DSC2	1824	broad.mit.edu	37	18	28660162	28660162	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr18:28660162G>C	uc002kwl.4	-	9	1874	c.1420C>G	c.(1420-1422)Cca>Gca	p.P474A	DSC2_uc002kwk.4_Missense_Mutation_p.P474A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	474	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P473T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTGTATTGGAGGGTTACAC	0.443000														174			202		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:130287049G>A	uc010htl.3	+	4	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(2)|p.S667S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423000														151			128		0	0	0.014410	0	0
F5	2153	broad.mit.edu	37	1	169525999	169525999	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:169525999G>C	uc001ggg.1	-	5	982	c.837C>G	c.(835-837)aaC>aaG	p.N279K	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	279	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCTTATGATGGTTCTGCTCCA	0.517000														111			4		0	0	0.009096	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010706	85010706	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:85010706C>T	uc010voi.1	-	7	1209	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZDHHC7_uc002fiq.2_Missense_Mutation_p.E249K|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	249						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CTTACCGTCTCGTCGTTGCAT	0.448000														131			105		0	0	0.014410	0	0
BRD2	6046	broad.mit.edu	37	6	32947799	32947799	+	Nonsense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32947799C>G	uc010juh.3	+	10	3445	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	BRD2_uc003ocn.4_Nonsense_Mutation_p.S679*|BRD2_uc003ocp.4_Nonsense_Mutation_p.S559*|BRD2_uc003ocq.4_Nonsense_Mutation_p.S679*|BRD2_uc021ywf.1_Nonsense_Mutation_p.S632*	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	679	ET.		P -> L (in a glioblastoma multiforme sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.P714L(1)		central_nervous_system(3)|stomach(2)	5						TTACGTGATTCAAACCCAGAA	0.498000														50			42		0	0	0.007835	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327895	104327895	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:104327895G>C	uc001tkb.1	+	4	678	c.573G>C	c.(571-573)ttG>ttC	p.L191F	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.L191F	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	191					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAATTGATTGGCCAGT	0.428000														215			4		0	0	0.001168	0	0
CCDC108	255101	broad.mit.edu	37	2	219886640	219886640	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:219886640C>T	uc002vjl.1	-	17	3076	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	998						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCAGCTCCTTTTCCTTT	0.597000														58			80		0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888030	205888030	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:205888030C>T	uc001hdp.3	-	18	2308	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	SLC26A9_uc001hdm.3_5'Flank|SLC26A9_uc001hdn.3_5'Flank|SLC26A9_uc001hdo.3_Missense_Mutation_p.D400N|SLC26A9_uc001hdq.3_Missense_Mutation_p.D732N	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGACTGCGTCATGTATGCTG	0.517000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		295			260		0	0	0.014410	0	0
TDRD10	126668	broad.mit.edu	37	1	154493835	154493835	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:154493835G>A	uc009wow.3	+	5	1087	c.249G>A	c.(247-249)gtG>gtA	p.V83V	TDRD10_uc001ffd.3_Silent_p.V83V|TDRD10_uc001ffe.3_Silent_p.V4V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	83	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGAAAGTGACACTTGCAA	0.502000														304			30		0	0	0.010818	0	0
CELSR1	9620	broad.mit.edu	37	22	46930992	46930992	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:46930992G>A	uc003bhw.1	-	0	2076	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	692	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGAAGCTCGTAGGTGGGCT	0.642000														28			9		0	0	0.013537	0	0
IL9R	3581	broad.mit.edu	37	X	155232601	155232601	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:155232601G>A	uc004fnv.1	+	1	238	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.R67Q	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	20					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTGAGGCGAGACATGGGC	0.612000														128			71		0	0	0.014410	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279617	18279617	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:18279617G>A	uc002nia.1	+	14	2402	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	630	SH2 2.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCAACCGCACGCAGGCAGAGG	0.657000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			18		0	0	0.006122	0	0
ST18	9705	broad.mit.edu	37	8	53028901	53028901	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:53028901C>T	uc003xqz.2	-	19	3093	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ST18_uc011ldq.1_Silent_p.L626L|ST18_uc011ldr.1_Silent_p.L944L|ST18_uc011lds.1_Silent_p.L884L|ST18_uc003xra.2_Silent_p.L979L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	979						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCTCTTTCAGCAGACTTT	0.433000														98			64		0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244727	56244727	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:56244727C>A	uc002qly.3	-	1	498	c.470G>T	c.(469-471)gGa>gTa	p.G157V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	157	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTTGTTTTTCCAATTCCATC	0.408000														136			4		0.00909568	0.00946693	0.009096	1	0
C19orf21	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:757669C>T	uc002lpo.3	+	1	806	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	241										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGCCAACGGGCACGTGG	0.672000														24			25		0	0	0.005443	0	0
SPATA20	64847	broad.mit.edu	37	17	48628090	48628090	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628090G>A	uc002ird.3	+	10	1336	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SPATA20_uc002irc.3_Missense_Mutation_p.E50K|SPATA20_uc002ire.3_Missense_Mutation_p.E339K|SPATA20_uc002irf.3_Missense_Mutation_p.E383K|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	383					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTATAGCGCAGAAGATGCAGA	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		189			155		0	0	0.014410	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256349	69256349	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:69256349C>G	uc021rve.1	-	2	1219	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	ZFP36L1_uc001xki.2_Silent_p.L306L|ZFP36L1_uc001xkh.2_Silent_p.L306L	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	306					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCTGCTCAGGTAGCCCT	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			64		0	0	0.014410	0	0
TYRP1	7306	broad.mit.edu	37	9	12704628	12704628	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:12704628C>A	uc003zkv.4	+	5	1362	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	395				PN -> SQ (in Ref. 7; CAA35820).	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CATTTGTCTCCAAATGATCCT	0.443000									Oculocutaneous Albinism					238			99		1.14069e-49	1.30243e-49	0.014410	1	0
SPATA20	64847	broad.mit.edu	37	17	48628385	48628385	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48628385G>A	uc002ird.3	+	11	1551	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SPATA20_uc002irc.3_Silent_p.Q121Q|SPATA20_uc002ire.3_Silent_p.Q410Q|SPATA20_uc002irf.3_Silent_p.Q454Q|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	454					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGGGCCAGAATGTGCTGA	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			53		0	0	0.014410	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:48615544G>A	uc010wms.2	+	3	1020	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPN3_uc002ira.4_Missense_Mutation_p.E223K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E223K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667000														11			21		0	0	0.003330	0	0
ZNF876P	642280	broad.mit.edu	37	4	247622	247622	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:247622G>A	uc010iba.3	+	1		c.456G>A								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		AGACATACTGGAGAGAAATCA	0.323000														14			3		0	0	0.004672	0	0
MACC1	346389	broad.mit.edu	37	7	20199090	20199090	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:20199090C>A	uc003sus.4	-	4	1203	c.894G>T	c.(892-894)aaG>aaT	p.K298N	MACC1_uc010kug.3_Missense_Mutation_p.K298N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	298					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGAAAGGATCCTTTCTTACTT	0.413000														92			21		2.4624e-09	2.71041e-09	0.008871	1	0
ETAA1	54465	broad.mit.edu	37	2	67631299	67631299	+	Silent	SNP	A	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:67631299A>G	uc002sdz.1	+	4	1624	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	495						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACGAAATTCAAAATTGTATAG	0.279000														40			42		0	0	0.006999	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														19			4		0	0	0.009096	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722582	122722582	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr4:122722582G>A	uc003iea.3	+	0	111	c.3G>A	c.(1-3)atG>atA	p.M1I	EXOSC9_uc003idz.3_Missense_Mutation_p.M1I|EXOSC9_uc003ieb.3_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	1	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCAACACCATGAAGGAAACGC	0.607000														88			58		0	0	0.014410	0	0
STAG2	10735	broad.mit.edu	37	X	123176469	123176469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chrX:123176469C>T	uc004eua.3	+	6	840	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STAG2_uc004etz.4_Nonsense_Mutation_p.R146*|STAG2_uc004eub.3_Nonsense_Mutation_p.R146*|STAG2_uc004euc.3_Nonsense_Mutation_p.R146*|STAG2_uc004eud.3_Nonsense_Mutation_p.R146*|STAG2_uc004eue.3_Nonsense_Mutation_p.R146*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGATAATTCGAAAAATGAC	0.284000														10			72		0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854436	12854436	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:12854436G>C	uc001auj.2	+	2	763	c.660G>C	c.(658-660)ctG>ctC	p.L220L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	220										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACGTCTGATAAGAAAGC	0.393000														359			337		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53028912	53028912	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:53028912C>T	uc003xqz.2	-	19	3082	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	ST18_uc011ldq.1_Missense_Mutation_p.E623K|ST18_uc011ldr.1_Missense_Mutation_p.E941K|ST18_uc011lds.1_Missense_Mutation_p.E881K|ST18_uc003xra.2_Missense_Mutation_p.E976K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGACTTTCATTGTTCTGT	0.438000														93			54		0	0	0.014410	0	0
MKL1	57591	broad.mit.edu	37	22	40814967	40814967	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:40814967G>A	uc003ayv.1	-	8	1682	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	MKL1_uc010gyf.1_Missense_Mutation_p.S442L|MKL1_uc003ayw.1_Missense_Mutation_p.S492L|MKL1_uc010gye.1_Missense_Mutation_p.S492L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	492					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.S492S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCAGTGGCGAGGCCTGCAG	0.677000			T	RBM15	acute megakaryocytic leukemia									44			10		0	0	0.008291	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115274	220115274	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:220115274C>T	uc002vkt.1	-	3	1205	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	TUBA4A_uc010zkz.1_Missense_Mutation_p.A368T|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	383					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGATGGCGGTCGTGTTG	0.622000														71			4		0	0	0.009096	0	0
DLG1	1739	broad.mit.edu	37	3	196771534	196771534	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:196771534G>C	uc010ial.3	-	25	2934	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C	DLG1_uc011bub.2_Missense_Mutation_p.S788C|DLG1_uc011buc.2_Missense_Mutation_p.S776C|DLG1_uc011bud.2_Missense_Mutation_p.S575C|DLG1_uc003fxo.4_Missense_Mutation_p.S892C|DLG1_uc003fxn.4_Missense_Mutation_p.S914C|DLG1_uc011bue.2_Missense_Mutation_p.S880C	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	892					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTAAGAACCAGATTGTTCTTC	0.378000														210			6		0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:7579415C>T	uc002gim.2	-	3	466	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.3_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(21)|p.0?(8)|p.S90fs*33(4)|p.A76_S90del15(3)|p.G59fs*23(3)|p.W91fs*13(2)|p.S90fs*59(2)|p.V73fs*9(1)|p.S90F(1)|p.D48fs*55(1)|p.W91fs*32(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACAGGGGCCAGGAGGGGGC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				97			19		0	0	0.012319	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000														115			4		0	0	0.014758	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249777	79249777	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:79249777C>T	uc002jzz.1	-	7	1279	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E220K|SLC38A10_uc002kab.3_Missense_Mutation_p.E302K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	302					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGCTGCTCACACAGCAGC	0.597000														218			60		0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46712115	46712115	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr22:46712115C>T	uc011aqy.2	+	6	1450	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	GTSE1_uc011aqz.2_Missense_Mutation_p.P260L|GTSE1_uc003bhl.1_Missense_Mutation_p.P38L|GTSE1_uc003bhm.1_Missense_Mutation_p.P38L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCACGGCACCCCCCTCAGCA	0.627000														117			4		0	0	0.014758	0	0
MLL2	8085	broad.mit.edu	37	12	49425839	49425839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:49425839G>A	uc001rta.4	-	38	12649	c.12649C>T	c.(12649-12651)Cag>Tag	p.Q4217*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4217	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGCTGAGGACTTAAG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				33			21		0	0	0.008361	0	0
FLNB	2317	broad.mit.edu	37	3	58089735	58089735	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:58089735C>T	uc003djj.2	+	9	1698	c.1533C>T	c.(1531-1533)taC>taT	p.Y511Y	FLNB_uc010hne.2_Silent_p.Y511Y|FLNB_uc003djk.2_Silent_p.Y511Y|FLNB_uc010hnf.2_Silent_p.Y511Y|FLNB_uc003djl.2_Silent_p.Y342Y|FLNB_uc003djm.2_Silent_p.Y342Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	511					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGGGGTCTACGCATTCGAGT	0.542000														158			4		0	0	0.009096	0	0
NEBL	10529	broad.mit.edu	37	10	21309109	21309109	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:21309109G>A	uc001iqk.3	-	2	540	c.186C>T	c.(184-186)ttC>ttT	p.F62F	NEBL_uc021pnu.1_Silent_p.F62F	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	726					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCACCGTGGTGAAGGACTGCT	0.413000														144			8		0	0	0.006214	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528353	6528353	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:6528353C>T	uc001anp.1	-	20	3272	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.R885Q|PLEKHG5_uc001ano.1_Missense_Mutation_p.R904Q|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R409Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R688Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R917Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R848Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R848Q	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	904					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGAACTCGTGGGGACTC	0.662000														7			7		0	0	0.001984	0	0
MLH3	27030	broad.mit.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:75514890G>C	uc001xrd.1	-	1	1685	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	MLH3_uc001xre.1_Missense_Mutation_p.S490C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	490					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.S490Y(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378000								Mismatch excision repair (MMR)						190			118		0	0	0.014410	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828063	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:42828063C>T	uc002ihf.3	+	13	1503	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617000														59			57		0	0	0.014410	0	0
PRR12	57479	broad.mit.edu	37	19	50099849	50099849	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr19:50099849G>A	uc002poo.4	+	3	2257	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGGCAGGCGCCAAGGAGCT	0.692000														11			6		0	0	0.001168	0	0
CHRM2	1129	broad.mit.edu	37	7	136700056	136700056	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:136700056G>T	uc003vtf.1	+	3	1067	c.444G>T	c.(442-444)tgG>tgT	p.W148C	CHRM2_uc003vtg.1_Missense_Mutation_p.W148C|CHRM2_uc003vti.1_Missense_Mutation_p.W148C|CHRM2_uc003vtm.1_Missense_Mutation_p.W148C|CHRM2_uc003vtj.1_Missense_Mutation_p.W148C|CHRM2_uc003vtk.1_Missense_Mutation_p.W148C|CHRM2_uc003vtl.1_Missense_Mutation_p.W148C|CHRM2_uc003vtn.1_Missense_Mutation_p.W148C|CHRM2_uc003vto.1_Missense_Mutation_p.W148C|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.W148C	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	148					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCTGCCTGGGTCCTCTCTT	0.488000														99			21		2.98393e-07	3.21508e-07	0.016522	1	0
