Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTPN2	5771	broad.mit.edu	37	18	12817283	12817283	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:12817283G>A	ENST00000309660.5	-	6	670	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	PTPN2_ENST00000353319.4_Missense_Mutation_p.L193F|PTPN2_ENST00000327283.3_Missense_Mutation_p.L193F|PTPN2_ENST00000591497.1_Missense_Mutation_p.L164F|PTPN2_ENST00000591115.1_Missense_Mutation_p.L216F	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	193	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAAATTGAGAAATGAAGCT	0.453000													19	64					0	0	0.008871	0	0
CCDC57	284001	broad.mit.edu	37	17	80129690	80129690	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80129690T>C	ENST00000392347.1	-	12	1805	c.1769A>G	c.(1768-1770)aAg>aGg	p.K590R	CCDC57_ENST00000392343.3_Missense_Mutation_p.K590R|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.K590R	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	590										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AAACTTATGCTTTAGAGTTCG	0.448000													19	68					0	0	0.008871	0	0
DAAM1	23002	broad.mit.edu	37	14	59798071	59798071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:59798071C>G	ENST00000395125.1	+	13	1728	c.1705C>G	c.(1705-1707)Ctc>Gtc	p.L569V	DAAM1_ENST00000351081.1_Missense_Mutation_p.L569V|DAAM1_ENST00000360909.3_Missense_Mutation_p.L569V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	569	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		accgcctcccctccctccagg	0.642000													8	19					0	0	0.006214	0	0
NT5C1B	93034	broad.mit.edu	37	2	18767631	18767631	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:18767631C>T	ENST00000304081.4	-	3	247	c.147G>A	c.(145-147)aaG>aaA	p.K49K	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Silent_p.K109K|NT5C1B_ENST00000359846.2_Silent_p.K109K|NT5C1B-RDH14_ENST00000532967.1_Silent_p.K109K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAGAGTCTGTCTTCCGCAGTG	0.498000													6	46					0	0	0.021553	0	0
TSGA10	80705	broad.mit.edu	37	2	99726007	99726007	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:99726007T>C	ENST00000410001.1	-	0	523				TSGA10_ENST00000393483.3_Intron|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Intron|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000539964.1_De_novo_Start_OutOfFrame			Q9BZW7	TSG10_HUMAN	testis specific, 10						spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GCTTTTTCAGTATCTAAAATT	0.318000													6	13					0	0	0.021553	0	0
AGRN	375790	broad.mit.edu	37	1	982024	982024	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:982024G>A	ENST00000379370.2	+	18	3209	c.3159G>A	c.(3157-3159)gtG>gtA	p.V1053V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1053	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGCCTGGTGGCGTCCGCCT	0.687000													11	10					0	0	0.008291	0	0
CHD6	84181	broad.mit.edu	37	20	40040857	40040857	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:40040857G>C	ENST00000373233.3	-	36	7355	c.7178C>G	c.(7177-7179)cCt>cGt	p.P2393R	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2393					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAATTTTCCAGGTTCTTTACA	0.488000													11	70					0	0	0.010729	0	0
PURB	5814	broad.mit.edu	37	7	44924294	44924294	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:44924294C>A	ENST00000395699.2	-	1	666	c.654G>T	c.(652-654)gaG>gaT	p.E218D		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	218	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCTCCGGGAGCTCTCCATACA	0.667000													14	50					4.3838e-07	4.76886e-07	0.016723	1	0
CHST9	83539	broad.mit.edu	37	18	24497019	24497019	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:24497019C>A	ENST00000284224.8	-	6	813	c.536G>T	c.(535-537)aGg>aTg	p.R179M	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.R179M|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	179					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AAGGAAAGACCTTCGTTTCTC	0.383000													17	82					1.15088e-07	1.26048e-07	0.028581	1	0
NMNAT1	64802	broad.mit.edu	37	1	10042404	10042404	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:10042404C>T	ENST00000377205.1	+	5	629	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	162					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTATTGGAGTCCTTTGCTGTT	0.478000													24	87					0	0	0.021523	0	0
RGS17	26575	broad.mit.edu	37	6	153347672	153347672	+	Silent	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:153347672A>T	ENST00000367225.2	-	2	150	c.126T>A	c.(124-126)acT>acA	p.T42T	RGS17_ENST00000206262.1_Silent_p.T42T			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	42					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CATTCCTCACAGTGAGGCTGT	0.403000													26	59					0	0	0.021523	0	0
TAZ	6901	broad.mit.edu	37	X	153649016	153649016	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:153649016G>A	ENST00000299328.5	+	10	1008	c.719G>A	c.(718-720)gGg>gAg	p.G240E	TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369790.4_Missense_Mutation_p.G196E|TAZ_ENST00000350743.4_Missense_Mutation_p.G210E|TAZ_ENST00000351413.4_Missense_Mutation_p.G226E|TAZ_ENST00000369776.4_Missense_Mutation_p.G210E	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	240					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGCTGATCGGGAAGCCCTTC	0.642000													18	19					0	0	0.038395	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825898	102825898	+	RNA	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:102825898C>G	ENST00000312132.4	-	0	3799																											AAGTCTGCATCTTCGTAATGT	0.418000													3	24					0	0	0.009096	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10560266	10560266	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:10560266T>C	ENST00000539300.1	-	4	436	c.437A>G	c.(436-438)gAt>gGt	p.D146G	KLRC4_ENST00000309384.1_Missense_Mutation_p.I155V																							AGAAAGCAGATCAGAGTTCTT	0.343000													56	109					0	0	0.014410	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175175	193175175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:193175175G>C	ENST00000342695.4	-	15	2076	c.1754C>G	c.(1753-1755)gCc>gGc	p.A585G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A566G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	585					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACCTGGCTGGCTGTTCTGCA	0.483000													19	281					0	0	0.016522	0	0
GSTO1	9446	broad.mit.edu	37	10	106027062	106027062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:106027062G>A	ENST00000539281.1	+	6	897	c.541G>A	c.(541-543)Gat>Aat	p.D181N	GSTO1_ENST00000369710.4_Missense_Mutation_p.D176N|GSTO1_ENST00000369713.5_Missense_Mutation_p.D209N	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	209	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	CATGAAGGAAGATCCCACAGT	0.493000													15	30					0	0	0.020292	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702586	27702586	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27702586G>A	ENST00000438700.3	-	1	711	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	198					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCTGGAGGCGGAGAAGCGGT	0.602000													4	131					0	0	0.014758	0	0
LMTK2	22853	broad.mit.edu	37	7	97816267	97816267	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:97816267G>A	ENST00000297293.5	+	9	1248	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	319	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCTTTCAAGACAGACTGCT	0.373000													11	100					0	0	0.010729	0	0
ECT2L	345930	broad.mit.edu	37	6	139223693	139223693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:139223693G>A	ENST00000423192.1	+	21	2805	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E882K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E736K			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	882					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTGCTACAGAAATAGAGGA	0.368000			"""N, Splice, Mis"""		ETP ALL								12	37					0	0	0.010729	0	0
DMD	1756	broad.mit.edu	37	X	31497125	31497125	+	Silent	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:31497125T>C	ENST00000357033.4	-	58	8849	c.8643A>G	c.(8641-8643)ctA>ctG	p.L2881L	DMD_ENST00000343523.2_Silent_p.L421L|DMD_ENST00000359836.1_Silent_p.L421L|DMD_ENST00000474231.1_Silent_p.L421L|DMD_ENST00000378707.3_Silent_p.L421L|DMD_ENST00000541735.1_Silent_p.L421L|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2877L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2881					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAGTTTCTCTAGTCCTTCCA	0.428000													14	9					0	0	0.020292	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212225	26212225	+	Missense_Mutation	SNP	G	G	T	rs140212002		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:26212225G>T	ENST00000379034.1	+	2	411	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	88	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.542000													10	18					2.80697e-09	3.1603e-09	0.010729	1	0
THAP9-AS1	100499177	broad.mit.edu	37	4	83821880	83821880	+	RNA	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:83821880C>G	ENST00000504520.2	-	0	233					NR_034076.1																						GCCGCAGAGTCAACGGGCGGA	0.607000													14	24					0	0	0.020292	0	0
KCNH3	23416	broad.mit.edu	37	12	49934900	49934900	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:49934900C>T	ENST00000257981.6	+	2	555	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	99	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGAGCTGATCCTGTACCGGAA	0.622000													5	45					0	0	0.014758	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915728	202915728	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:202915728C>T	ENST00000340990.5	-	4	567	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G90E|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.G90E	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	90					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTCCAACGTCCCTCCCAGAC	0.502000													9	44					0	0	0.006214	0	0
RFNG	5986	broad.mit.edu	37	17	80007651	80007651	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80007651C>T	ENST00000310496.4	-	6	737	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.V118M	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	244					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGCCCCTCCACGATGTAGCCA	0.667000													7	18					0	0	0.006214	0	0
ZNF768	79724	broad.mit.edu	37	16	30537662	30537662	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537662C>G	ENST00000380412.5	-	1	248	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	25					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGGTACCCTTCGGGGCTCCTC	0.711000													4	22					0	0	0.009096	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	27					0	0	0.029380	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72056924	72056924	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:72056924C>A	ENST00000378743.3	-	1	825	c.467G>T	c.(466-468)cGc>cTc	p.R156L	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R156L|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R156L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	156					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGACTCCAGCGACTCCCACC	0.667000													13	126					0.000308642	0.00032478	0.024245	1	0
RNF133	168433	broad.mit.edu	37	7	122338545	122338545	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:122338545A>C	ENST00000340112.2	-	1	665	c.428T>G	c.(427-429)tTt>tGt	p.F143C	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	143	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGCCTGATGAAACATGGGGAA	0.423000													32	58					0	0	0.041601	0	0
ESCO1	114799	broad.mit.edu	37	18	19154819	19154819	+	Translation_Start_Site	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr18:19154819T>A	ENST00000269214.5	-	0	923					NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1						cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GAGTAATGACTTTCTTTTCTG	0.358000													4	15					0	0	0.009096	0	0
OTOGL	283310	broad.mit.edu	37	12	80623099	80623099	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:80623099C>G	ENST00000458043.2	+	7	531	c.525C>G	c.(523-525)ttC>ttG	p.F175L	OTOGL_ENST00000547103.1_Missense_Mutation_p.F175L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCAGCTTGTTCTTTTCAAACC	0.358000													9	83					0	0	0.004482	0	0
HTR5A	3361	broad.mit.edu	37	7	154863070	154863070	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:154863070G>A	ENST00000287907.2	+	1	1037	c.461G>A	c.(460-462)cGc>cAc	p.R154H	AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	154						integral to plasma membrane	serotonin receptor activity	p.R154H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCCGCACCCGCAAGTGCGTC	0.617000													9	25					0	0	0.006214	0	0
SIL1	64374	broad.mit.edu	37	5	138362615	138362615	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:138362615G>C	ENST00000394817.2	-	6	659	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	SIL1_ENST00000265195.5_Missense_Mutation_p.L174V|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.L181V	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	174	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAACATTCAGCTCATCAAAG	0.468000									Marinesco-Sjgren syndrome				9	40					0	0	0.006214	0	0
MRPS22	56945	broad.mit.edu	37	3	139067116	139067116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:139067116G>A	ENST00000495075.1	+	5	886	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	MRPS22_ENST00000478464.1_Missense_Mutation_p.E111K|MRPS22_ENST00000465056.1_Missense_Mutation_p.E151K|MRPS22_ENST00000310776.4_Missense_Mutation_p.E152K			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	152						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGAAGGAACAGAAACAACCAA	0.363000													38	73					0	0	0.030466	0	0
GCC2	9648	broad.mit.edu	37	2	109088215	109088215	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:109088215G>C	ENST00000309863.6	+	6	3144	c.2430G>C	c.(2428-2430)gaG>gaC	p.E810D		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	810					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGTATTAGAGTTAGAAAAAG	0.363000													18	55					0	0	0.033300	0	0
SHB	6461	broad.mit.edu	37	9	37948721	37948721	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:37948721G>A	ENST00000377707.3	-	5	1822	c.1257C>T	c.(1255-1257)gaC>gaT	p.D419D	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	419	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTTCTCGGCGTCTCCTCTGC	0.607000													7	107					0	0	0.029380	0	0
KRT80	144501	broad.mit.edu	37	12	52566069	52566069	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:52566069C>A	ENST00000313234.5	-	7	1188	c.1091G>T	c.(1090-1092)cGc>cTc	p.R364L	KRT80_ENST00000394815.2_Missense_Mutation_p.R364L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	364	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTGGTACTTGCGCAGCTGCCG	0.657000													4	87					0.014758	0.0153293	0.014758	1	0