WDR41	55255	broad.mit.edu	37	5	76749713	76749713	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:76749713C>A	uc003kff.1	-	5	739	c.452G>T	c.(451-453)gGt>gTt	p.G151V	WDR41_uc011csy.1_Missense_Mutation_p.G151V|WDR41_uc011csz.1_Missense_Mutation_p.G96V|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	151										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTCATTCCCACCAGAAAGCCA	0.368000														146			7		1.06961e-07	1.16064e-07	0.003080	1	0
THRAP3	9967	broad.mit.edu	37	1	36748232	36748232	+	Missense_Mutation	SNP	G	A	A	rs148045717		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:36748232G>A	uc001cae.4	+	2	292	c.68G>A	c.(67-69)cGt>cAt	p.R23H	THRAP3_uc001caf.4_Missense_Mutation_p.R23H|THRAP3_uc001cag.1_Missense_Mutation_p.R23H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	23	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R23C(1)		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)				TCAAGATCTCGTTCTCGTTCA	0.453000			T	USP6	aneurysmal bone cysts									96			75		0	0	0.014410	0	0
C9orf24	84688	broad.mit.edu	37	9	34397497	34397497	+	Splice_Site	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr9:34397497C>T	uc003zuh.1	-	1	353	c.135_splice	c.e1+1	p.P45_splice		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	45										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCCACTTACCGGAGTCAGAA	0.522000														187			79		0	0	0.014410	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407188	117407188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr7:117407188C>G	uc003vjf.3	-	8	2913	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	941										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTCTCCTTTCTGGCTCAAGC	0.433000														180			4		0	0	0.014758	0	0
GABRB3	2562	broad.mit.edu	37	15	26793190	26793190	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:26793190G>C	uc001zbb.3	-	9	1443	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.S320*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S306*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S391*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S391*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	391					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A447D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATATTGCTGAATTCCTGGT	0.493000														127			104		0	0	0.014410	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667682	51667682	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:51667682C>T	uc011bdt.2	+	6	1040	c.915C>T	c.(913-915)caC>caT	p.H305H	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	305	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTCTGGCCCACAGCATGGGTC	0.527000														197			6		0	0	0.001168	0	0
CPXM1	56265	broad.mit.edu	37	20	2775058	2775058	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:2775058C>A	uc002wgu.3	-	13	2057	c.1983G>T	c.(1981-1983)tgG>tgT	p.W661C	CPXM1_uc010gas.3_Missense_Mutation_p.W587C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	661					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAGACGCCAATAATCCC	0.597000														61			19		1.64113e-05	1.7559e-05	0.010504	1	0
LHFPL4	375323	broad.mit.edu	37	3	9547649	9547649	+	Splice_Site	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:9547649G>A	uc003bry.3	-	3	929	c.643_splice	c.e3+1	p.D215_splice		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	215						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCACACTCGCCTTTGTTCT	0.592000														140			129		0	0	0.014410	0	0
XPR1	9213	broad.mit.edu	37	1	180849312	180849312	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:180849312G>C	uc001goi.3	+	13	2101	c.1909G>C	c.(1909-1911)Gat>Cat	p.D637H	XPR1_uc009wxn.3_Missense_Mutation_p.D572H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	637	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGAACGCAGATGATCAGAC	0.517000														83			83		0	0	0.014410	0	0
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	A	A	rs138844530	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:100623250G>A	uc002taf.3	-	5	936	c.792C>T	c.(790-792)gaC>gaT	p.D264D	AFF3_uc002tag.3_Silent_p.D239D|AFF3_uc010fiq.1_Silent_p.D239D|AFF3_uc010yvr.1_Silent_p.D393D|AFF3_uc002tah.1_Silent_p.D264D|AFF3_uc010fir.1_Silent_p.D316D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	239					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572000														50			37		0	0	0.004878	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142257	48142257	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr12:48142257G>A	uc001rpz.4	-	11	1773	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.S366F|RAPGEF3_uc009zkq.3_Missense_Mutation_p.S366F|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.S420F	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	366					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAGCACTGGAATCTGGTCC	0.547000														43			24		0	0	0.005443	0	0
ERLIN2	11160	broad.mit.edu	37	8	37597912	37597912	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:37597912G>A	uc003xke.4	+	2	252	c.137G>A	c.(136-138)gGc>gAc	p.G46D	AX747135_uc003xkb.1_5'Flank|ERLIN2_uc003xkc.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkd.3_Missense_Mutation_p.G46D|ERLIN2_uc003xkf.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkg.3_Missense_Mutation_p.G46D	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	46					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGACCAGCGGCCCTGGTTTC	0.537000														417			21		0	0	0.016522	0	0
CCNL2	81669	broad.mit.edu	37	1	1334592	1334592	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:1334592G>A	uc001afi.2	-	0	127	c.95C>T	c.(94-96)tCg>tTg	p.S32L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.S32L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	32					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCCCTGCGACCCTGAGGG	0.711000														21			21		0	0	0.010504	0	0
CACNG4	27092	broad.mit.edu	37	17	65026963	65026963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:65026963T>C	uc002jft.2	+	3	875	c.827T>C	c.(826-828)aTg>aCg	p.M276T		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	276					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAGCTGTCCATGTACACGCTG	0.647000														112			26		0	0	0.007291	0	0
ARRB1	408	broad.mit.edu	37	11	74985127	74985127	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:74985127G>C	uc001owe.2	-	10	1129	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ARRB1_uc001owf.2_Missense_Mutation_p.S302C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	302					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGGTGCTAGAGGCCAAGTT	0.602000														167			139		0	0	0.014410	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884594	29884594	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:29884594A>G	uc010vec.2	-	13	2700	c.2455T>C	c.(2455-2457)Tcc>Ccc	p.S819P	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S749P|SEZ6L2_uc002dur.4_Missense_Mutation_p.S749P|SEZ6L2_uc002duq.4_Missense_Mutation_p.S819P|SEZ6L2_uc010ved.2_Missense_Mutation_p.S775P|SEZ6L2_uc002dus.4_Missense_Mutation_p.S705P	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	819	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCACTGGGAGGGGTGGCCG	0.642000														46			5		0	0	0.013537	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:94297234G>C	uc001kia.3	-	1	248	c.172C>G	c.(172-174)Cct>Gct	p.P58A		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														111			78		0	0	0.014410	0	0
GGA2	23062	broad.mit.edu	37	16	23503028	23503028	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:23503028G>C	uc002dlq.3	-	4	528	c.445C>G	c.(445-447)Cga>Gga	p.R149G	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	149	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R149*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TAAGCGTCTCGAATCTTGATG	0.443000														333			8		0	0	0.004482	0	0
PARP3	10039	broad.mit.edu	37	3	51979556	51979556	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:51979556G>C	uc003dby.3	+	6	1278	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	PARP3_uc003dbz.3_Missense_Mutation_p.E310Q	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	303					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCAGTCTCTGAGCAGGAGAA	0.622000														99			3		0	0	0.004672	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439254	14439254	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr21:14439254G>A	uc002yja.4	+	9		c.2772G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AGGAAAAATCGAAGAGCAACA	0.303000														24			12		0	0	0.001855	0	0
OR4S2	219431	broad.mit.edu	37	11	55418712	55418712	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:55418712C>T	uc001nhs.1	+	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGAGATCTTCATCCTTACTG	0.403000														541			17		0	0	0.007413	0	0
BRD2	6046	broad.mit.edu	37	6	32945959	32945959	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:32945959C>G	uc010juh.3	+	8	2939	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P	BRD2_uc003ocn.4_Silent_p.P545P|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.P425P|BRD2_uc003ocq.4_Silent_p.P545P|BRD2_uc021ywf.1_Silent_p.P498P	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	545	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TATCCAAGCCCAAGAGGAAAA	0.463000														48			33		0	0	0.012213	0	0
ADCY3	109	broad.mit.edu	37	2	25057766	25057766	+	Missense_Mutation	SNP	G	A	A	rs142082596	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr2:25057766G>A	uc010ykm.2	-	8	1901	c.1702C>T	c.(1702-1704)Cgc>Tgc	p.R568C	ADCY3_uc002rfr.4_Missense_Mutation_p.R201C|ADCY3_uc002rfs.4_Missense_Mutation_p.R568C	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	568					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCCTGCAGGCGCAGCCTCCGG	0.652000														40			3		0	0	0.004672	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407208	62407208	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr20:62407208G>A	uc002ygv.2	-	2	1246	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGAGGGCCCAGATAGCTGGCT	0.662000														97			85		0	0	0.014410	0	0
WDR59	79726	broad.mit.edu	37	16	74990405	74990405	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr16:74990405G>A	uc002fdh.1	-	2	310	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	WDR59_uc002fdi.3_Missense_Mutation_p.H70Y|WDR59_uc021tli.1_Missense_Mutation_p.H49Y	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	70										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGCTGTCATGAGGATTCCAC	0.468000														74			40		0	0	0.006230	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667829	49667829	+	Missense_Mutation	SNP	C	T	T	rs75710233	byFrequency	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:49667829C>T	uc001jgu.3	-	4	902	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R96H|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R186H|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R143H|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R192H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	186	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGAGCCCGCGCTCCCGGAT	0.642000														124			48		0	0	0.014410	0	0
GRHL2	79977	broad.mit.edu	37	8	102631907	102631907	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:102631907C>G	uc010mbu.3	+	8	1569	c.1239C>G	c.(1237-1239)atC>atG	p.I413M		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	413						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATTGCCAGATCAAGGTCTTCT	0.338000														224			6		0	0	0.003080	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391505	102391505	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:102391505C>G	uc001yko.3	+	13	1611	c.1471C>G	c.(1471-1473)Cct>Gct	p.P491A	PPP2R5C_uc010txr.2_Missense_Mutation_p.P522A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.P507A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.P452A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	491					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R490C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGGACCGTCCTCTTGCACG	0.552000														374			6		0	0	0.001984	0	0
SGMS1	259230	broad.mit.edu	37	10	52071078	52071078	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr10:52071078T>C	uc001jje.3	-	8	1793	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	SGMS1_uc010qhk.2_Missense_Mutation_p.Y111C|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_3'UTR	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	286					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGTACAGATAGTCCCCACA	0.453000														58			51		0	0	0.014410	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296712	25296712	+	RNA	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr15:25296712G>C	uc001yxg.3	+	0		c.90G>C								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		CATCGGAACTGAGGTCCAGCA	0.473000														91			81		0	0	0.014410	0	0
CLINT1	9685	broad.mit.edu	37	5	157240138	157240138	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr5:157240138C>G	uc003lxj.2	-	4	655	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CLINT1_uc003lxi.2_Missense_Mutation_p.K132N|CLINT1_uc011ddv.2_Missense_Mutation_p.K150N	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	150					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTGCTTTCTTTCGCTCTT	0.423000														73			70		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57004337	57004337	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:57004337G>C	uc001njo.3	-	0	591	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	48						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGAGCACCAGACCGTTGCCC	0.592000														72			62		0	0	0.014410	0	0
HECW1	23072	broad.mit.edu	37	7	43519234	43519234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:43519234G>C	uc003tid.1	+	16	3730	c.3125G>C	c.(3124-3126)cGa>cCa	p.R1042P	HECW1_uc011kbi.1_Missense_Mutation_p.R1008P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1042	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAACAGTCGAGCTACCACT	0.493000														302			4		0	0	0.014758	0	0
ITGAE	3682	broad.mit.edu	37	17	3659152	3659152	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:3659152A>T	uc002fwo.4	-	10	1310	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	404					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAAGCCAATCTGTGCCAG	0.592000														12			3		0	0	0.009096	0	0
FGFR3	2261	broad.mit.edu	37	4	1803584	1803584	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:1803584C>A	uc003gdr.3	+	6	1018	c.762C>A	c.(760-762)atC>atA	p.I254I	FGFR3_uc003gdu.2_Silent_p.I254I|FGFR3_uc003gds.3_Silent_p.I254I|FGFR3_uc003gdq.3_Silent_p.I254I|FGFR3_uc010icb.1_Silent_p.I96I|FGFR3_uc003gdt.1_Silent_p.I96I	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	254	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACCGGCCCATCCTGCAGGCGG	0.731000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					14			10		4.72057e-08	5.52482e-08	0.021523	1	0
MS4A15	219995	broad.mit.edu	37	11	60540926	60540926	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:60540926T>A	uc009ynf.1	+	4	687	c.467T>A	c.(466-468)aTt>aAt	p.I156N	MS4A15_uc001npx.2_Missense_Mutation_p.I63N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.I115N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	156						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGGACAGCCATTCTGCTCATG	0.572000														22			27		0	0	0.019004	0	0
EFHB	151651	broad.mit.edu	37	3	19925989	19925989	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:19925989G>C	uc003cbl.4	-	10	2248	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	EFHB_uc003cbm.3_Silent_p.L554L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	684					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAAGTGTCCGGAGAGTCTTTT	0.393000														90			64		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39910503	39910503	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:39910503G>C	uc021olw.1	+	44	14930	c.14930G>C	c.(14929-14931)aGa>aCa	p.R4977T	MACF1_uc021ols.1_Missense_Mutation_p.R4472T|MACF1_uc021olt.1_Missense_Mutation_p.R4475T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6542					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAAGAAAGAAAGGTACAG	0.418000														32			33		0	0	0.015359	0	0
OBSL1	23363	broad.mit.edu	37	2	220420911	220420911	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:220420911G>A	uc010fwk.3	-	13	4754	c.4440C>T	c.(4438-4440)gcC>gcT	p.A1480A	OBSL1_uc002vmh.1_Silent_p.A379A|OBSL1_uc010zli.1_Silent_p.A287A|OBSL1_uc010fwl.2_Silent_p.A1480A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1480	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCAGCGCACGGCCCCCGCTG	0.657000														13			4		0	0	0.021553	0	0
APBA2	321	broad.mit.edu	37	15	29368274	29368274	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:29368274C>A	uc001zck.3	+	4	1253	c.1049C>A	c.(1048-1050)tCa>tAa	p.S350*	APBA2_uc010azj.2_Nonsense_Mutation_p.S350*|APBA2_uc010uat.2_Nonsense_Mutation_p.S350*|APBA2_uc001zcl.3_Nonsense_Mutation_p.S350*|APBA2_uc001zcm.1_Nonsense_Mutation_p.S54*	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	350					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAGGTGGCATCATTTCCAAGT	0.373000														322			9		0.00185496	0.00206397	0.016723	1	0
LRRN2	10446	broad.mit.edu	37	1	204587907	204587907	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:204587907C>T	uc021phy.1	-	0	1214	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R405H|LRRN2_uc001hbf.1_Missense_Mutation_p.R405H|LRRN2_uc009xbf.1_Missense_Mutation_p.R405H|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	405	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACCGGGAGGCGCTGGAGGTC	0.662000														78			7		0	0	0.008291	0	0