PURB	5814	broad.mit.edu	37	7	44924293	44924293	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:44924293G>A	ENST00000395699.2	-	1	667	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	219	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCCTCCGGGAGCTCTCCATAC	0.667000													15	50					0	0	0.020292	0	0
SMC1A	8243	broad.mit.edu	37	X	53421731	53421731	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:53421731C>G	ENST00000322213.4	-	19	3067	c.2940G>C	c.(2938-2940)gaG>gaC	p.E980D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	980					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGTAGTCAATCTCAATGAGGG	0.542000													4	26					0	0	0.014758	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	89					0	0	0.021553	0	0
KLHDC10	23008	broad.mit.edu	37	7	129761910	129761910	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:129761910A>G	ENST00000335420.5	+	5	781	c.647A>G	c.(646-648)aAt>aGt	p.N216S		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	216										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCCATCATCAATGGCTCCCTT	0.418000													7	32					0	0	0.029380	0	0
ITGB8	3696	broad.mit.edu	37	7	20441678	20441678	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:20441678G>T	ENST00000222573.3	+	10	2300	c.1616G>T	c.(1615-1617)gGa>gTa	p.G539V	ITGB8_ENST00000537992.1_Missense_Mutation_p.G404V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	539	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATTAAGCTTGGAAAAGTGTAT	0.388000													28	101					5.77227e-19	6.73432e-19	0.037714	1	0
XKRX	402415	broad.mit.edu	37	X	100169656	100169656	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:100169656C>A	ENST00000328526.5	-	3	1625	c.1060G>T	c.(1060-1062)Gac>Tac	p.D354Y	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.D341Y	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	341						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGCCCTTTGTCGACGAGATCT	0.478000													60	66					5.08636e-23	5.97741e-23	0.014410	1	0
SHOC2	8036	broad.mit.edu	37	10	112724421	112724421	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:112724421C>G	ENST00000369452.4	+	2	650	c.305C>G	c.(304-306)tCa>tGa	p.S102*	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S102*	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	102					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAAGAGAATTCAATGCGTTTG	0.383000													16	63					0	0	0.028581	0	0
SLC9A2	6549	broad.mit.edu	37	2	103321047	103321047	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:103321047G>C	ENST00000233969.2	+	10	2032	c.1890G>C	c.(1888-1890)gaG>gaC	p.E630D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	630						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACACAAGTGAGAGACAAGCCA	0.428000													5	28					0	0	0.021553	0	0
CLUH	23277	broad.mit.edu	37	17	2604528	2604528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:2604528C>T	ENST00000570628.1	-	7	922	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	CLUH_ENST00000575014.1_Missense_Mutation_p.A205T|CLUH_ENST00000435359.1_Missense_Mutation_p.A273T|CLUH_ENST00000538975.1_Missense_Mutation_p.A273T					clustered mitochondria (cluA/CLU1) homolog																		CGGGGGCTGGCGGGCTTGGGG	0.622000													5	17					0	0	0.014758	0	0
MINK1	50488	broad.mit.edu	37	17	4789867	4789867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4789867C>T	ENST00000355280.6	+	10	1091	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MINK1_ENST00000347992.7_Missense_Mutation_p.R299C|MINK1_ENST00000453408.3_Missense_Mutation_p.R299C	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	299					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCGGCAGGTCCGCATCCAGCT	0.602000													20	46					0	0	0.008871	0	0
NCBP2L	392517	broad.mit.edu	37	X	107037501	107037501	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:107037501C>T	ENST00000372379.1	+	1	51	c.51C>T	c.(49-51)agC>agT	p.S17S	RP5-820B18.3_ENST00000509000.1_RNA					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TGGAGCTGAGCTGCTACCGGG	0.473000													14	12					0	0	0.016723	0	0
ZNF367	195828	broad.mit.edu	37	9	99150720	99150720	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:99150720C>T	ENST00000375256.4	-	5	1148	c.852G>A	c.(850-852)caG>caA	p.Q284Q		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	284					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)				TGGGGGTGCGCTGCTCTCTCA	0.438000													24	41					0	0	0.016522	0	0
PHF12	57649	broad.mit.edu	37	17	27248731	27248731	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:27248731C>A	ENST00000577226.1	-	5	1157	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F	PHF12_ENST00000332830.4_Missense_Mutation_p.V271F|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.V271F			Q96QT6	PHF12_HUMAN	PHD finger protein 12	271	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGACTTTGACGGGTAAGGGA	0.408000													29	73					2.70662e-09	3.06877e-09	0.041601	1	0
ZMYM6	9204	broad.mit.edu	37	1	35476586	35476586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:35476586G>A	ENST00000357182.4	-	9	1341	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q372*|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q372*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	372					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ACTTGGCCCTGAGACAGGGGC	0.488000													12	48					0	0	0.028581	0	0
ATR	545	broad.mit.edu	37	3	142168296	142168296	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:142168296T>C	ENST00000350721.4	-	47	8031	c.7910A>G	c.(7909-7911)tAt>tGt	p.Y2637C	ATR_ENST00000383101.3_Missense_Mutation_p.Y2573C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2637	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAACCAAGATACATCTGGCA	0.338000								Other conserved DNA damage response genes					15	91					0	0	0.033300	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543067	21543067	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:21543067G>T	ENST00000298694.4	+	3	1305	c.1178G>T	c.(1177-1179)cGa>cTa	p.R393L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R393L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	393	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCTCTTAGCCGAGGAGGGGAC	0.607000													13	32					2.61681e-11	2.98799e-11	0.020292	1	0
MYOF	26509	broad.mit.edu	37	10	95069804	95069804	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:95069804G>A	ENST00000371501.4	-	53	6242	c.6120C>T	c.(6118-6120)ttC>ttT	p.F2040F	MYOF_ENST00000371502.4_Silent_p.F2030F|MYOF_ENST00000359263.4_Silent_p.F2040F|MYOF_ENST00000358334.5_Silent_p.F2027F			Q9NZM1	MYOF_HUMAN	myoferlin	2040					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCACGGCCACGAAGAGCAGCA	0.552000													5	30					0	0	0.014758	0	0
COQ4	51117	broad.mit.edu	37	9	131088088	131088088	+	Silent	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:131088088C>G	ENST00000300452.3	+	4	653	c.330C>G	c.(328-330)ctC>ctG	p.L110L	COQ4_ENST00000372875.3_Silent_p.L110L	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	110					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CATCCACCCTCGACCTGGGCA	0.582000													13	31					0	0	0.016723	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268842	30268842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:30268842G>T	ENST00000378981.3	+	4	553	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.E78*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.E78*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	78										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTCATGTACCGAATCTGACGA	0.552000													5	8					1.23904e-05	1.3211e-05	0.014758	1	0
CSMD1	64478	broad.mit.edu	37	8	3087643	3087643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:3087643G>A	ENST00000602557.1	-	28	4822	c.4267C>T	c.(4267-4269)Cag>Tag	p.Q1423*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1422*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1423	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTGGAGCTGATAGCCAGGG	0.517000													10	16					0	0	0.013537	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455195	4455195	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:4455195C>T	ENST00000254718.4	-	8	1309	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E335K			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	335	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACACGTGCTCCCCGTAATGG	0.627000													6	74					0	0	0.021553	0	0
TRIM68	55128	broad.mit.edu	37	11	4626315	4626315	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:4626315C>G	ENST00000300747.5	-	2	709	c.420G>C	c.(418-420)gaG>gaC	p.E140D		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	140					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACCTTGTACTCCCAGGCAA	0.547000													5	29					0	0	0.014758	0	0
KMT2C	58508	broad.mit.edu	37	7	151874913	151874913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:151874913G>A	ENST00000355193.2	-	38	7843	c.7625C>T	c.(7624-7626)tCa>tTa	p.S2542L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S2542L					lysine (K)-specific methyltransferase 2C																		GCTCTGTGGTGAAAAATGCTG	0.453000													40	71					0	0	0.025465	0	0
OBSCN	84033	broad.mit.edu	37	1	228557643	228557643	+	Splice_Site	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:228557643C>G	ENST00000570156.2	+	102	22913	c.22838_splice	c.e102-1	p.S7613_splice	OBSCN_ENST00000422127.1_Splice_Site_p.S6656_splice|OBSCN_ENST00000366707.4_Splice_Site_p.S4290_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6656	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCTTCAGCCTGACCTGCT	0.622000													45	36					0	0	0.014410	0	0
COG7	91949	broad.mit.edu	37	16	23444886	23444886	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:23444886G>C	ENST00000307149.5	-	6	975	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	264					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CACTGGATTTGTGTGTGCCAA	0.547000													3	40					0	0	0.004672	0	0
LRCH3	84859	broad.mit.edu	37	3	197585726	197585726	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:197585726G>C	ENST00000438796.2	+	15	1710	c.1666G>C	c.(1666-1668)Gtg>Ctg	p.V556L	LRCH3_ENST00000441090.2_Missense_Mutation_p.V402L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.V556L|LRCH3_ENST00000536618.1_Missense_Mutation_p.V151L|LRCH3_ENST00000425562.2_Missense_Mutation_p.V556L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	556						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTTGAATCAAGTGGGCTGTGC	0.453000													40	134					0	0	0.045515	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583380	80583380	+	Splice_Site	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:80583380G>C	ENST00000305904.6	+	3	199		c.e3-1		DYNLRB2_ENST00000570222.1_Splice_Site|DYNLRB2_ENST00000562982.1_Splice_Site|RP11-525K10.3_ENST00000568776.1_RNA|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000568035.1_Intron	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2						microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						TTTCATAATAGGTATTCCCAT	0.338000													4	20					0	0	0.009096	0	0
ALMS1	7840	broad.mit.edu	37	2	73717132	73717132	+	Silent	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:73717132A>G	ENST00000264448.6	+	10	8154	c.8043A>G	c.(8041-8043)gaA>gaG	p.E2681E	ALMS1_ENST00000409009.1_Silent_p.E2639E	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2681					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCTGTCAGAATTAGTAGAAC	0.403000													24	143					0	0	0.024334	0	0
KLHL7	55975	broad.mit.edu	37	7	23191773	23191773	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:23191773G>A	ENST00000322231.7	+	8	1305	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KLHL7_ENST00000339077.4_Missense_Mutation_p.R294H|KLHL7_ENST00000539124.1_Missense_Mutation_p.R218H|KLHL7_ENST00000409689.1_Missense_Mutation_p.R246H|KLHL7_ENST00000542558.1_Missense_Mutation_p.R69H|KLHL7_ENST00000545443.1_Missense_Mutation_p.R272H			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	294						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATGACTACCGCATAGCCCTA	0.388000													9	52					0	0	0.006214	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329127	39329127	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39329127C>T	ENST00000594769.1	-	3	316	c.317G>A	c.(316-318)aGc>aAc	p.S106N	HNRNPL_ENST00000221419.5_Silent_p.E489E|HNRNPL_ENST00000600873.1_Silent_p.E356E																							TGGCTGCCTGCTCTGGGGTGG	0.572000													5	21					0	0	0.021553	0	0
UMOD	7369	broad.mit.edu	37	16	20362149	20362149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:20362149G>A	ENST00000396138.4	-	2	124	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000570689.1_Intron|UMOD_ENST00000424589.1_Intron|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000302509.4_Intron			P07911	UROM_HUMAN	uromodulin	0					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCTGTCTCTGATGTCTGGTG	0.488000													4	6					0	0	0.009096	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:197348634G>A	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													50	103					0	0	0.014410	0	0
MUC21	394263	broad.mit.edu	37	6	30954739	30954739	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:30954739A>C	ENST00000376296.3	+	2	1028	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	263	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GTCCAGCACGACCTCCAGTGG	0.632000													9	177					0	0	0.038395	0	0
RAI14	26064	broad.mit.edu	37	5	34823598	34823598	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:34823598G>C	ENST00000265109.3	+	15	1938	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	RAI14_ENST00000512629.1_Missense_Mutation_p.E522Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E544Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E543Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E551Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E551Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E554Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	551						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					aagaaataaagagaaagtgag	0.393000													3	44					0	0	0.004672	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830203	23830203	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:23830203C>T	ENST00000264867.2	-	5	696	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	193					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATACTCTTCGCTTTATTGCTC	0.413000													3	87					0	0	0.009096	0	0
VCP	7415	broad.mit.edu	37	9	35059698	35059698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35059698C>T	ENST00000358901.6	-	14	2691	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	599					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTTGATGACTCGGTCAGCAGC	0.522000													18	87					0	0	0.043863	0	0