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:128363345C>T	uc003vno.1	+	3	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_uc010llo.1_Missense_Mutation_p.A162V|FAM71F1_uc011koq.1_Missense_Mutation_p.A153V|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.A162V|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Missense_Mutation_p.A261V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	261								p.A261V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502000														233			5		0	0	0.021553	0	0
KRT13	3860	broad.mit.edu	37	17	39659037	39659037	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:39659037T>A	uc002hwu.1	-	4	988	c.925A>T	c.(925-927)Acc>Tcc	p.T309S	KRT13_uc002hwv.1_Missense_Mutation_p.T309S|KRT13_uc010wfr.2_Missense_Mutation_p.T202S|KRT13_uc010cxo.3_Missense_Mutation_p.T309S|KRT13_uc021txk.1_Missense_Mutation_p.T202S	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	309	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGTGTTGGTAGACACCTCC	0.577000														254			212		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725009	140725009	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:140725009C>T	uc003ljm.2	+	0	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S470F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTCTCA	0.547000														126			150		0	0	0.014410	0	0
STARD10	10809	broad.mit.edu	37	11	72470333	72470333	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:72470333C>G	uc001osy.3	-	2	485	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.E101Q|STARD10_uc001ota.3_Missense_Mutation_p.E55Q|STARD10_uc001otb.3_Missense_Mutation_p.E101Q	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	101	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCAAAAGTCTCAATGACGTTG	0.562000														70			47		0	0	0.014410	0	0
PICK1	9463	broad.mit.edu	37	22	38470965	38470965	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:38470965C>G	uc003auq.3	+	12	1464	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	PICK1_uc003aur.3_Missense_Mutation_p.F358L|PICK1_uc003aus.3_Missense_Mutation_p.F358L|PICK1_uc003aut.3_Missense_Mutation_p.F358L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	358					DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGACGTCTTCCCCATCGAGG	0.607000														38			23		0	0	0.024334	0	0
MLL2	8085	broad.mit.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:49426526G>A	uc001rta.4	-	38	11962	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3718*(1)|p.G3988fs*20(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTTGTTGCTGAGGAGACAGT	0.532000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			16		0	0	0.024245	0	0
MB	4151	broad.mit.edu	37	22	36013290	36013290	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:36013290G>A	uc003anz.3	-	0	95	c.15C>T	c.(13-15)gaC>gaT	p.D5D	MB_uc003aoa.3_Silent_p.D5D|MB_uc003aob.3_Silent_p.D5D	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	5							heme binding|oxygen transporter activity			lung(1)	1						GCCATTCCCCGTCGCTGAGCC	0.577000														137			4		0	0	0.001984	0	0
RIC8A	60626	broad.mit.edu	37	11	209483	209483	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:209483T>A	uc001lof.3	+	2	534	c.209T>A	c.(208-210)gTc>gAc	p.V70D	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.V70D|RIC8A_uc001loh.3_Missense_Mutation_p.V63D	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	70						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCAGAGTGTCCGAATCCTG	0.642000														109			33		0	0	0.009718	0	0
TEX2	55852	broad.mit.edu	37	17	62238165	62238165	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:62238165C>G	uc002jed.3	-	7	2972	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q	TEX2_uc002jec.3_Missense_Mutation_p.E934Q|TEX2_uc002jee.3_Missense_Mutation_p.E934Q	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTTACCCTTCTTTGCCAATT	0.463000														239			577		0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542000														37			23		0	0	0.014410	0	0
CYP2S1	29785	broad.mit.edu	37	19	41709523	41709523	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:41709523G>A	uc002opw.3	+	6	1200	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	CYP2S1_uc010xvx.2_Missense_Mutation_p.R107Q	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	382					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						ACCCGCTTCCGAGGGTACACC	0.667000														5			4		0	0	0.014758	0	0
VLDLR	7436	broad.mit.edu	37	9	2651933	2651933	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:2651933G>A	uc003zhk.1	+	16	2792	c.2395G>A	c.(2395-2397)Gca>Aca	p.A799T	VLDLR_uc003zhl.1_Missense_Mutation_p.A771T|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	799					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.A799T(2)|p.A798A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTTCTGCCGCATGGGCCAT	0.433000														73			32		0	0	0.015359	0	0
VWCE	220001	broad.mit.edu	37	11	61026184	61026184	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:61026184G>A	uc001nra.3	-	19	3110	c.2831C>T	c.(2830-2832)cCa>cTa	p.P944L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	944						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCCACTGGGGGCTGCTG	0.662000														164			41		0	0	0.014410	0	0
PARVB	29780	broad.mit.edu	37	22	44564537	44564537	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:44564537C>T	uc003bem.3	+	13	1303	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	PARVB_uc003ben.3_Silent_p.T358T|PARVB_uc010gzn.3_Silent_p.T283T|PARVB_uc003beo.3_Silent_p.T321T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	358					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ACCTGTTCACCAAGTACAAGA	0.552000														111			8		0	0	0.004482	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010706	85010706	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:85010706C>T	uc010voi.1	-	7	1209	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZDHHC7_uc002fiq.2_Missense_Mutation_p.E249K|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	249						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CTTACCGTCTCGTCGTTGCAT	0.448000														156			128		0	0	0.014410	0	0
FKBP3	2287	broad.mit.edu	37	14	45603575	45603575	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:45603575G>A	uc010tqf.2	-	0	435	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	29					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TGTTCCTGCAGAAACTTGATA	0.652000														110			80		0	0	0.014410	0	0
CTCFL	140690	broad.mit.edu	37	20	56090811	56090811	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:56090811C>G	uc010giw.1	-	5	1250	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	CTCFL_uc010gix.1_Missense_Mutation_p.R380T|CTCFL_uc002xym.2_Missense_Mutation_p.R380T|CTCFL_uc010gjb.1_Missense_Mutation_p.R380T|CTCFL_uc010gja.1_Missense_Mutation_p.R380T|CTCFL_uc010gjc.1_Missense_Mutation_p.R380T|CTCFL_uc010gjd.1_Missense_Mutation_p.R380T|CTCFL_uc010gje.3_Missense_Mutation_p.R380T|CTCFL_uc010gjg.3_Missense_Mutation_p.R112T|CTCFL_uc010gjf.3_Missense_Mutation_p.R175T|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.R175T|CTCFL_uc010gjj.2_Missense_Mutation_p.R380T|CTCFL_uc021wfe.1_Missense_Mutation_p.R380T|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R112T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	380					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTAGGTATCTCTGCTGGCATA	0.483000														343			226		0	0	0.014410	0	0
FLT4	2324	broad.mit.edu	37	5	180048230	180048230	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:180048230C>T	uc003mlz.4	-	13	2122	c.2043G>A	c.(2041-2043)acG>acA	p.T681T	FLT4_uc003mma.4_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.2_Silent_p.T681T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	681	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637000														45			53		0	0	0.014410	0	0
MLL3	58508	broad.mit.edu	37	7	151879016	151879016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:151879016G>A	uc003wla.3	-	35	6148	c.5929C>T	c.(5929-5931)Caa>Taa	p.Q1977*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q1038*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1977	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGGAAATTGATCTGTCATC	0.458000			N		medulloblastoma									563			87		0	0	0.014410	0	0
DMXL2	23312	broad.mit.edu	37	15	51857284	51857284	+	Splice_Site	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:51857284C>A	uc010ufy.2	-	4	589	c.364_splice	c.e4+1	p.D122_splice	DMXL2_uc002abf.3_Splice_Site_p.D122_splice|DMXL2_uc010bfa.3_Splice_Site_p.D122_splice	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	122						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)		TTGCTAAATACCTTGAGGATC	0.294000														9			6		3.59834e-05	4.09019e-05	0.021553	1	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	G	G	rs121913483		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:1803568C>G	uc003gdr.3	+	6	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(2834)|p.R248C(362)|p.R248_S249del(2)|p.R248_S249insC(2)|p.S249T(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					16			10		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811015	140811015	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:140811015T>C	uc003lkt.2	+	0	858	c.689T>C	c.(688-690)gTg>gCg	p.V230A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.V230A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCCGCGTGATGGTTCTG	0.657000														78			57		0	0	0.014410	0	0
OR14J1	442191	broad.mit.edu	37	6	29274483	29274483	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:29274483C>T	uc011dln.2	+	0	17	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATTTGACTTCAATGAGTGGA	0.403000														41			41		0	0	0.009718	0	0
NBPF14	25832	broad.mit.edu	37	1	148025829	148025829	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:148025829C>T	uc001eqq.3	-	0	35	c.3G>A	c.(1-3)atG>atA	p.M1I	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Missense_Mutation_p.M341I|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	1						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATTCCTCAGCATAGATTTTA	0.532000														459			135		0	0	0.014410	0	0
ST7L	54879	broad.mit.edu	37	1	113126670	113126670	+	Silent	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:113126670T>C	uc001ecd.3	-	6	1085	c.780A>G	c.(778-780)gcA>gcG	p.A260A	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.A77A|ST7L_uc010owg.2_Silent_p.A195A|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.A243A|ST7L_uc001ece.3_Silent_p.A260A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A195A|ST7L_uc001ech.3_Silent_p.A243A|ST7L_uc001eci.3_Silent_p.A260A|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.A243A	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	260					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTTGAGTGCCTGTTTAA	0.433000														75			75		0	0	0.014410	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396007	38396007	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:38396007C>T	uc022bgy.1	+	0	262	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R88C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	88					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAGCCTTCCGCCTGGGGTC	0.677000														257			21		0	0	0.010504	0	0
BMP2K	55589	broad.mit.edu	37	4	79832652	79832652	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:79832652G>A	uc003hlk.3	+	15	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'UTR	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	984						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502000														122			4		0	0	0.014758	0	0
NEB	4703	broad.mit.edu	37	2	152397247	152397247	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:152397247C>T	uc021vrb.1	-	107	15677	c.15648G>A	c.(15646-15648)ttG>ttA	p.L5216L	NEB_uc002txr.3_Silent_p.L1682L|NEB_uc002txu.3_Silent_p.L6917L|NEB_uc021vrc.1_Silent_p.L6917L|NEB_uc010fnx.3_Silent_p.L5204L|NEB_uc021vrd.1_Silent_p.L5216L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5216					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATGCTTCAAGGCTGTGG	0.433000														87			10		0	0	0.020292	0	0
UNC5C	8633	broad.mit.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:96127913G>T	uc003hto.3	-	10	2121	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T	UNC5C_uc010ilc.2_Missense_Mutation_p.P609T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	590	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P590T(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537000														96			20		4.35082e-09	5.16864e-09	0.010504	1	0
ATP1A1	476	broad.mit.edu	37	1	116931284	116931284	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:116931284G>A	uc001ege.3	+	5	865	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ATP1A1_uc010owv.1_Missense_Mutation_p.E145K|ATP1A1_uc010oww.2_Missense_Mutation_p.E176K|ATP1A1_uc010owx.2_Missense_Mutation_p.E145K	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	176					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCGAAATGGTGAGAAAATGAG	0.398000														115			86		0	0	0.014410	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679695	160679695	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:160679695G>T	uc003qtf.3	-	0	269	c.95C>A	c.(94-96)aCc>aAc	p.T32N	SLC22A2_uc003qth.2_Missense_Mutation_p.T32N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	32					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGGCGCGAAGGTAGCCGAGAG	0.612000														94			6		4.68919e-08	5.52482e-08	0.008291	1	0
ARRB1	408	broad.mit.edu	37	11	74985127	74985127	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:74985127G>C	uc001owe.2	-	10	1129	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ARRB1_uc001owf.2_Missense_Mutation_p.S302C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	302					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGGTGCTAGAGGCCAAGTT	0.602000														212			180		0	0	0.014410	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372582	151372582	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:151372582C>G	uc003wkk.3	-	3	1219	c.608G>C	c.(607-609)aGg>aCg	p.R203T	PRKAG2_uc011kvl.2_Missense_Mutation_p.R79T|PRKAG2_uc003wkj.3_Missense_Mutation_p.R159T|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.R203T	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	203					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGGCAGAACCTCTGCCCTGT	0.587000														59			50		0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28660162	28660162	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr18:28660162G>C	uc002kwl.4	-	9	1874	c.1420C>G	c.(1420-1422)Cca>Gca	p.P474A	DSC2_uc002kwk.4_Missense_Mutation_p.P474A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	474	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P473T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTGTATTGGAGGGTTACAC	0.443000														125			154		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:130287049G>A	uc010htl.3	+	4	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(2)|p.S667S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423000														153			114		0	0	0.014410	0	0
CCNL2	81669	broad.mit.edu	37	1	1334456	1334456	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:1334456G>A	uc001afi.2	-	0	263	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Silent_p.L77L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	77					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCACCACGCGGAGGTCGGTCT	0.692000														34			17		0	0	0.016522	0	0
BRD2	6046	broad.mit.edu	37	6	32947799	32947799	+	Nonsense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:32947799C>G	uc010juh.3	+	10	3445	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	BRD2_uc003ocn.4_Nonsense_Mutation_p.S679*|BRD2_uc003ocp.4_Nonsense_Mutation_p.S559*|BRD2_uc003ocq.4_Nonsense_Mutation_p.S679*|BRD2_uc021ywf.1_Nonsense_Mutation_p.S632*	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	679	ET.		P -> L (in a glioblastoma multiforme sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.P714L(1)		central_nervous_system(3)|stomach(2)	5						TTACGTGATTCAAACCCAGAA	0.498000														68			46		0	0	0.011902	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327895	104327895	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:104327895G>C	uc001tkb.1	+	4	678	c.573G>C	c.(571-573)ttG>ttC	p.L191F	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.L191F	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	191					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAATTGATTGGCCAGT	0.428000														190			6		0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	95019965	95019965	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:95019965C>A	uc002btj.3	+	20	2576	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	MCTP2_uc010boj.3_Silent_p.S566S|MCTP2_uc010bok.3_Silent_p.S782S|MCTP2_uc002btl.3_Silent_p.S425S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	837					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCCCTATTCCATCGACAATA	0.383000														192			6		2.0095e-06	2.30073e-06	0.001984	1	0
HNF4A	3172	broad.mit.edu	37	20	43048484	43048484	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:43048484C>T	uc002xma.3	+	6	949	c.860C>T	c.(859-861)gCc>gTc	p.A287V	HNF4A_uc002xlt.3_Missense_Mutation_p.A265V|HNF4A_uc002xlu.3_Missense_Mutation_p.A265V|HNF4A_uc002xlv.3_Missense_Mutation_p.A265V|HNF4A_uc002xly.3_Missense_Mutation_p.A287V|HNF4A_uc010ggq.3_Missense_Mutation_p.A280V|HNF4A_uc002xlz.3_Missense_Mutation_p.A287V	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	287					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGAGTATGCCTACCTCAAA	0.557000														234			5		0	0	0.021553	0	0
CCDC108	255101	broad.mit.edu	37	2	219886640	219886640	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:219886640C>T	uc002vjl.1	-	17	3076	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	998						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCAGCTCCTTTTCCTTT	0.597000														79			120		0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888030	205888030	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:205888030C>T	uc001hdp.3	-	18	2308	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	SLC26A9_uc001hdm.3_5'Flank|SLC26A9_uc001hdn.3_5'Flank|SLC26A9_uc001hdo.3_Missense_Mutation_p.D400N|SLC26A9_uc001hdq.3_Missense_Mutation_p.D732N	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGACTGCGTCATGTATGCTG	0.517000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		347			288		0	0	0.014410	0	0
TDRD10	126668	broad.mit.edu	37	1	154493835	154493835	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:154493835G>A	uc009wow.3	+	5	1087	c.249G>A	c.(247-249)gtG>gtA	p.V83V	TDRD10_uc001ffd.3_Silent_p.V83V|TDRD10_uc001ffe.3_Silent_p.V4V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	83	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGAAAGTGACACTTGCAA	0.502000														331			58		0	0	0.014410	0	0
IFIH1	64135	broad.mit.edu	37	2	163174420	163174420	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:163174420T>A	uc002uce.3	-	0	620	c.398A>T	c.(397-399)gAc>gTc	p.D133V	IFIH1_uc002ucf.3_Missense_Mutation_p.D133V	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	133	CARD 2.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATCCAAGACGTCTCTAACTAG	0.483000														756			14		0	0	0.028581	0	0
CELSR1	9620	broad.mit.edu	37	22	46930992	46930992	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:46930992G>A	uc003bhw.1	-	0	2076	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	692	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGAAGCTCGTAGGTGGGCT	0.642000														28			12		0	0	0.013537	0	0
PRR12	57479	broad.mit.edu	37	19	50099849	50099849	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:50099849G>A	uc002poo.4	+	3	2257	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGGCAGGCGCCAAGGAGCT	0.692000														11			11		0	0	0.008291	0	0
ST18	9705	broad.mit.edu	37	8	53028901	53028901	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:53028901C>T	uc003xqz.2	-	19	3093	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ST18_uc011ldq.1_Silent_p.L626L|ST18_uc011ldr.1_Silent_p.L944L|ST18_uc011lds.1_Silent_p.L884L|ST18_uc003xra.2_Silent_p.L979L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	979						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCTCTTTCAGCAGACTTT	0.433000														60			70		0	0	0.014410	0	0
EYS	346007	broad.mit.edu	37	6	66204905	66204905	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:66204905C>T	uc011dxu.1	-	3	937	c.399G>A	c.(397-399)atG>atA	p.M133I	EYS_uc003peq.3_Missense_Mutation_p.M133I|EYS_uc003per.1_Missense_Mutation_p.M133I|EYS_uc021zbn.1_Missense_Mutation_p.M133I|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	133					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAACAGTGTGCATTCCTTTTA	0.393000														115			4		0	0	0.021553	0	0
C19orf21	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:757669C>T	uc002lpo.3	+	1	806	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	241										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGCCAACGGGCACGTGG	0.672000														24			30		0	0	0.010818	0	0
SPATA20	64847	broad.mit.edu	37	17	48628090	48628090	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48628090G>A	uc002ird.3	+	10	1336	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SPATA20_uc002irc.3_Missense_Mutation_p.E50K|SPATA20_uc002ire.3_Missense_Mutation_p.E339K|SPATA20_uc002irf.3_Missense_Mutation_p.E383K|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	383					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTATAGCGCAGAAGATGCAGA	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			168		0	0	0.014410	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256349	69256349	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:69256349C>G	uc021rve.1	-	2	1219	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	ZFP36L1_uc001xki.2_Silent_p.L306L|ZFP36L1_uc001xkh.2_Silent_p.L306L	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	306					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCTGCTCAGGTAGCCCT	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			89		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103138606	103138606	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:103138606G>C	uc022ajr.1	-	53	8921	c.8761C>G	c.(8761-8763)Ctt>Gtt	p.L2921V	RELN_uc022ajq.1_Missense_Mutation_p.L2921V|RELN_uc010liz.3_Missense_Mutation_p.L2921V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2921					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTCGGCAAGAATTCCACAC	0.433000														185			3		0	0	0.004672	0	0
TYRP1	7306	broad.mit.edu	37	9	12704628	12704628	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:12704628C>A	uc003zkv.4	+	5	1362	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	395				PN -> SQ (in Ref. 7; CAA35820).	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CATTTGTCTCCAAATGATCCT	0.443000									Oculocutaneous Albinism					74			34		3.90053e-15	4.77739e-15	0.012213	1	0
SPATA20	64847	broad.mit.edu	37	17	48628385	48628385	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48628385G>A	uc002ird.3	+	11	1551	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SPATA20_uc002irc.3_Silent_p.Q121Q|SPATA20_uc002ire.3_Silent_p.Q410Q|SPATA20_uc002irf.3_Silent_p.Q454Q|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	454					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGGGCCAGAATGTGCTGA	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			58		0	0	0.014410	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48615544G>A	uc010wms.2	+	3	1020	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPN3_uc002ira.4_Missense_Mutation_p.E223K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E223K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667000														23			16		0	0	0.016522	0	0
INSM2	84684	broad.mit.edu	37	14	36005048	36005048	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:36005048C>T	uc001wth.1	+	0	1801	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAAGCACTGCCCGTCCACTT	0.627000														102			21		0	0	0.010504	0	0
ETAA1	54465	broad.mit.edu	37	2	67631299	67631299	+	Silent	SNP	A	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:67631299A>G	uc002sdz.1	+	4	1624	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	495						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACGAAATTCAAAATTGTATAG	0.279000														11			4		0	0	0.009096	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722582	122722582	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:122722582G>A	uc003iea.3	+	0	111	c.3G>A	c.(1-3)atG>atA	p.M1I	EXOSC9_uc003idz.3_Missense_Mutation_p.M1I|EXOSC9_uc003ieb.3_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	1	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCAACACCATGAAGGAAACGC	0.607000														94			74		0	0	0.014410	0	0
STAG2	10735	broad.mit.edu	37	X	123176469	123176469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chrX:123176469C>T	uc004eua.3	+	6	840	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STAG2_uc004etz.4_Nonsense_Mutation_p.R146*|STAG2_uc004eub.3_Nonsense_Mutation_p.R146*|STAG2_uc004euc.3_Nonsense_Mutation_p.R146*|STAG2_uc004eud.3_Nonsense_Mutation_p.R146*|STAG2_uc004eue.3_Nonsense_Mutation_p.R146*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGATAATTCGAAAAATGAC	0.284000														4			71		0	0	0.014410	0	0
IL9R	3581	broad.mit.edu	37	X	155232601	155232601	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chrX:155232601G>A	uc004fnv.1	+	1	238	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.R67Q	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	20					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTGAGGCGAGACATGGGC	0.612000														136			131		0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854436	12854436	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:12854436G>C	uc001auj.2	+	2	763	c.660G>C	c.(658-660)ctG>ctC	p.L220L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	220										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACGTCTGATAAGAAAGC	0.393000														351			327		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53028912	53028912	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:53028912C>T	uc003xqz.2	-	19	3082	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	ST18_uc011ldq.1_Missense_Mutation_p.E623K|ST18_uc011ldr.1_Missense_Mutation_p.E941K|ST18_uc011lds.1_Missense_Mutation_p.E881K|ST18_uc003xra.2_Missense_Mutation_p.E976K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGACTTTCATTGTTCTGT	0.438000														62			61		0	0	0.014410	0	0
SDF4	51150	broad.mit.edu	37	1	1153925	1153925	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:1153925G>A	uc001adh.4	-	5	1154	c.825C>T	c.(823-825)gaC>gaT	p.D275D	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_Silent_p.D275D|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	275					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCCAGTTGTCGTCAATGTCCT	0.607000														173			8		0	0	0.004482	0	0
LMTK3	114783	broad.mit.edu	37	19	49001422	49001422	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:49001422C>A	uc002pjk.3	-	11	2991	c.2991G>T	c.(2989-2991)agG>agT	p.R997S		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCCTCCCTCCTTGGGGGTG	0.647000														295			12		2.27111e-07	2.6385e-07	0.013537	1	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:7579415C>T	uc002gim.2	-	3	466	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.3_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(21)|p.0?(8)|p.S90fs*33(4)|p.A76_S90del15(3)|p.G59fs*23(3)|p.W91fs*13(2)|p.S90fs*59(2)|p.V73fs*9(1)|p.S90F(1)|p.D48fs*55(1)|p.W91fs*32(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACAGGGGCCAGGAGGGGGC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				134			15		0	0	0.008871	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249777	79249777	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:79249777C>T	uc002jzz.1	-	7	1279	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E220K|SLC38A10_uc002kab.3_Missense_Mutation_p.E302K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	302					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGCTGCTCACACAGCAGC	0.597000														309			81		0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46712115	46712115	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:46712115C>T	uc011aqy.2	+	6	1450	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	GTSE1_uc011aqz.2_Missense_Mutation_p.P260L|GTSE1_uc003bhl.1_Missense_Mutation_p.P38L|GTSE1_uc003bhm.1_Missense_Mutation_p.P38L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCACGGCACCCCCCTCAGCA	0.627000														133			5		0	0	0.014758	0	0
NBPF14	25832	broad.mit.edu	37	1	148025786	148025786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:148025786G>A	uc001eqq.3	-	0	78	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Nonsense_Mutation_p.Q356*|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	16						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTTGAGCTGCTCTGCAAGC	0.527000														323			81		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49425839	49425839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:49425839G>A	uc001rta.4	-	38	12649	c.12649C>T	c.(12649-12651)Cag>Tag	p.Q4217*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4217	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGCTGAGGACTTAAG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				40			22		0	0	0.012213	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	T	T	rs144465613	byFrequency	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:23887583C>T	uc001wjx.3	-	29	4111	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(6)|p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000														96			4		0	0	0.001984	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528353	6528353	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:6528353C>T	uc001anp.1	-	20	3272	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.R885Q|PLEKHG5_uc001ano.1_Missense_Mutation_p.R904Q|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R409Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R688Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R917Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R848Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R848Q	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	904					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGAACTCGTGGGGACTC	0.662000														12			9		0	0	0.004482	0	0
MLH3	27030	broad.mit.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:75514890G>C	uc001xrd.1	-	1	1685	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	MLH3_uc001xre.1_Missense_Mutation_p.S490C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	490					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.S490Y(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378000								Mismatch excision repair (MMR)						93			60		0	0	0.014410	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828063	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:42828063C>T	uc002ihf.3	+	13	1503	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617000														80			59		0	0	0.014410	0	0
FGFR3	2261	broad.mit.edu	37	4	1803749	1803749	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:1803749C>T	uc003gdr.3	+	6	1183	c.927C>T	c.(925-927)ctC>ctT	p.L309L	FGFR3_uc003gdu.2_Silent_p.L309L|FGFR3_uc003gds.3_Silent_p.L309L|FGFR3_uc003gdq.3_Silent_p.L309L|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	309	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TTACCGTGCTCAAGGTGGGCC	0.662000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					10			11		0	0	0.016723	0	0
CHRM2	1129	broad.mit.edu	37	7	136700056	136700056	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:136700056G>T	uc003vtf.1	+	3	1067	c.444G>T	c.(442-444)tgG>tgT	p.W148C	CHRM2_uc003vtg.1_Missense_Mutation_p.W148C|CHRM2_uc003vti.1_Missense_Mutation_p.W148C|CHRM2_uc003vtm.1_Missense_Mutation_p.W148C|CHRM2_uc003vtj.1_Missense_Mutation_p.W148C|CHRM2_uc003vtk.1_Missense_Mutation_p.W148C|CHRM2_uc003vtl.1_Missense_Mutation_p.W148C|CHRM2_uc003vtn.1_Missense_Mutation_p.W148C|CHRM2_uc003vto.1_Missense_Mutation_p.W148C|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.W148C	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	148					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCTGCCTGGGTCCTCTCTT	0.488000														65			8		7.48243e-07	8.62937e-07	0.006214	1	0
MCTP2	55784	broad.mit.edu	37	15	95019963	95019963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:95019963T>C	uc002btj.3	+	20	2574	c.2509T>C	c.(2509-2511)Tcc>Ccc	p.S837P	MCTP2_uc010boj.3_Missense_Mutation_p.S566P|MCTP2_uc010bok.3_Missense_Mutation_p.S782P|MCTP2_uc002btl.3_Missense_Mutation_p.S425P	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	837					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAATCCCTATTCCATCGACAA	0.388000														187			6		0	0	0.001984	0	0
THRAP3	9967	broad.mit.edu	37	1	36748232	36748232	+	Missense_Mutation	SNP	G	A	A	rs148045717		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:36748232G>A	uc001cae.4	+	2	292	c.68G>A	c.(67-69)cGt>cAt	p.R23H	THRAP3_uc001caf.4_Missense_Mutation_p.R23H|THRAP3_uc001cag.1_Missense_Mutation_p.R23H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	23	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R23C(1)		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)				TCAAGATCTCGTTCTCGTTCA	0.453000			T	USP6	aneurysmal bone cysts									86			77		0	0	0.014410	0	0
CUL7	9820	broad.mit.edu	37	6	43013806	43013806	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:43013806C>T	uc003otq.3	-	12	3016	c.2684G>A	c.(2683-2685)aGt>aAt	p.S895N	CUL7_uc010jyg.3_Missense_Mutation_p.S174N|CUL7_uc011dvb.2_Missense_Mutation_p.S979N|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	895	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGAGTCCTCACTAGCCACAAG	0.592000														22			4		0	0	0.024334	0	0
C9orf24	84688	broad.mit.edu	37	9	34397497	34397497	+	Splice_Site	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:34397497C>T	uc003zuh.1	-	1	353	c.135_splice	c.e1+1	p.P45_splice		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	45										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCCACTTACCGGAGTCAGAA	0.522000														208			90		0	0	0.014410	0	0
MKL1	57591	broad.mit.edu	37	22	40814967	40814967	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:40814967G>A	uc003ayv.1	-	8	1682	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	MKL1_uc010gyf.1_Missense_Mutation_p.S442L|MKL1_uc003ayw.1_Missense_Mutation_p.S492L|MKL1_uc010gye.1_Missense_Mutation_p.S492L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	492					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.S492S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCAGTGGCGAGGCCTGCAG	0.677000			T	RBM15	acute megakaryocytic leukemia									54			18		0	0	0.007413	0	0
DBN1	1627	broad.mit.edu	37	5	176895847	176895847	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:176895847C>G	uc003mgx.2	-	2	428	c.146G>C	c.(145-147)gGa>gCa	p.G49A	DBN1_uc003mgy.2_Missense_Mutation_p.G47A|DBN1_uc010jkn.1_5'UTR|DBN1_uc003mgz.1_5'UTR	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	47	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTCCTACCTCCTGATGCTGC	0.612000														158			5		0	0	0.003080	0	0
NSD1	64324	broad.mit.edu	37	5	176710832	176710832	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:176710832C>G	uc003mfr.4	+	19	6192	c.6054C>G	c.(6052-6054)ttC>ttG	p.F2018L	NSD1_uc003mft.4_Missense_Mutation_p.F1749L|NSD1_uc011dfx.2_Missense_Mutation_p.F1666L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2018	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCTCGGTTCATGAATCATT	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				148			3		0	0	0.004672	0	0