KIAA1432	57589	broad.mit.edu	37	9	5773076	5773076	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:5773076G>C	ENST00000414202.2	+	25	4170	c.3979G>C	c.(3979-3981)Gac>Cac	p.D1327H	KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1248H|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1211H	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1327						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGCCTCTACAGACTGGTAAGT	0.443000													6	25					0	0	0.021553	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814630	106814630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:106814630C>T	ENST00000407775.2	+	8	2570	c.2320C>T	c.(2320-2322)Caa>Taa	p.Q774*	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q505*|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	774					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACCTCCACTCAAGAACCCAC	0.463000													4	27					0	0	0.009096	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													3	57					0	0	0.009096	0	0
PASD1	139135	broad.mit.edu	37	X	150817138	150817138	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:150817138A>C	ENST00000370357.4	+	9	926	c.681A>C	c.(679-681)gaA>gaC	p.E227D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	227						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGTTGAACCCgctgctg	0.433000													10	74					0	0	0.012319	0	0
ANKRD26	22852	broad.mit.edu	37	10	27326225	27326225	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:27326225T>A	ENST00000376087.4	-	23	2752	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	ANKRD26_ENST00000436985.2_Missense_Mutation_p.R879W|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R420W	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	862						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAAAGTTGCCTCTGAGCGTCA	0.358000													42	121					0	0	0.014410	0	0
LRFN5	145581	broad.mit.edu	37	14	42356226	42356226	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:42356226A>G	ENST00000554171.1	+	5	2830	c.398A>G	c.(397-399)aAt>aGt	p.N133S	LRFN5_ENST00000554120.1_Missense_Mutation_p.N133S|LRFN5_ENST00000298119.4_Missense_Mutation_p.N133S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	133						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGAACAACAATCAGCTGACT	0.373000										HNSCC(30;0.082)			15	47					0	0	0.028581	0	0
SI	6476	broad.mit.edu	37	3	164786949	164786949	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:164786949G>A	ENST00000264382.3	-	4	352	c.290C>T	c.(289-291)cCg>cTg	p.P97L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	97	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCATTCCACGGCCTCCAGCA	0.373000										HNSCC(35;0.089)			6	48					0	0	0.021553	0	0
NDRG3	57446	broad.mit.edu	37	20	35293461	35293461	+	Silent	SNP	T	T	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:35293461T>G	ENST00000373803.2	-	12	854	c.798A>C	c.(796-798)gcA>gcC	p.A266A	NDRG3_ENST00000540765.1_Silent_p.A162A|NDRG3_ENST00000373773.3_Silent_p.A171A|NDRG3_ENST00000359675.2_Silent_p.A254A|NDRG3_ENST00000349004.1_Silent_p.A266A			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	266					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CAGCCTCAACTGCAGGCGAAT	0.458000													46	93					0	0	0.014410	0	0
KMT2D	8085	broad.mit.edu	37	12	49428364	49428364	+	Splice_Site	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:49428364C>T	ENST00000301067.7	-	36	10440		c.e36+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGACCACTTACCTGGCCACTC	0.562000													4	11					0	0	0.021553	0	0
DSCR10	259234	broad.mit.edu	37	21	39580540	39580540	+	RNA	SNP	T	T	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr21:39580540T>G	ENST00000432141.1	+	0	662					NR_027695.1																						TATGTGTGTGTGGGTTTGCCA	0.418000													40	207					0	0	0.033182	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125603	12125603	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:12125603G>A	ENST00000379388.2	+	4	5907	c.5575G>A	c.(5575-5577)Gaa>Aaa	p.E1859K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1859					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAGGAATTTGAAAACATCAA	0.338000													37	44					0	0	0.025465	0	0
MYSM1	114803	broad.mit.edu	37	1	59147830	59147830	+	Silent	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:59147830G>A	ENST00000472487.1	-	8	925	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	296					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCAGTCCACAGTGTAATTTCT	0.363000													13	109					0	0	0.016723	0	0
PA2G4	5036	broad.mit.edu	37	12	56504208	56504208	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:56504208G>A	ENST00000303305.6	+	8	1074	c.655G>A	c.(655-657)Gag>Aag	p.E219K	PA2G4_ENST00000552766.1_Missense_Mutation_p.E219K|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	219					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGCTGAATTTGAGGTACATGA	0.443000													7	55					0	0	0.038147	0	0
OAS3	4940	broad.mit.edu	37	12	113388618	113388618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:113388618G>A	ENST00000228928.7	+	7	1674	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	499	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GATCCTTGATGAGATGCGAGC	0.572000													32	55					0	0	0.015359	0	0
ZNF768	79724	broad.mit.edu	37	16	30537672	30537672	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537672C>T	ENST00000380412.5	-	1	238	c.63G>A	c.(61-63)atG>atA	p.M21I	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	21					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGGGCTCCTCATTTCGTCAG	0.701000													5	23					0	0	0.014758	0	0
MAX	4149	broad.mit.edu	37	14	65544653	65544653	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65544653C>G	ENST00000284165.6	-	4	421	c.273G>C	c.(271-273)caG>caC	p.Q91H	MAX_ENST00000555419.1_Missense_Mutation_p.Q55H|MAX_ENST00000358402.4_Missense_Mutation_p.Q82H|MAX_ENST00000358664.4_Missense_Mutation_p.Q91H|MAX_ENST00000557746.1_Missense_Mutation_p.Q82H|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Missense_Mutation_p.Q91H|MAX_ENST00000556443.1_Missense_Mutation_p.Q82H|MAX_ENST00000341653.2_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q82H	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	91	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GAAGAGCATTCTGCCGCTTGA	0.567000													18	32					0	0	0.008871	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			15	21					0	0	0.024245	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:142718314C>T	ENST00000381779.4	-	2	836	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral to membrane		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428000													25	54					0	0	0.021523	0	0
ABCF1	23	broad.mit.edu	37	6	30547713	30547713	+	Silent	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:30547713A>G	ENST00000326195.8	+	7	607	c.495A>G	c.(493-495)gtA>gtG	p.V165V	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.V165V	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	165	Glu-rich.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCAGGCCGTATCTGAGGAAC	0.433000													7	8					0	0	0.029380	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472703	27472703	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:27472703C>T	ENST00000356183.4	-	37	6313	c.6298G>A	c.(6298-6300)Gag>Aag	p.E2100K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2075K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2100						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGTTGACCTCGTGGGGGAAC	0.652000													10	40					0	0	0.008291	0	0
BCORL1	63035	broad.mit.edu	37	X	129147536	129147536	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:129147536C>T	ENST00000540052.1	+	3	832	c.788C>T	c.(787-789)cCg>cTg	p.P263L	BCORL1_ENST00000303743.5_Missense_Mutation_p.P263L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P263L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P263L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	263	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAGCGCCACCGTCAGTGCCC	0.627000													16	49					0	0	0.033300	0	0
TEX2	55852	broad.mit.edu	37	17	62248511	62248511	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:62248511C>G	ENST00000258991.3	-	7	2725	c.2641G>C	c.(2641-2643)Gtg>Ctg	p.V881L	TEX2_ENST00000584379.1_Missense_Mutation_p.V874L|TEX2_ENST00000583097.1_Missense_Mutation_p.V874L			Q8IWB9	TEX2_HUMAN	testis expressed 2	874					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)		GGCACAGCCACGCCCATGTCA	0.448000													5	35					0	0	0.014758	0	0
MASP1	5648	broad.mit.edu	37	3	187003846	187003846	+	Splice_Site	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:187003846T>A	ENST00000337774.5	-	2	395		c.e2-2		MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCAGCCACCTGAAAGACATG	0.478000													13	39					0	0	0.016723	0	0
MYO1D	4642	broad.mit.edu	37	17	31094761	31094761	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:31094761T>C	ENST00000318217.5	-	7	1028	c.724A>G	c.(724-726)Aat>Gat	p.N242D	MYO1D_ENST00000394649.4_Missense_Mutation_p.N154D|MYO1D_ENST00000579584.1_Missense_Mutation_p.N242D|MYO1D_ENST00000583621.1_Missense_Mutation_p.N242D	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	242	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCAGCATCATTGATAGAAGAC	0.353000													24	39					0	0	0.014323	0	0
F8	2157	broad.mit.edu	37	X	154221234	154221234	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:154221234C>G	ENST00000360256.4	-	4	778	c.578G>C	c.(577-579)gGa>gCa	p.G193A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	193	F5/8 type A 1.|Plastocyanin-like 1.		G -> R (in HEMA; severe familial).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTAGGGCTCCAATGAGGCC	0.413000													3	79					0	0	0.004672	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017607	33017607	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:33017607T>A	ENST00000357505.6	-	7	1126	c.1022A>T	c.(1021-1023)tAt>tTt	p.Y341F	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.Y341F|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Y356F|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTAGTTGTATACACTTGTTC	0.378000													6	18					0	0	0.021553	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807560	41807560	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:41807560C>T	ENST00000392006.3	+	11	1811	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	HNRNPUL1_ENST00000602130.1_Silent_p.T546T|HNRNPUL1_ENST00000352456.3_Silent_p.T446T|HNRNPUL1_ENST00000595018.1_Silent_p.T446T|HNRNPUL1_ENST00000378215.4_Silent_p.T432T|HNRNPUL1_ENST00000593587.1_Silent_p.T446T|HNRNPUL1_ENST00000263367.3_Silent_p.T457T	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	546	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAAAGCGAACCGACGAGGAAG	0.483000													9	53					0	0	0.004482	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636535	121636535	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:121636535T>C	ENST00000393386.2	+	9	1439	c.1028T>C	c.(1027-1029)aTt>aCt	p.I343T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I343T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	343	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATACCATGATTGAGAAGTTT	0.408000													4	98					0	0	0.009096	0	0
OBSCN	84033	broad.mit.edu	37	1	228557645	228557645	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr1:228557645T>G	ENST00000570156.2	+	102	22915	c.22841T>G	c.(22840-22842)cTg>cGg	p.L7614R	OBSCN_ENST00000422127.1_Missense_Mutation_p.L6657R|OBSCN_ENST00000366707.4_Missense_Mutation_p.L4291R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6657	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTTCAGCCTGACCTGCTCA	0.622000													46	37					0	0	0.014410	0	0
RASA1	5921	broad.mit.edu	37	5	86670020	86670020	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:86670020T>A	ENST00000456692.2	+	14	1401	c.1286T>A	c.(1285-1287)cTc>cAc	p.L429H	RASA1_ENST00000274376.6_Missense_Mutation_p.L606H|RASA1_ENST00000512763.1_Missense_Mutation_p.L439H|RASA1_ENST00000506290.1_Missense_Mutation_p.L440H	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	606	SH2 2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCCCATAAACTCCCAGTAAAA	0.333000													7	11					0	0	0.029380	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	51					0	0	0.009096	0	0
VCP	7415	broad.mit.edu	37	9	35061650	35061650	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr9:35061650T>A	ENST00000358901.6	-	10	2013	c.1118A>T	c.(1117-1119)gAt>gTt	p.D373V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	373					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTGTAGCATCAGGAATTCC	0.478000													11	187					0	0	0.010729	0	0
COX18	285521	broad.mit.edu	37	4	73930982	73930982	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:73930982C>A	ENST00000295890.4	-	3	674	c.583G>T	c.(583-585)Gca>Tca	p.A195S	COX18_ENST00000507544.2_Missense_Mutation_p.A195S	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	195					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATGTGCTGCCCCCGTGCTT	0.378000													17	30					2.35188e-11	2.70466e-11	0.038395	1	0
MMP2	4313	broad.mit.edu	37	16	55523685	55523685	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:55523685A>G	ENST00000219070.4	+	7	1638	c.1129A>G	c.(1129-1131)Acc>Gcc	p.T377A	MMP2_ENST00000570308.1_Missense_Mutation_p.T301A|MMP2_ENST00000543485.1_Missense_Mutation_p.T301A|MMP2_ENST00000437642.2_Missense_Mutation_p.T327A	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	377	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GTGGTGTGCGACCACAGCCAA	0.592000													8	56					0	0	0.006214	0	0
LY6H	4062	broad.mit.edu	37	8	144239772	144239772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr8:144239772C>G	ENST00000414417.2	-	5	614	c.381G>C	c.(379-381)gaG>gaC	p.E127D	LY6H_ENST00000430474.2_Missense_Mutation_p.E106D|LY6H_ENST00000342752.4_Missense_Mutation_p.E127D	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	106					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACAAATCCTTCTCGCAGCAGT	0.612000													5	49					0	0	0.014758	0	0
ZNF445	353274	broad.mit.edu	37	3	44488834	44488834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:44488834G>C	ENST00000425708.2	-	7	2670	c.2329C>G	c.(2329-2331)Ctc>Gtc	p.L777V	ZNF445_ENST00000396077.2_Missense_Mutation_p.L777V			P59923	ZN445_HUMAN	zinc finger protein 445	777					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGATGAGGAGGAATGAGTGA	0.512000													21	20					0	0	0.010504	0	0
HADHA	3030	broad.mit.edu	37	2	26438045	26438045	+	Splice_Site	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:26438045C>T	ENST00000380649.3	-	8	806		c.e8-1		HADHA_ENST00000457468.2_Splice_Site	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGTCCTGGTCCTATAAAAATG	0.438000													23	105					0	0	0.016522	0	0
SEC23B	10483	broad.mit.edu	37	20	18511339	18511339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:18511339G>T	ENST00000336714.3	+	10	1557	c.1125G>T	c.(1123-1125)atG>atT	p.M375I	SEC23B_ENST00000377475.3_Missense_Mutation_p.M375I|SEC23B_ENST00000377465.1_Missense_Mutation_p.M375I|SEC23B_ENST00000262544.2_Missense_Mutation_p.M375I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	375					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ACATGGTAATGGGAGATTCTT	0.343000													6	73					1.06961e-07	1.18764e-07	0.038147	1	0