LMTK3	114783	broad.mit.edu	37	19	49001524	49001524	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:49001524C>G	uc002pjk.3	-	11	2889	c.2889G>C	c.(2887-2889)caG>caC	p.Q963H		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGGGGCTCTCTGGTCCCCGT	0.647000														100			6		0	0	0.021553	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472882	70472882	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chrX:70472882C>G	uc004dzh.2	-	1	403	c.224G>C	c.(223-225)gGa>gCa	p.G75A	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.G75A|ZMYM3_uc004dzj.2_Missense_Mutation_p.G75A|ZMYM3_uc011mpu.2_5'Flank|ZMYM3_uc004dzl.4_Missense_Mutation_p.G75A	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	75					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCAGTGGCTCCATCCAGGAC	0.652000														35			3		0	0	0.009096	0	0
CPXM1	56265	broad.mit.edu	37	20	2775058	2775058	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:2775058C>A	uc002wgu.3	-	13	2057	c.1983G>T	c.(1981-1983)tgG>tgT	p.W661C	CPXM1_uc010gas.3_Missense_Mutation_p.W587C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	661					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAGACGCCAATAATCCC	0.597000														86			17		3.62473e-10	4.37181e-10	0.012319	1	0
LHFPL4	375323	broad.mit.edu	37	3	9547649	9547649	+	Splice_Site	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:9547649G>A	uc003bry.3	-	3	929	c.643_splice	c.e3+1	p.D215_splice		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	215						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCACACTCGCCTTTGTTCT	0.592000														173			176		0	0	0.014410	0	0
XPR1	9213	broad.mit.edu	37	1	180849312	180849312	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:180849312G>C	uc001goi.3	+	13	2101	c.1909G>C	c.(1909-1911)Gat>Cat	p.D637H	XPR1_uc009wxn.3_Missense_Mutation_p.D572H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	637	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGAACGCAGATGATCAGAC	0.517000														65			45		0	0	0.014410	0	0
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	A	A	rs138844530	by1000genomes	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:100623250G>A	uc002taf.3	-	5	936	c.792C>T	c.(790-792)gaC>gaT	p.D264D	AFF3_uc002tag.3_Silent_p.D239D|AFF3_uc010fiq.1_Silent_p.D239D|AFF3_uc010yvr.1_Silent_p.D393D|AFF3_uc002tah.1_Silent_p.D264D|AFF3_uc010fir.1_Silent_p.D316D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	239					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572000														55			61		0	0	0.014410	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142257	48142257	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:48142257G>A	uc001rpz.4	-	11	1773	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.S366F|RAPGEF3_uc009zkq.3_Missense_Mutation_p.S366F|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.S420F	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	366					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAGCACTGGAATCTGGTCC	0.547000														57			42		0	0	0.014410	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279617	18279617	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:18279617G>A	uc002nia.1	+	14	2402	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	630	SH2 2.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCAACCGCACGCAGGCAGAGG	0.657000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			30		0	0	0.013726	0	0
ERLIN2	11160	broad.mit.edu	37	8	37597912	37597912	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:37597912G>A	uc003xke.4	+	2	252	c.137G>A	c.(136-138)gGc>gAc	p.G46D	AX747135_uc003xkb.1_5'Flank|ERLIN2_uc003xkc.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkd.3_Missense_Mutation_p.G46D|ERLIN2_uc003xkf.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkg.3_Missense_Mutation_p.G46D	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	46					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGACCAGCGGCCCTGGTTTC	0.537000														494			16		0	0	0.028581	0	0
CCNL2	81669	broad.mit.edu	37	1	1334592	1334592	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:1334592G>A	uc001afi.2	-	0	127	c.95C>T	c.(94-96)tCg>tTg	p.S32L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.S32L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	32					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCCCTGCGACCCTGAGGG	0.711000														34			28		0	0	0.010818	0	0
CACNG4	27092	broad.mit.edu	37	17	65026963	65026963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:65026963T>C	uc002jft.2	+	3	875	c.827T>C	c.(826-828)aTg>aCg	p.M276T		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	276					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAGCTGTCCATGTACACGCTG	0.647000														141			36		0	0	0.010771	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:94297234G>C	uc001kia.3	-	1	248	c.172C>G	c.(172-174)Cct>Gct	p.P58A		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														114			108		0	0	0.014410	0	0
GABRB3	2562	broad.mit.edu	37	15	26793190	26793190	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:26793190G>C	uc001zbb.3	-	9	1443	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.S320*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S306*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S391*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S391*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	391					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A447D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATATTGCTGAATTCCTGGT	0.493000														128			98		0	0	0.014410	0	0
GGA2	23062	broad.mit.edu	37	16	23503028	23503028	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:23503028G>C	uc002dlq.3	-	4	528	c.445C>G	c.(445-447)Cga>Gga	p.R149G	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	149	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R149*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TAAGCGTCTCGAATCTTGATG	0.443000														367			8		0	0	0.006214	0	0
SHE	126669	broad.mit.edu	37	1	154474217	154474217	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:154474217C>T	uc001ffb.3	-	0	310	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SHE_uc001ffc.3_Non-coding_Transcript|TDRD10_uc001ffd.3_5'Flank|TDRD10_uc009wow.3_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	96										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGGGGCCGACGCCGGCCCTG	0.731000														3			4		0	0	0.004482	0	0
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:10216500G>A	uc002gmk.1	-	29	4246	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617000														341			8		0	0	0.008291	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439254	14439254	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr21:14439254G>A	uc002yja.4	+	9		c.2772G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AGGAAAAATCGAAGAGCAACA	0.303000														21			15		0	0	0.028581	0	0
BRD2	6046	broad.mit.edu	37	6	32945959	32945959	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:32945959C>G	uc010juh.3	+	8	2939	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P	BRD2_uc003ocn.4_Silent_p.P545P|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.P425P|BRD2_uc003ocq.4_Silent_p.P545P|BRD2_uc021ywf.1_Silent_p.P498P	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	545	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TATCCAAGCCCAAGAGGAAAA	0.463000														61			52		0	0	0.014410	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407208	62407208	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:62407208G>A	uc002ygv.2	-	2	1246	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGAGGGCCCAGATAGCTGGCT	0.662000														128			120		0	0	0.014410	0	0
WDR59	79726	broad.mit.edu	37	16	74990405	74990405	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:74990405G>A	uc002fdh.1	-	2	310	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	WDR59_uc002fdi.3_Missense_Mutation_p.H70Y|WDR59_uc021tli.1_Missense_Mutation_p.H49Y	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	70										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGCTGTCATGAGGATTCCAC	0.468000														76			54		0	0	0.014410	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667829	49667829	+	Missense_Mutation	SNP	C	T	T	rs75710233	byFrequency	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:49667829C>T	uc001jgu.3	-	4	902	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R96H|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R186H|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R143H|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R192H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	186	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGAGCCCGCGCTCCCGGAT	0.642000														152			66		0	0	0.014410	0	0
WDR54	84058	broad.mit.edu	37	2	74652604	74652604	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:74652604A>G	uc002slb.3	+	8	919	c.859A>G	c.(859-861)Agt>Ggt	p.S287G		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	287								p.E286K(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AAACCCAGAGAGTGGCTACAT	0.597000														153			3		0	0	0.009096	0	0
GRHL2	79977	broad.mit.edu	37	8	102631907	102631907	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:102631907C>G	uc010mbu.3	+	8	1569	c.1239C>G	c.(1237-1239)atC>atG	p.I413M		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	413						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATTGCCAGATCAAGGTCTTCT	0.338000														187			5		0	0	0.021553	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391505	102391505	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:102391505C>G	uc001yko.3	+	13	1611	c.1471C>G	c.(1471-1473)Cct>Gct	p.P491A	PPP2R5C_uc010txr.2_Missense_Mutation_p.P522A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.P507A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.P452A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	491					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R490C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGGACCGTCCTCTTGCACG	0.552000														474			7		0	0	0.004482	0	0
SGMS1	259230	broad.mit.edu	37	10	52071078	52071078	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:52071078T>C	uc001jje.3	-	8	1793	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	SGMS1_uc010qhk.2_Missense_Mutation_p.Y111C|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_3'UTR	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	286					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGTACAGATAGTCCCCACA	0.453000														39			27		0	0	0.007291	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296712	25296712	+	RNA	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:25296712G>C	uc001yxg.3	+	0		c.90G>C								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		CATCGGAACTGAGGTCCAGCA	0.473000														132			83		0	0	0.014410	0	0
CLINT1	9685	broad.mit.edu	37	5	157240138	157240138	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:157240138C>G	uc003lxj.2	-	4	655	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CLINT1_uc003lxi.2_Missense_Mutation_p.K132N|CLINT1_uc011ddv.2_Missense_Mutation_p.K150N	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	150					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTGCTTTCTTTCGCTCTT	0.423000														54			54		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57004337	57004337	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:57004337G>C	uc001njo.3	-	0	591	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	48						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGAGCACCAGACCGTTGCCC	0.592000														105			71		0	0	0.014410	0	0
SYNM	23336	broad.mit.edu	37	15	99670884	99670884	+	Silent	SNP	C	G	G	rs112125623		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:99670884C>G	uc002bup.3	+	4	2436	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V	SYNM_uc002buo.3_Silent_p.V772V|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	773	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGGAGGTCGAAGATGTGT	0.547000														65			3		0	0	0.004672	0	0
TYRO3	7301	broad.mit.edu	37	15	41859568	41859568	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:41859568C>A	uc001zof.2	+	6	1030	c.794C>A	c.(793-795)gCc>gAc	p.A265D		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	265	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A265G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACACAGGCCCCAGGAGGC	0.557000														250			8		0.00448238	0.00495256	0.004482	1	0
HECW1	23072	broad.mit.edu	37	7	43519234	43519234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:43519234G>C	uc003tid.1	+	16	3730	c.3125G>C	c.(3124-3126)cGa>cCa	p.R1042P	HECW1_uc011kbi.1_Missense_Mutation_p.R1008P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1042	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACAACAGTCGAGCTACCACT	0.493000														246			7		0	0	0.003080	0	0
NTN3	4917	broad.mit.edu	37	16	2522390	2522390	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:2522390G>C	uc002cqj.3	+	0	891	c.688G>C	c.(688-690)Gca>Cca	p.A230P	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	230	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GCCTAGCACGGCAGGTGACCC	0.667000														56			3		0	0	0.004672	0	0
ITGAE	3682	broad.mit.edu	37	17	3659152	3659152	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:3659152A>T	uc002fwo.4	-	10	1310	c.1211T>A	c.(1210-1212)aTt>aAt	p.I404N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	404					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACTGAAGCCAATCTGTGCCAG	0.592000														7			7		0	0	0.003080	0	0
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:160157288A>T	uc003qsl.3	+	2	215	c.-7_splice	c.e2-2		WTAP_uc010kjx.3_Splice_Site|WTAP_uc003qsk.3_Splice_Site|WTAP_uc003qsn.3_Splice_Site	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.						RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318000														274			5		0	0	0.014758	0	0
MS4A15	219995	broad.mit.edu	37	11	60540926	60540926	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:60540926T>A	uc009ynf.1	+	4	687	c.467T>A	c.(466-468)aTt>aAt	p.I156N	MS4A15_uc001npx.2_Missense_Mutation_p.I63N|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.I115N	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	156						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGGACAGCCATTCTGCTCATG	0.572000														25			30		0	0	0.003755	0	0
EFHB	151651	broad.mit.edu	37	3	19925989	19925989	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:19925989G>C	uc003cbl.4	-	10	2248	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	EFHB_uc003cbm.3_Silent_p.L554L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	684					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GAAGTGTCCGGAGAGTCTTTT	0.393000														94			78		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39910503	39910503	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:39910503G>C	uc021olw.1	+	44	14930	c.14930G>C	c.(14929-14931)aGa>aCa	p.R4977T	MACF1_uc021ols.1_Missense_Mutation_p.R4472T|MACF1_uc021olt.1_Missense_Mutation_p.R4475T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6542					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGGAAGAAAGAAAGGTACAG	0.418000														54			44		0	0	0.009718	0	0
OBSL1	23363	broad.mit.edu	37	2	220420911	220420911	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:220420911G>A	uc010fwk.3	-	13	4754	c.4440C>T	c.(4438-4440)gcC>gcT	p.A1480A	OBSL1_uc002vmh.1_Silent_p.A379A|OBSL1_uc010zli.1_Silent_p.A287A|OBSL1_uc010fwl.2_Silent_p.A1480A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1480	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCAGCGCACGGCCCCCGCTG	0.657000														9			5		0	0	0.001984	0	0
CCNL2	81669	broad.mit.edu	37	1	1334456	1334456	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:1334456G>A	uc001afi.2	-	0	263	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Silent_p.L77L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	77					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCACCACGCGGAGGTCGGTCT	0.692000														18			11		0	0	0.002450	0	0
LRRN2	10446	broad.mit.edu	37	1	204587907	204587907	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:204587907C>T	uc021phy.1	-	0	1214	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R405H|LRRN2_uc001hbf.1_Missense_Mutation_p.R405H|LRRN2_uc009xbf.1_Missense_Mutation_p.R405H|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	405	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GACCGGGAGGCGCTGGAGGTC	0.662000														69			4		0	0	0.003080	0	0
PICK1	9463	broad.mit.edu	37	22	38470965	38470965	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:38470965C>G	uc003auq.3	+	12	1464	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	PICK1_uc003aur.3_Missense_Mutation_p.F358L|PICK1_uc003aus.3_Missense_Mutation_p.F358L|PICK1_uc003aut.3_Missense_Mutation_p.F358L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	358					DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					CCGACGTCTTCCCCATCGAGG	0.607000														37			19		0	0	0.007413	0	0
KRT13	3860	broad.mit.edu	37	17	39659037	39659037	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:39659037T>A	uc002hwu.1	-	4	988	c.925A>T	c.(925-927)Acc>Tcc	p.T309S	KRT13_uc002hwv.1_Missense_Mutation_p.T309S|KRT13_uc010wfr.2_Missense_Mutation_p.T202S|KRT13_uc010cxo.3_Missense_Mutation_p.T309S|KRT13_uc021txk.1_Missense_Mutation_p.T202S	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	309	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCAGTGTTGGTAGACACCTCC	0.577000														198			161		0	0	0.014410	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	T	T	rs150449871	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000														133			7		0	0	0.001984	0	0
WDR11	55717	broad.mit.edu	37	10	122618295	122618295	+	Silent	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:122618295C>A	uc021pzt.1	+	2	585	c.339C>A	c.(337-339)gcC>gcA	p.A113A	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	113						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGAGCATGCCAAGCCTATCC	0.468000														56			5		2.61681e-11	2.89324e-11	0.002450	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140725009	140725009	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:140725009C>T	uc003ljm.2	+	0	1409	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S470F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	472	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGCCTCCATCTTCTCA	0.547000														145			127		0	0	0.014410	0	0
STARD10	10809	broad.mit.edu	37	11	72470333	72470333	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:72470333C>G	uc001osy.3	-	2	485	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.E101Q|STARD10_uc001ota.3_Missense_Mutation_p.E55Q|STARD10_uc001otb.3_Missense_Mutation_p.E101Q	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	101	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCAAAAGTCTCAATGACGTTG	0.562000														58			58		0	0	0.014410	0	0
SLC25A1	6576	broad.mit.edu	37	22	19164390	19164390	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:19164390G>A	uc021wlb.1	-	4	626	c.621C>T	c.(619-621)ttC>ttT	p.F207F	SLC25A1_uc002zoy.3_Silent_p.F97F|SLC25A1_uc002zoz.3_Silent_p.F200F	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	200					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGGTCATGACGAAGAAGCGGA	0.642000														125			4		0	0	0.001168	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667682	51667682	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:51667682C>T	uc011bdt.2	+	6	1040	c.915C>T	c.(913-915)caC>caT	p.H305H	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	305	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTCTGGCCCACAGCATGGGTC	0.527000														197			6		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:49426526G>A	uc001rta.4	-	38	11962	c.11962C>T	c.(11962-11964)Cag>Tag	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q3718*(1)|p.G3988fs*20(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTTGTTGCTGAGGAGACAGT	0.532000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				14			13		0	0	0.013537	0	0
RIC8A	60626	broad.mit.edu	37	11	209483	209483	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:209483T>A	uc001lof.3	+	2	534	c.209T>A	c.(208-210)gTc>gAc	p.V70D	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.V70D|RIC8A_uc001loh.3_Missense_Mutation_p.V63D	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	70						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCAGAGTGTCCGAATCCTG	0.642000														66			21		0	0	0.008871	0	0
CTCFL	140690	broad.mit.edu	37	20	56090811	56090811	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:56090811C>G	uc010giw.1	-	5	1250	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	CTCFL_uc010gix.1_Missense_Mutation_p.R380T|CTCFL_uc002xym.2_Missense_Mutation_p.R380T|CTCFL_uc010gjb.1_Missense_Mutation_p.R380T|CTCFL_uc010gja.1_Missense_Mutation_p.R380T|CTCFL_uc010gjc.1_Missense_Mutation_p.R380T|CTCFL_uc010gjd.1_Missense_Mutation_p.R380T|CTCFL_uc010gje.3_Missense_Mutation_p.R380T|CTCFL_uc010gjg.3_Missense_Mutation_p.R112T|CTCFL_uc010gjf.3_Missense_Mutation_p.R175T|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.R175T|CTCFL_uc010gjj.2_Missense_Mutation_p.R380T|CTCFL_uc021wfe.1_Missense_Mutation_p.R380T|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Missense_Mutation_p.R112T	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	380					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTAGGTATCTCTGCTGGCATA	0.483000														278			219		0	0	0.014410	0	0
TEX2	55852	broad.mit.edu	37	17	62238165	62238165	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:62238165C>G	uc002jed.3	-	7	2972	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q	TEX2_uc002jec.3_Missense_Mutation_p.E934Q|TEX2_uc002jee.3_Missense_Mutation_p.E934Q	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTTACCCTTCTTTGCCAATT	0.463000														267			609		0	0	0.014410	0	0
TRIML1	339976	broad.mit.edu	37	4	189068521	189068521	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542000														38			29		0	0	0.014410	0	0
CYP2S1	29785	broad.mit.edu	37	19	41709523	41709523	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:41709523G>A	uc002opw.3	+	6	1200	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	CYP2S1_uc010xvx.2_Missense_Mutation_p.R107Q	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	382					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						ACCCGCTTCCGAGGGTACACC	0.667000														4			3		0	0	0.009096	0	0
VLDLR	7436	broad.mit.edu	37	9	2651933	2651933	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:2651933G>A	uc003zhk.1	+	16	2792	c.2395G>A	c.(2395-2397)Gca>Aca	p.A799T	VLDLR_uc003zhl.1_Missense_Mutation_p.A771T|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	799					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.A799T(2)|p.A798A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACTTCTGCCGCATGGGCCAT	0.433000														108			43		0	0	0.013114	0	0
VWCE	220001	broad.mit.edu	37	11	61026184	61026184	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:61026184G>A	uc001nra.3	-	19	3110	c.2831C>T	c.(2830-2832)cCa>cTa	p.P944L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	944						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCCACTGGGGGCTGCTG	0.662000														88			34		0	0	0.014410	0	0
PARVB	29780	broad.mit.edu	37	22	44564537	44564537	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:44564537C>T	uc003bem.3	+	13	1303	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	PARVB_uc003ben.3_Silent_p.T358T|PARVB_uc010gzn.3_Silent_p.T283T|PARVB_uc003beo.3_Silent_p.T321T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	358					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				ACCTGTTCACCAAGTACAAGA	0.552000														86			11		0	0	0.010729	0	0
FKBP3	2287	broad.mit.edu	37	14	45603575	45603575	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:45603575G>A	uc010tqf.2	-	0	435	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	29					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TGTTCCTGCAGAAACTTGATA	0.652000														83			41		0	0	0.010771	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386444	121386444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:121386444G>A	uc010hrc.3	-	19	9574	c.9448C>T	c.(9448-9450)Cag>Tag	p.Q3150*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.Q3140*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.Q3106*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.Q3065*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3140					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTGCTGCTGAGCTTCAGAA	0.423000														121			4		0	0	0.014758	0	0
FLT4	2324	broad.mit.edu	37	5	180048230	180048230	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:180048230C>T	uc003mlz.4	-	13	2122	c.2043G>A	c.(2041-2043)acG>acA	p.T681T	FLT4_uc003mma.4_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.2_Silent_p.T681T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	681	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637000														26			26		0	0	0.006320	0	0
MLL3	58508	broad.mit.edu	37	7	151879016	151879016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:151879016G>A	uc003wla.3	-	35	6148	c.5929C>T	c.(5929-5931)Caa>Taa	p.Q1977*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q1038*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1977	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGGAAATTGATCTGTCATC	0.458000			N		medulloblastoma									509			93		0	0	0.014410	0	0
DMXL2	23312	broad.mit.edu	37	15	51857284	51857284	+	Splice_Site	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:51857284C>A	uc010ufy.2	-	4	589	c.364_splice	c.e4+1	p.D122_splice	DMXL2_uc002abf.3_Splice_Site_p.D122_splice|DMXL2_uc010bfa.3_Splice_Site_p.D122_splice	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	122						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)		TTGCTAAATACCTTGAGGATC	0.294000														27			23		3.5997e-14	4.00818e-14	0.014323	1	0
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	G	G	rs121913483		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:1803568C>G	uc003gdr.3	+	6	1002	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S249C(2834)|p.R248C(362)|p.R248_S249del(2)|p.R248_S249insC(2)|p.S249T(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACAGAGCGCTCCCCGCACCGG	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					9			8		0	0	0.010729	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811015	140811015	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:140811015T>C	uc003lkt.2	+	0	858	c.689T>C	c.(688-690)gTg>gCg	p.V230A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.V230A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATCCGCGTGATGGTTCTG	0.657000														79			60		0	0	0.014410	0	0
OR14J1	442191	broad.mit.edu	37	6	29274483	29274483	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:29274483C>T	uc011dln.2	+	0	17	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATTTGACTTCAATGAGTGGA	0.403000														218			138		0	0	0.014410	0	0
NBPF14	25832	broad.mit.edu	37	1	148025829	148025829	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:148025829C>T	uc001eqq.3	-	0	35	c.3G>A	c.(1-3)atG>atA	p.M1I	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Missense_Mutation_p.M341I|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	1						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CATTCCTCAGCATAGATTTTA	0.532000														386			113		0	0	0.014410	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065844	110065844	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:110065844G>A	uc010ywt.1	+	7	2047	c.2047G>A	c.(2047-2049)Gca>Aca	p.A683T		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	683							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGTCAGTGCCGCAAACCTCAA	0.622000														35			3		0	0	0.004672	0	0
ST7L	54879	broad.mit.edu	37	1	113126670	113126670	+	Silent	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:113126670T>C	uc001ecd.3	-	6	1085	c.780A>G	c.(778-780)gcA>gcG	p.A260A	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Silent_p.A77A|ST7L_uc010owg.2_Silent_p.A195A|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Silent_p.A243A|ST7L_uc001ece.3_Silent_p.A260A|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Silent_p.A195A|ST7L_uc001ech.3_Silent_p.A243A|ST7L_uc001eci.3_Silent_p.A260A|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Silent_p.A243A	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	260					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTTGAGTGCCTGTTTAA	0.433000														97			86		0	0	0.014410	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396007	38396007	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:38396007C>T	uc022bgy.1	+	0	262	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R88C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	88					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGAAGCCTTCCGCCTGGGGTC	0.677000														235			19		0	0	0.010504	0	0
INSM2	84684	broad.mit.edu	37	14	36005048	36005048	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:36005048C>T	uc001wth.1	+	0	1801	c.1590C>T	c.(1588-1590)tgC>tgT	p.C530C		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCAAGCACTGCCCGTCCACTT	0.627000														82			23		0	0	0.012319	0	0
NEB	4703	broad.mit.edu	37	2	152397247	152397247	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:152397247C>T	uc021vrb.1	-	107	15677	c.15648G>A	c.(15646-15648)ttG>ttA	p.L5216L	NEB_uc002txr.3_Silent_p.L1682L|NEB_uc002txu.3_Silent_p.L6917L|NEB_uc021vrc.1_Silent_p.L6917L|NEB_uc010fnx.3_Silent_p.L5204L|NEB_uc021vrd.1_Silent_p.L5216L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5216					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATGCTTCAAGGCTGTGG	0.433000														145			8		0	0	0.006214	0	0
UNC5C	8633	broad.mit.edu	37	4	96127913	96127913	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:96127913G>T	uc003hto.3	-	10	2121	c.1768C>A	c.(1768-1770)Cct>Act	p.P590T	UNC5C_uc010ilc.2_Missense_Mutation_p.P609T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	590	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.P590T(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTCACCACAGGGGTCAAAAGT	0.537000														80			16		3.41278e-10	3.7469e-10	0.004990	1	0
ATP1A1	476	broad.mit.edu	37	1	116931284	116931284	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:116931284G>A	uc001ege.3	+	5	865	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ATP1A1_uc010owv.1_Missense_Mutation_p.E145K|ATP1A1_uc010oww.2_Missense_Mutation_p.E176K|ATP1A1_uc010owx.2_Missense_Mutation_p.E145K	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	176					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TCGAAATGGTGAGAAAATGAG	0.398000														133			84		0	0	0.014410	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372582	151372582	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:151372582C>G	uc003wkk.3	-	3	1219	c.608G>C	c.(607-609)aGg>aCg	p.R203T	PRKAG2_uc011kvl.2_Missense_Mutation_p.R79T|PRKAG2_uc003wkj.3_Missense_Mutation_p.R159T|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.R203T	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	203					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGGCAGAACCTCTGCCCTGT	0.587000														59			45		0	0	0.013114	0	0
DSC2	1824	broad.mit.edu	37	18	28660162	28660162	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr18:28660162G>C	uc002kwl.4	-	9	1874	c.1420C>G	c.(1420-1422)Cca>Gca	p.P474A	DSC2_uc002kwk.4_Missense_Mutation_p.P474A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	474	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P473T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTCTGTATTGGAGGGTTACAC	0.443000														174			202		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:130287049G>A	uc010htl.3	+	4	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	668	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.D668N(2)|p.S667S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423000														151			128		0	0	0.014410	0	0
F5	2153	broad.mit.edu	37	1	169525999	169525999	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:169525999G>C	uc001ggg.1	-	5	982	c.837C>G	c.(835-837)aaC>aaG	p.N279K	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	279	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCTTATGATGGTTCTGCTCCA	0.517000														111			4		0	0	0.009096	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010706	85010706	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:85010706C>T	uc010voi.1	-	7	1209	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZDHHC7_uc002fiq.2_Missense_Mutation_p.E249K|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	249						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CTTACCGTCTCGTCGTTGCAT	0.448000														131			105		0	0	0.014410	0	0
BRD2	6046	broad.mit.edu	37	6	32947799	32947799	+	Nonsense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:32947799C>G	uc010juh.3	+	10	3445	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	BRD2_uc003ocn.4_Nonsense_Mutation_p.S679*|BRD2_uc003ocp.4_Nonsense_Mutation_p.S559*|BRD2_uc003ocq.4_Nonsense_Mutation_p.S679*|BRD2_uc021ywf.1_Nonsense_Mutation_p.S632*	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	679	ET.		P -> L (in a glioblastoma multiforme sample; somatic mutation).		spermatogenesis	nucleus	protein serine/threonine kinase activity	p.P714L(1)		central_nervous_system(3)|stomach(2)	5						TTACGTGATTCAAACCCAGAA	0.498000														50			42		0	0	0.007835	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327895	104327895	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:104327895G>C	uc001tkb.1	+	4	678	c.573G>C	c.(571-573)ttG>ttC	p.L191F	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.L191F	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	191					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAATTGATTGGCCAGT	0.428000														215			4		0	0	0.001168	0	0
CCDC108	255101	broad.mit.edu	37	2	219886640	219886640	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:219886640C>T	uc002vjl.1	-	17	3076	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	998						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCCAGCTCCTTTTCCTTT	0.597000														58			80		0	0	0.014410	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888030	205888030	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:205888030C>T	uc001hdp.3	-	18	2308	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	SLC26A9_uc001hdm.3_5'Flank|SLC26A9_uc001hdn.3_5'Flank|SLC26A9_uc001hdo.3_Missense_Mutation_p.D400N|SLC26A9_uc001hdq.3_Missense_Mutation_p.D732N	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGACTGCGTCATGTATGCTG	0.517000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		295			260		0	0	0.014410	0	0
TDRD10	126668	broad.mit.edu	37	1	154493835	154493835	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:154493835G>A	uc009wow.3	+	5	1087	c.249G>A	c.(247-249)gtG>gtA	p.V83V	TDRD10_uc001ffd.3_Silent_p.V83V|TDRD10_uc001ffe.3_Silent_p.V4V	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	83	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGAAAGTGACACTTGCAA	0.502000														304			30		0	0	0.010818	0	0
CELSR1	9620	broad.mit.edu	37	22	46930992	46930992	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:46930992G>A	uc003bhw.1	-	0	2076	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	692	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGAAGCTCGTAGGTGGGCT	0.642000														28			9		0	0	0.013537	0	0
IL9R	3581	broad.mit.edu	37	X	155232601	155232601	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chrX:155232601G>A	uc004fnv.1	+	1	238	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.R67Q	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	20					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCCTGAGGCGAGACATGGGC	0.612000														128			71		0	0	0.014410	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279617	18279617	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:18279617G>A	uc002nia.1	+	14	2402	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	630	SH2 2.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TCAACCGCACGCAGGCAGAGG	0.657000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			18		0	0	0.006122	0	0