SNHG14	104472715	broad.mit.edu	37	15	25332820	25332820	+	RNA	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr15:25332820G>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-21_ENST00000384529.1_lincRNA	NR_003361.1																						GATCGATGATGACTTCCATAT	0.438000													16	84					3.52763e-06	3.81174e-06	0.033300	1	0
BIRC7	79444	broad.mit.edu	37	20	61869950	61869950	+	Silent	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:61869950C>G	ENST00000217169.3	+	4	775	c.561C>G	c.(559-561)gcC>gcG	p.A187A	BIRC7_ENST00000395306.1_Silent_p.A100A|BIRC7_ENST00000342412.6_Silent_p.A187A	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	187					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AAGACGCAGCCCCTGTGGCCC	0.677000													4	86					0	0	0.009096	0	0
COL21A1	81578	broad.mit.edu	37	6	55922598	55922598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:55922598C>G	ENST00000244728.5	-	30	3128	c.2731G>C	c.(2731-2733)Gac>Cac	p.D911H	COL21A1_ENST00000535941.1_Missense_Mutation_p.D911H|COL21A1_ENST00000370819.1_Missense_Mutation_p.D908H|COL21A1_ENST00000370808.2_Missense_Mutation_p.D277H|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	911					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGACCTGGGTCTCCTGGAGGA	0.498000													8	11					0	0	0.004482	0	0
BMI1	648	broad.mit.edu	37	10	22618334	22618334	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:22618334C>A	ENST00000376663.3	+	10	1349	c.844C>A	c.(844-846)Cct>Act	p.P282T	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P425T	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AGTGCAGTCTCCTCATCCACA	0.507000													25	79					2.44723e-14	2.83456e-14	0.024334	1	0
FZD1	8321	broad.mit.edu	37	7	90895177	90895177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:90895177G>C	ENST00000287934.2	+	1	1395	c.982G>C	c.(982-984)Gtg>Ctg	p.V328L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	328					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CATTTGGTCAGTGCTGTGCTG	0.627000													15	87					0	0	0.020292	0	0
AKR1B1	231	broad.mit.edu	37	7	134135632	134135632	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:134135632T>C	ENST00000285930.4	-	3	336	c.257A>G	c.(256-258)aAg>aGg	p.K86R	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	86					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CACCAGGCCCTTCTCATGGTA	0.557000													5	26					0	0	0.014758	0	0
CCDC36	339834	broad.mit.edu	37	3	49293597	49293597	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:49293597A>G	ENST00000438782.1	+	8	903	c.667A>G	c.(667-669)Aac>Gac	p.N223D	CCDC36_ENST00000296449.5_Missense_Mutation_p.N223D|CCDC36_ENST00000452691.2_Missense_Mutation_p.N223D			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	223										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AATGAAGTCCAACCTGAAGCA	0.473000													34	58					0	0	0.021022	0	0
SPTB	6710	broad.mit.edu	37	14	65242099	65242099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr14:65242099C>A	ENST00000389722.3	-	22	4639	c.4586G>T	c.(4585-4587)gGc>gTc	p.G1529V	SPTB_ENST00000389720.3_Missense_Mutation_p.G1529V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1529V|SPTB_ENST00000389721.5_Missense_Mutation_p.G1529V|SPTB_ENST00000542895.1_Missense_Mutation_p.G1529V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1529					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGGCGTATGGCCCAGAATCTC	0.662000													15	13					1.15088e-07	1.26048e-07	0.028581	1	0
SEC24B	10427	broad.mit.edu	37	4	110384711	110384711	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:110384711C>T	ENST00000265175.5	+	2	843	c.788C>T	c.(787-789)tCa>tTa	p.S263L	SEC24B_ENST00000399100.2_Missense_Mutation_p.S263L|SEC24B_ENST00000504968.2_Missense_Mutation_p.S294L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	263					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTAACGTGGTCATCTCCAGGC	0.488000													20	40					0	0	0.043863	0	0
PRSS22	64063	broad.mit.edu	37	16	2905798	2905798	+	Silent	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:2905798C>T	ENST00000161006.3	-	4	401	c.336G>A	c.(334-336)ggG>ggA	p.G112G	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	112	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGCCAGGGTTCCCCAGCTGCC	0.617000													6	28					0	0	0.021553	0	0
MYCBP2	23077	broad.mit.edu	37	13	77751900	77751900	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr13:77751900C>T	ENST00000407578.2	-	35	5589	c.5323G>A	c.(5323-5325)Gag>Aag	p.E1775K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1737K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1737K|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCAACACCTCTAATTCATAT	0.398000													20	16					0	0	0.014323	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628812	34628812	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr15:34628812C>G	ENST00000354181.3	-	2	562	c.70G>C	c.(70-72)Gac>Cac	p.D24H	SLC12A6_ENST00000397707.2_Missense_Mutation_p.D24H|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D15H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D24H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	24					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTGGAATGTCATCGATCTTT	0.488000													14	21					0	0	0.028581	0	0
MROH8	140699	broad.mit.edu	37	20	35757571	35757571	+	Splice_Site	SNP	C	C	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr20:35757571C>G	ENST00000400441.3	-	14	1649		c.e14-1		MROH8_ENST00000441008.2_Splice_Site|MROH8_ENST00000217333.8_Splice_Site					maestro heat-like repeat family member 8																		AGCCAGGTGCCTGGAAATCCC	0.512000													10	14					0	0	0.008291	0	0
LMCD1	29995	broad.mit.edu	37	3	8579047	8579047	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:8579047A>G	ENST00000157600.3	+	3	540	c.308A>G	c.(307-309)aAc>aGc	p.N103S	LMCD1_ENST00000535732.1_Missense_Mutation_p.N103S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.N30S|LMCD1_ENST00000397386.3_Intron	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	103	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATCATGACCAACCCTATTGCT	0.552000													10	138					0	0	0.008291	0	0
ALK	238	broad.mit.edu	37	2	29456500	29456500	+	Silent	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:29456500A>T	ENST00000389048.3	-	14	3324	c.2418T>A	c.(2416-2418)cgT>cgA	p.R806R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	806					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R806R(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCTGTTCACACGGATTTCTT	0.488000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	70					0	0	0.021523	0	0
RFFL	117584	broad.mit.edu	37	17	33353416	33353416	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:33353416G>C	ENST00000315249.7	-	2	379	c.157C>G	c.(157-159)Cac>Gac	p.H53D	RFFL_ENST00000415395.2_Missense_Mutation_p.H53D|RFFL_ENST00000413582.2_Missense_Mutation_p.H53D|RFFL_ENST00000394597.2_Missense_Mutation_p.H53D|RFFL_ENST00000378516.2_Missense_Mutation_p.H53D|RFFL_ENST00000268850.7_Missense_Mutation_p.H53D|RFFL_ENST00000447669.2_Missense_Mutation_p.H53D|RFFL_ENST00000584655.1_Missense_Mutation_p.H53D|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	53					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTTGCAAAGTGAGCCCCACAG	0.597000													6	24					0	0	0.021553	0	0