ST18	9705	broad.mit.edu	37	8	53028901	53028901	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:53028901C>T	uc003xqz.2	-	19	3093	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ST18_uc011ldq.1_Silent_p.L626L|ST18_uc011ldr.1_Silent_p.L944L|ST18_uc011lds.1_Silent_p.L884L|ST18_uc003xra.2_Silent_p.L979L	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	979						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGCTCTTTCAGCAGACTTT	0.433000														98			64		0	0	0.014410	0	0
NLRP9	338321	broad.mit.edu	37	19	56244727	56244727	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:56244727C>A	uc002qly.3	-	1	498	c.470G>T	c.(469-471)gGa>gTa	p.G157V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	157	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTTGTTTTTCCAATTCCATC	0.408000														136			4		0.00909568	0.0094571	0.009096	1	0
C19orf21	126353	broad.mit.edu	37	19	757669	757669	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:757669C>T	uc002lpo.3	+	1	806	c.723C>T	c.(721-723)aaC>aaT	p.N241N		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	241										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGCCAACGGGCACGTGG	0.672000														24			25		0	0	0.005443	0	0
SPATA20	64847	broad.mit.edu	37	17	48628090	48628090	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48628090G>A	uc002ird.3	+	10	1336	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SPATA20_uc002irc.3_Missense_Mutation_p.E50K|SPATA20_uc002ire.3_Missense_Mutation_p.E339K|SPATA20_uc002irf.3_Missense_Mutation_p.E383K|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	383					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTATAGCGCAGAAGATGCAGA	0.672000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		189			155		0	0	0.014410	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256349	69256349	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:69256349C>G	uc021rve.1	-	2	1219	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	ZFP36L1_uc001xki.2_Silent_p.L306L|ZFP36L1_uc001xkh.2_Silent_p.L306L	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	306					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAGCTGCTCAGGTAGCCCT	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			64		0	0	0.014410	0	0
TYRP1	7306	broad.mit.edu	37	9	12704628	12704628	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:12704628C>A	uc003zkv.4	+	5	1362	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	395				PN -> SQ (in Ref. 7; CAA35820).	melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CATTTGTCTCCAAATGATCCT	0.443000									Oculocutaneous Albinism					238			99		1.14069e-49	1.28841e-49	0.014410	1	0
SPATA20	64847	broad.mit.edu	37	17	48628385	48628385	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48628385G>A	uc002ird.3	+	11	1551	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SPATA20_uc002irc.3_Silent_p.Q121Q|SPATA20_uc002ire.3_Silent_p.Q410Q|SPATA20_uc002irf.3_Silent_p.Q454Q|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	454					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGCAGGGCCAGAATGTGCTGA	0.637000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			53		0	0	0.014410	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:48615544G>A	uc010wms.2	+	3	1020	c.832G>A	c.(832-834)Gag>Aag	p.E278K	EPN3_uc002ira.4_Missense_Mutation_p.E223K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E223K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	223						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667000														11			21		0	0	0.003330	0	0
MACC1	346389	broad.mit.edu	37	7	20199090	20199090	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:20199090C>A	uc003sus.4	-	4	1203	c.894G>T	c.(892-894)aaG>aaT	p.K298N	MACC1_uc010kug.3_Missense_Mutation_p.K298N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	298					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGAAAGGATCCTTTCTTACTT	0.413000														92			21		2.4624e-09	2.6847e-09	0.008871	1	0
ETAA1	54465	broad.mit.edu	37	2	67631299	67631299	+	Silent	SNP	A	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:67631299A>G	uc002sdz.1	+	4	1624	c.1485A>G	c.(1483-1485)caA>caG	p.Q495Q		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	495						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACGAAATTCAAAATTGTATAG	0.279000														40			42		0	0	0.006999	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722582	122722582	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr4:122722582G>A	uc003iea.3	+	0	111	c.3G>A	c.(1-3)atG>atA	p.M1I	EXOSC9_uc003idz.3_Missense_Mutation_p.M1I|EXOSC9_uc003ieb.3_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	1	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCAACACCATGAAGGAAACGC	0.607000														88			58		0	0	0.014410	0	0
STAG2	10735	broad.mit.edu	37	X	123176469	123176469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chrX:123176469C>T	uc004eua.3	+	6	840	c.436C>T	c.(436-438)Cga>Tga	p.R146*	STAG2_uc004etz.4_Nonsense_Mutation_p.R146*|STAG2_uc004eub.3_Nonsense_Mutation_p.R146*|STAG2_uc004euc.3_Nonsense_Mutation_p.R146*|STAG2_uc004eud.3_Nonsense_Mutation_p.R146*|STAG2_uc004eue.3_Nonsense_Mutation_p.R146*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGATAATTCGAAAAATGAC	0.284000														10			72		0	0	0.014410	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854436	12854436	+	Silent	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:12854436G>C	uc001auj.2	+	2	763	c.660G>C	c.(658-660)ctG>ctC	p.L220L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	220										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACGTCTGATAAGAAAGC	0.393000														350			338		0	0	0.014410	0	0
ST18	9705	broad.mit.edu	37	8	53028912	53028912	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:53028912C>T	uc003xqz.2	-	19	3082	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	ST18_uc011ldq.1_Missense_Mutation_p.E623K|ST18_uc011ldr.1_Missense_Mutation_p.E941K|ST18_uc011lds.1_Missense_Mutation_p.E881K|ST18_uc003xra.2_Missense_Mutation_p.E976K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	976						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGACTTTCATTGTTCTGT	0.438000														93			54		0	0	0.014410	0	0
MKL1	57591	broad.mit.edu	37	22	40814967	40814967	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:40814967G>A	uc003ayv.1	-	8	1682	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	MKL1_uc010gyf.1_Missense_Mutation_p.S442L|MKL1_uc003ayw.1_Missense_Mutation_p.S492L|MKL1_uc010gye.1_Missense_Mutation_p.S492L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	492					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.S492S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGCAGTGGCGAGGCCTGCAG	0.677000			T	RBM15	acute megakaryocytic leukemia									44			10		0	0	0.008291	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115274	220115274	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:220115274C>T	uc002vkt.1	-	3	1205	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	TUBA4A_uc010zkz.1_Missense_Mutation_p.A368T|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	383					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGATGGCGGTCGTGTTG	0.622000														71			4		0	0	0.009096	0	0
DLG1	1739	broad.mit.edu	37	3	196771534	196771534	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:196771534G>C	uc010ial.3	-	25	2934	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C	DLG1_uc011bub.2_Missense_Mutation_p.S788C|DLG1_uc011buc.2_Missense_Mutation_p.S776C|DLG1_uc011bud.2_Missense_Mutation_p.S575C|DLG1_uc003fxo.4_Missense_Mutation_p.S892C|DLG1_uc003fxn.4_Missense_Mutation_p.S914C|DLG1_uc011bue.2_Missense_Mutation_p.S880C	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	892					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTAAGAACCAGATTGTTCTTC	0.378000														210			6		0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:7579415C>T	uc002gim.2	-	3	466	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_uc002gig.1_Nonsense_Mutation_p.W91*|TP53_uc002gih.3_Nonsense_Mutation_p.W91*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.W91*|TP53_uc010cnh.1_Nonsense_Mutation_p.W91*|TP53_uc002gij.2_Nonsense_Mutation_p.W91*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.W52*|TP53_uc010cnk.1_Nonsense_Mutation_p.W106*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(21)|p.0?(8)|p.S90fs*33(4)|p.A76_S90del15(3)|p.G59fs*23(3)|p.W91fs*13(2)|p.S90fs*59(2)|p.V73fs*9(1)|p.S90F(1)|p.D48fs*55(1)|p.W91fs*32(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACAGGGGCCAGGAGGGGGC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				97			19		0	0	0.012319	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	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.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														219			14		0	0	0.012319	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249777	79249777	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:79249777C>T	uc002jzz.1	-	7	1279	c.904G>A	c.(904-906)Gag>Aag	p.E302K	SLC38A10_uc002jzy.1_Missense_Mutation_p.E220K|SLC38A10_uc002kab.3_Missense_Mutation_p.E302K	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	302					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGCTGCTCACACAGCAGC	0.597000														218			60		0	0	0.014410	0	0
GTSE1	51512	broad.mit.edu	37	22	46712115	46712115	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr22:46712115C>T	uc011aqy.2	+	6	1450	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	GTSE1_uc011aqz.2_Missense_Mutation_p.P260L|GTSE1_uc003bhl.1_Missense_Mutation_p.P38L|GTSE1_uc003bhm.1_Missense_Mutation_p.P38L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	394					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCACGGCACCCCCCTCAGCA	0.627000														117			4		0	0	0.014758	0	0
NBPF14	25832	broad.mit.edu	37	1	148025786	148025786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:148025786G>A	uc001eqq.3	-	0	78	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqf.3_Nonsense_Mutation_p.Q356*|NBPF14_uc001eqg.3_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_5'Flank	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	16						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTTGAGCTGCTCTGCAAGC	0.527000														293			83		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49425839	49425839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:49425839G>A	uc001rta.4	-	38	12649	c.12649C>T	c.(12649-12651)Cag>Tag	p.Q4217*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4217	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCTGCTGCTGAGGACTTAAG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				33			21		0	0	0.008361	0	0
FLNB	2317	broad.mit.edu	37	3	58089735	58089735	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:58089735C>T	uc003djj.2	+	9	1698	c.1533C>T	c.(1531-1533)taC>taT	p.Y511Y	FLNB_uc010hne.2_Silent_p.Y511Y|FLNB_uc003djk.2_Silent_p.Y511Y|FLNB_uc010hnf.2_Silent_p.Y511Y|FLNB_uc003djl.2_Silent_p.Y342Y|FLNB_uc003djm.2_Silent_p.Y342Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	511					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATGGGGTCTACGCATTCGAGT	0.542000														158			4		0	0	0.009096	0	0
NEBL	10529	broad.mit.edu	37	10	21309109	21309109	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:21309109G>A	uc001iqk.3	-	2	540	c.186C>T	c.(184-186)ttC>ttT	p.F62F	NEBL_uc021pnu.1_Silent_p.F62F	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	726					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCACCGTGGTGAAGGACTGCT	0.413000														144			8		0	0	0.006214	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528353	6528353	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:6528353C>T	uc001anp.1	-	20	3272	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q	PLEKHG5_uc001ann.1_Missense_Mutation_p.R885Q|PLEKHG5_uc001ano.1_Missense_Mutation_p.R904Q|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R409Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R688Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R917Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R848Q|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anl.1_Missense_Mutation_p.R848Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R848Q	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	904					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGAAGGAACTCGTGGGGACTC	0.662000														7			7		0	0	0.001984	0	0
MLH3	27030	broad.mit.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:75514890G>C	uc001xrd.1	-	1	1685	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	MLH3_uc001xre.1_Missense_Mutation_p.S490C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	490					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.S490Y(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378000								Mismatch excision repair (MMR)						190			118		0	0	0.014410	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828063	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:42828063C>T	uc002ihf.3	+	13	1503	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617000														59			57		0	0	0.014410	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58066651	58066651	+	Silent	SNP	C	T	T	rs144367363	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:58066651C>T	uc002iyf.2	-	8	721	c.486G>A	c.(484-486)caG>caA	p.Q162Q	AK097658_uc002iye.1_Intron					Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		ACTGGTAAAGCTGTTTAAGAG	0.333000														46			4		0	0	0.009096	0	0
PRR12	57479	broad.mit.edu	37	19	50099849	50099849	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:50099849G>A	uc002poo.4	+	3	2257	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	466							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGGCAGGCGCCAAGGAGCT	0.692000														11			6		0	0	0.001168	0	0
CHRM2	1129	broad.mit.edu	37	7	136700056	136700056	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:136700056G>T	uc003vtf.1	+	3	1067	c.444G>T	c.(442-444)tgG>tgT	p.W148C	CHRM2_uc003vtg.1_Missense_Mutation_p.W148C|CHRM2_uc003vti.1_Missense_Mutation_p.W148C|CHRM2_uc003vtm.1_Missense_Mutation_p.W148C|CHRM2_uc003vtj.1_Missense_Mutation_p.W148C|CHRM2_uc003vtk.1_Missense_Mutation_p.W148C|CHRM2_uc003vtl.1_Missense_Mutation_p.W148C|CHRM2_uc003vtn.1_Missense_Mutation_p.W148C|CHRM2_uc003vto.1_Missense_Mutation_p.W148C|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.W148C	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	148					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CAGCTGCCTGGGTCCTCTCTT	0.488000														99			21		2.98393e-07	3.18692e-07	0.016522	1	0
WDR41	55255	broad.mit.edu	37	5	76749713	76749713	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:76749713C>A	uc003kff.1	-	5	739	c.452G>T	c.(451-453)gGt>gTt	p.G151V	WDR41_uc011csy.1_Missense_Mutation_p.G151V|WDR41_uc011csz.1_Missense_Mutation_p.G96V|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Intron	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	151										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTCATTCCCACCAGAAAGCCA	0.368000														146			7		1.06961e-07	1.1502e-07	0.003080	1	0
THRAP3	9967	broad.mit.edu	37	1	36748232	36748232	+	Missense_Mutation	SNP	G	A	A	rs148045717		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:36748232G>A	uc001cae.4	+	2	292	c.68G>A	c.(67-69)cGt>cAt	p.R23H	THRAP3_uc001caf.4_Missense_Mutation_p.R23H|THRAP3_uc001cag.1_Missense_Mutation_p.R23H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	23	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R23C(1)		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)				TCAAGATCTCGTTCTCGTTCA	0.453000			T	USP6	aneurysmal bone cysts									96			75		0	0	0.014410	0	0
C9orf24	84688	broad.mit.edu	37	9	34397497	34397497	+	Splice_Site	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:34397497C>T	uc003zuh.1	-	1	353	c.135_splice	c.e1+1	p.P45_splice		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	45										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCCACTTACCGGAGTCAGAA	0.522000														187			79		0	0	0.014410	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407188	117407188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr7:117407188C>G	uc003vjf.3	-	8	2913	c.2821G>C	c.(2821-2823)Gaa>Caa	p.E941Q		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	941										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTCTCCTTTCTGGCTCAAGC	0.433000														180			4		0	0	0.014758	0	0
GABRB3	2562	broad.mit.edu	37	15	26793190	26793190	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:26793190G>C	uc001zbb.3	-	9	1443	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.S320*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.S306*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.S391*|GABRB3_uc001zba.3_Nonsense_Mutation_p.S391*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	391					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.A447D(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATATTGCTGAATTCCTGGT	0.493000														127			104		0	0	0.014410	0	0
CPXM1	56265	broad.mit.edu	37	20	2775058	2775058	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:2775058C>A	uc002wgu.3	-	13	2057	c.1983G>T	c.(1981-1983)tgG>tgT	p.W661C	CPXM1_uc010gas.3_Missense_Mutation_p.W587C	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	661					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAGACGCCAATAATCCC	0.597000														61			19		1.64113e-05	1.74093e-05	0.010504	1	0
LHFPL4	375323	broad.mit.edu	37	3	9547649	9547649	+	Splice_Site	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:9547649G>A	uc003bry.3	-	3	929	c.643_splice	c.e3+1	p.D215_splice		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	215						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CAGCACACTCGCCTTTGTTCT	0.592000														140			129		0	0	0.014410	0	0
XPR1	9213	broad.mit.edu	37	1	180849312	180849312	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:180849312G>C	uc001goi.3	+	13	2101	c.1909G>C	c.(1909-1911)Gat>Cat	p.D637H	XPR1_uc009wxn.3_Missense_Mutation_p.D572H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	637	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGAACGCAGATGATCAGAC	0.517000														83			83		0	0	0.014410	0	0
CX3CL1	6376	broad.mit.edu	37	16	57413597	57413597	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:57413597C>T	uc002eli.3	+	1	189	c.122C>T	c.(121-123)tCa>tTa	p.S41L		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	41	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGATGACATCAAAGATACCT	0.517000														90			5		0	0	0.014758	0	0
AFF3	3899	broad.mit.edu	37	2	100623250	100623250	+	Silent	SNP	G	A	A	rs138844530	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:100623250G>A	uc002taf.3	-	5	936	c.792C>T	c.(790-792)gaC>gaT	p.D264D	AFF3_uc002tag.3_Silent_p.D239D|AFF3_uc010fiq.1_Silent_p.D239D|AFF3_uc010yvr.1_Silent_p.D393D|AFF3_uc002tah.1_Silent_p.D264D|AFF3_uc010fir.1_Silent_p.D316D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	239					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCTTGGCCGTCCATTGGCC	0.572000														50			37		0	0	0.004878	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142257	48142257	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:48142257G>A	uc001rpz.4	-	11	1773	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.S366F|RAPGEF3_uc009zkq.3_Missense_Mutation_p.S366F|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.S420F	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	366					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATGAGCACTGGAATCTGGTCC	0.547000														43			24		0	0	0.005443	0	0
ERLIN2	11160	broad.mit.edu	37	8	37597912	37597912	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:37597912G>A	uc003xke.4	+	2	252	c.137G>A	c.(136-138)gGc>gAc	p.G46D	AX747135_uc003xkb.1_5'Flank|ERLIN2_uc003xkc.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkd.3_Missense_Mutation_p.G46D|ERLIN2_uc003xkf.4_Missense_Mutation_p.G46D|ERLIN2_uc003xkg.3_Missense_Mutation_p.G46D	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	46					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGACCAGCGGCCCTGGTTTC	0.537000														417			21		0	0	0.016522	0	0
CCNL2	81669	broad.mit.edu	37	1	1334592	1334592	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:1334592G>A	uc001afi.2	-	0	127	c.95C>T	c.(94-96)tCg>tTg	p.S32L	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Missense_Mutation_p.S32L|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	32					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCCCTGCGACCCTGAGGG	0.711000														21			21		0	0	0.010504	0	0
CACNG4	27092	broad.mit.edu	37	17	65026963	65026963	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr17:65026963T>C	uc002jft.2	+	3	875	c.827T>C	c.(826-828)aTg>aCg	p.M276T		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	276					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAGCTGTCCATGTACACGCTG	0.647000														112			26		0	0	0.007291	0	0
ARRB1	408	broad.mit.edu	37	11	74985127	74985127	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:74985127G>C	uc001owe.2	-	10	1129	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ARRB1_uc001owf.2_Missense_Mutation_p.S302C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	302					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGGTGCTAGAGGCCAAGTT	0.602000														167			139		0	0	0.014410	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884594	29884594	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:29884594A>G	uc010vec.2	-	13	2700	c.2455T>C	c.(2455-2457)Tcc>Ccc	p.S819P	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S749P|SEZ6L2_uc002dur.4_Missense_Mutation_p.S749P|SEZ6L2_uc002duq.4_Missense_Mutation_p.S819P|SEZ6L2_uc010ved.2_Missense_Mutation_p.S775P|SEZ6L2_uc002dus.4_Missense_Mutation_p.S705P	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	819	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCCACTGGGAGGGGTGGCCG	0.642000														46			5		0	0	0.013537	0	0
IDE	3416	broad.mit.edu	37	10	94297234	94297234	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:94297234G>C	uc001kia.3	-	1	248	c.172C>G	c.(172-174)Cct>Gct	p.P58A		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	58					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTCTTCAGGAGACTTGGTA	0.388000														111			78		0	0	0.014410	0	0
GGA2	23062	broad.mit.edu	37	16	23503028	23503028	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:23503028G>C	uc002dlq.3	-	4	528	c.445C>G	c.(445-447)Cga>Gga	p.R149G	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	149	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R149*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TAAGCGTCTCGAATCTTGATG	0.443000														333			8		0	0	0.004482	0	0
PARP3	10039	broad.mit.edu	37	3	51979556	51979556	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr3:51979556G>C	uc003dby.3	+	6	1278	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	PARP3_uc003dbz.3_Missense_Mutation_p.E310Q	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	303					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCAGTCTCTGAGCAGGAGAA	0.622000														99			3		0	0	0.004672	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439254	14439254	+	RNA	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr21:14439254G>A	uc002yja.4	+	9		c.2772G>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AGGAAAAATCGAAGAGCAACA	0.303000														24			12		0	0	0.001855	0	0
OR4S2	219431	broad.mit.edu	37	11	55418712	55418712	+	Silent	SNP	C	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:55418712C>T	uc001nhs.1	+	0	333	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGAGATCTTCATCCTTACTG	0.403000														541			17		0	0	0.007413	0	0
BRD2	6046	broad.mit.edu	37	6	32945959	32945959	+	Silent	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:32945959C>G	uc010juh.3	+	8	2939	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P	BRD2_uc003ocn.4_Silent_p.P545P|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.P425P|BRD2_uc003ocq.4_Silent_p.P545P|BRD2_uc021ywf.1_Silent_p.P498P	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	545	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TATCCAAGCCCAAGAGGAAAA	0.463000														48			33		0	0	0.012213	0	0
ADCY3	109	broad.mit.edu	37	2	25057766	25057766	+	Missense_Mutation	SNP	G	A	A	rs142082596	by1000genomes	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr2:25057766G>A	uc010ykm.2	-	8	1901	c.1702C>T	c.(1702-1704)Cgc>Tgc	p.R568C	ADCY3_uc002rfr.4_Missense_Mutation_p.R201C|ADCY3_uc002rfs.4_Missense_Mutation_p.R568C	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	568					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCCTGCAGGCGCAGCCTCCGG	0.652000														40			3		0	0	0.004672	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407208	62407208	+	Silent	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr20:62407208G>A	uc002ygv.2	-	2	1246	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGAGGGCCCAGATAGCTGGCT	0.662000														97			85		0	0	0.014410	0	0
WDR59	79726	broad.mit.edu	37	16	74990405	74990405	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr16:74990405G>A	uc002fdh.1	-	2	310	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	WDR59_uc002fdi.3_Missense_Mutation_p.H70Y|WDR59_uc021tli.1_Missense_Mutation_p.H49Y	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	70										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGCTGTCATGAGGATTCCAC	0.468000														74			40		0	0	0.006230	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667829	49667829	+	Missense_Mutation	SNP	C	T	T	rs75710233	byFrequency	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:49667829C>T	uc001jgu.3	-	4	902	c.605G>A	c.(604-606)cGc>cAc	p.R202H	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R96H|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R186H|ARHGAP22_uc010qgl.2_Missense_Mutation_p.R143H|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R192H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	186	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGAGCCCGCGCTCCCGGAT	0.642000														124			48		0	0	0.014410	0	0
GRHL2	79977	broad.mit.edu	37	8	102631907	102631907	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr8:102631907C>G	uc010mbu.3	+	8	1569	c.1239C>G	c.(1237-1239)atC>atG	p.I413M		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	413						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATTGCCAGATCAAGGTCTTCT	0.338000														224			6		0	0	0.003080	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391505	102391505	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr14:102391505C>G	uc001yko.3	+	13	1611	c.1471C>G	c.(1471-1473)Cct>Gct	p.P491A	PPP2R5C_uc010txr.2_Missense_Mutation_p.P522A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.P507A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.P452A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	491					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R490C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGGACCGTCCTCTTGCACG	0.552000														374			6		0	0	0.001984	0	0
SGMS1	259230	broad.mit.edu	37	10	52071078	52071078	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr10:52071078T>C	uc001jje.3	-	8	1793	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	SGMS1_uc010qhk.2_Missense_Mutation_p.Y111C|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Non-coding_Transcript|SGMS1_uc021pqo.1_3'UTR	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	286					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTGTACAGATAGTCCCCACA	0.453000														58			51		0	0	0.014410	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296712	25296712	+	RNA	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:25296712G>C	uc001yxg.3	+	0		c.90G>C								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		CATCGGAACTGAGGTCCAGCA	0.473000														91			81		0	0	0.014410	0	0
CLINT1	9685	broad.mit.edu	37	5	157240138	157240138	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr5:157240138C>G	uc003lxj.2	-	4	655	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CLINT1_uc003lxi.2_Missense_Mutation_p.K132N|CLINT1_uc011ddv.2_Missense_Mutation_p.K150N	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	150					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTGCTTTCTTTCGCTCTT	0.423000														73			70		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57004337	57004337	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:57004337G>C	uc001njo.3	-	0	591	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	48						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGAGCACCAGACCGTTGCCC	0.592000														72			62		0	0	0.014410	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	-	-	rs66614970	by1000genomes	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	uc001blw.3	-	15	1783_1806	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_uc001bly.3_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blx.3_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.3_In_Frame_Del_p.GPGPGPSP471del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													---	116	---	---	8	---					
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	-	-	rs1134580		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr1:26608878_26608883delCCGGGA	uc001blw.3	-	15	1743_1748	c.1470_1475delTCCCGG	c.(1468-1476)ggtcccggc>ggc	p.490_492GPG>G	UBXN11_uc001bly.3_In_Frame_Del_p.370_372GPG>G|UBXN11_uc001blz.1_In_Frame_Del_p.457_459GPG>G|UBXN11_uc001blx.3_In_Frame_Del_p.248_250GPG>G|UBXN11_uc001bma.3_In_Frame_Del_p.457_459GPG>G	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													---	126	---	---	50	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	-	-	rs146316187		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr3:10088407_10088410delAGTA	uc003buw.3	+	15	1356	c.1278_splice	c.e15+1	p.L426_splice	FANCD2_uc003bux.1_Splice_Site_p.L426_splice|FANCD2_uc003buy.1_Splice_Site_p.L426_splice|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	82	---	---	25	---					
SMPD2	6610	broad.mit.edu	37	6	109763791	109763791	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:109763791delC	uc003pti.3	+	5	848	c.454delC	c.(454-456)cgtfs	p.R152fs	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	152					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.R152C(2)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCTAGCACATCGTGTGGCCCA	0.537													---	148	---	---	100	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	-	-	rs3018444	byFrequency	TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr8:103572984_103572992delTGCAGCCCC	uc003ykt.2	+	1	733_741	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													---	102	---	---	17	---					
CORO1B	57175	broad.mit.edu	37	11	67207603	67207603	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:67207603delC	uc001oll.2	-	8	1126	c.993delG	c.(991-993)aagfs	p.K331fs	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Frame_Shift_Del_p.K331fs|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	331					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGATCTCGCACTTGCTGACCT	0.622													---	96	---	---	78	---					
TCRA	0	broad.mit.edu	37	14	22476138	22476141	+	Frame_Shift_Del	DEL	AGGT	-	-	rs34929909		TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr14:22476138_22476141delAGGT	uc001wcu.4	+	1	172_175	c.74_77delAGGT	c.(73-78)aaggtafs	p.K25fs	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Frame_Shift_Del_p.K25fs|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_Frame_Shift_Del_p.R136fs					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		ATGGCTCAGAAGGTAACTCAAGCG	0.412													---	4	---	---	5	---					
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	G	G			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	23886794-9d4c-4511-82ee-830db88796d5	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569													---	674	---	---	7	---					
SMPD2	6610	broad.mit.edu	37	6	109763791	109763791	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:109763791delC	uc003pti.3	+	5	848	c.454delC	c.(454-456)cgtfs	p.R152fs	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	152					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.R152C(2)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CCTAGCACATCGTGTGGCCCA	0.537													---	143	---	---	117	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr6:146350671_146350672insT	uc010khw.1	+	1	488_489	c.18_19insT	c.(16-21)ttgtttfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													---	363	---	---	8	---					
CORO1B	57175	broad.mit.edu	37	11	67207603	67207603	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	23886794-9d4c-4511-82ee-830db88796d5	g.chr11:67207603delC	uc001oll.2	-	8	1126	c.993delG	c.(991-993)aagfs	p.K331fs	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Frame_Shift_Del_p.K331fs|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	331					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGATCTCGCACTTGCTGACCT	0.622													---	74	---	---	65	---					
CORO1B	57175	broad.mit.edu	37	11	67207603	67207603	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1252-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1acb9bbe-a10a-44f8-a959-4eee82714570	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:67207603delC	uc001oll.2	-	8	1126	c.993delG	c.(991-993)aagfs	p.K331fs	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Frame_Shift_Del_p.K331fs|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	331					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGATCTCGCACTTGCTGACCT	0.622													---	96	---	---	78	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													---	196	---	---	9	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	A	A	rs145334816		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr6:46660414_46660415insA	uc003oyj.3	+	0	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													---	221	---	---	7	---					
ZNF367	195828	broad.mit.edu	37	9	99180257	99180258	+	In_Frame_Ins	INS	-	GGG	GGG			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr9:99180257_99180258insGGG	uc004awf.3	-	0	412_413	c.57_58insCCC	c.(55-60)insCCC	p.19_20insP	ZNF367_uc004awg.3_In_Frame_Ins_p.19_20insP	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CAGAAGATGACGggcggcggcg	0.757													---	4	---	---	3	---					
CORO1B	57175	broad.mit.edu	37	11	67207603	67207603	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr11:67207603delC	uc001oll.2	-	8	1126	c.993delG	c.(991-993)aagfs	p.K331fs	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Frame_Shift_Del_p.K331fs|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	331					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGATCTCGCACTTGCTGACCT	0.622													---	74	---	---	65	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													---	19	---	---	8	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr15:59182564_59182565delCT	uc002afp.3	-	14	2082_2083	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													---	396	---	---	10	---					
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	-	-	rs61734492	byFrequency	TCGA-B3-4104-01A-01D-1458-08	TCGA-B3-4104-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368382d0-ad7f-4735-b04a-e806d2a2d9a4	30b05e92-5b2e-4c1c-9c29-cde6dc5a94e1	g.chr19:54723027_54723029delCGT	uc010erh.1	-	8	1570_1572	c.1446_1448delACG	c.(1444-1449)cgacgt>cgt	p.482_483RR>R	LILRB3_uc002qee.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qef.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeh.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qek.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qep.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeq.1_In_Frame_Del_p.465_466RR>R	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	465					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606													---	68	---	---	9	---					