ZNF768	79724	broad.mit.edu	37	16	30537124	30537124	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:30537124C>T	ENST00000380412.5	-	2	512	c.337G>A	c.(337-339)Gag>Aag	p.E113K	ZNF768_ENST00000562803.1_Missense_Mutation_p.E82K	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	113	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GATTCAAACTCAGGGCTCTGA	0.587000													14	60					0	0	0.016723	0	0
TRRAP	8295	broad.mit.edu	37	7	98535316	98535316	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr7:98535316A>T	ENST00000359863.4	+	30	4486	c.4277A>T	c.(4276-4278)cAt>cTt	p.H1426L	TRRAP_ENST00000355540.3_Missense_Mutation_p.H1426L|TRRAP_ENST00000446306.3_Missense_Mutation_p.H1425L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1426					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCACACACATATGCGACCT	0.413000													11	69					0	0	0.010729	0	0
CCL23	6368	broad.mit.edu	37	17	34340266	34340266	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:34340266C>T	ENST00000293280.2	-	4	455	c.385G>A	c.(385-387)Gac>Aac	p.D129N	CCL23_ENST00000591423.1_Missense_Mutation_p.D112N	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	112					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	ATCCGTGTGTCCAGCTTCAGC	0.498000													6	33					0	0	0.021553	0	0
RAD50	10111	broad.mit.edu	37	5	131915747	131915747	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr5:131915747G>T	ENST00000378823.3	+	5	1146	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	RAD50_ENST00000265335.6_Missense_Mutation_p.D249Y|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	249					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATGAACTTGATCCATTGAA	0.308000								Homologous recombination					8	45					5.18039e-06	5.56029e-06	0.038147	1	0
A4GNT	51146	broad.mit.edu	37	3	137843343	137843343	+	Silent	SNP	G	G	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr3:137843343G>T	ENST00000236709.3	-	3	987	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	262					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GATAGGAGATGGGGTAAAATC	0.483000													11	79					0.000151284	0.000160242	0.016723	1	0
TTN	7273	broad.mit.edu	37	2	179459274	179459275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr2:179459274_179459275insT	ENST00000589042.1	-	296	58170_58171	c.57946_57947insA	c.(57946-57948)tatfs	p.Y19316fs	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.Y10443fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.Y10251fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.Y10376fs|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.Y17675fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.Y16748fs|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17675							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTTAATAATTTCTGACCCA	0.391													41	58	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114275546	114275547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr4:114275546_114275547insC	ENST00000357077.4	+	38	5825_5826	c.5772_5773insC	c.(5770-5775)aaacccfs	p.KP1924fs	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.KP1891fs|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1891	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGACAGAAAAACACCCGCCAGT	0.515													7	49	---	---	---	---					
BCLAF1	9774	broad.mit.edu	37	6	136582553	136582553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr6:136582553delA	ENST00000531224.1	-	12	2859	c.2607delT	c.(2605-2607)ttfs	p.F869fs	BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.F87fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.F696fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.F867fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.F820fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.F818fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	869					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCCACGTTGAAAAGTACCAC	0.413													18	256	---	---	---	---					
BMS1	9790	broad.mit.edu	37	10	43312844	43312846	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr10:43312844_43312846delAAG	ENST00000374518.4	+	15	2545_2547	c.2482_2484delAAG	c.(2482-2484)del	p.K829del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	829					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCATTTGGATAAGAAGAGAAAAT	0.340													7	60	---	---	---	---					
TMEM134	80194	broad.mit.edu	37	11	67232544	67232544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr11:67232544delT	ENST00000308022.2	-	5	475	c.434delA	c.(433-435)ggfs	p.E145fs	TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_Intron	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	145						integral to membrane				endometrium(1)|lung(1)	2						GGGGGTCGCCTCCAGTCCCAC	0.731													2	4	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58203422	58203423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr12:58203422_58203423insC	ENST00000537081.1	-	8	874_875	c.875_876insG	c.(874-876)ggcfs	p.G292fs	AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G299fs			O75366	AVIL_HUMAN	advillin	299	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCTTTGTGGCTCCTTTTCCTTT	0.460													9	80	---	---	---	---					
ZNF821	55565	broad.mit.edu	37	16	71894083	71894088	+	In_Frame_Del	DEL	CATTTT	CATTTT	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr16:71894083_71894088delCATTTT	ENST00000425432.1	-	8	1451_1456	c.1072_1077delAAAATG	c.(1072-1077)del	p.KM358del	ZNF821_ENST00000313565.6_In_Frame_Del_p.KM316del|ZNF821_ENST00000565601.1_In_Frame_Del_p.KM358del|RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_In_Frame_Del_p.KM316del|ZNF821_ENST00000564134.1_3'UTR	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ACATCATGTCCATTTTCTCCAGCCTC	0.587													8	55	---	---	---	---					
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Translation_Start_Site	INS	-	-	TC	rs147679570		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								sugar binding	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584													4	4	---	---	---	---					
RAB40B	10966	broad.mit.edu	37	17	80615774	80615775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr17:80615774_80615775insG	ENST00000571995.1	-	6	932_933	c.801_802insC	c.(799-804)ccaaaafs	p.PK267fs	RAB40B_ENST00000269347.6_Frame_Shift_Ins_p.PK88fs	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	267					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GTGCAGTTTTTGGGGGGGCTCT	0.584													7	163	---	---	---	---					
NFKBIB	4793	broad.mit.edu	37	19	39399378	39399380	+	In_Frame_Del	DEL	ACG	ACG	-	rs141886159		TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chr19:39399378_39399380delACG	ENST00000313582.5	+	6	1011_1013	c.977_979delACG	c.(976-981)tac>t	p.YD326del	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	326					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CAGGATGAATACGACGACATTGT	0.596													19	65	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154577979	154577983	+	RNA	DEL	AGGGG	AGGGG	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrX:154577979_154577983delAGGGG	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA																							TATTGAACATAGGGGAAGCCTTATA	0.380													3	6	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-CN-6023-01A-11D-1683-08	TCGA-CN-6023-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d03b8f96-c932-4abf-b508-f4e1b50739ee	d5b021c2-0f46-4f80-b693-57047c559add	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													4	9	---	---	---	---					
