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
GPR50	9248	broad.mit.edu	37	X	150349210	150349210	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:150349210C>A	ENST00000218316.3	+	2	1224	c.1155C>A	c.(1153-1155)caC>caA	p.H385Q		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	385	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCCACCCTAAGCCCC	0.582000													124	157					1.75558e-51	2.20702e-51	0.003610	1	0
KRT86	3892	broad.mit.edu	37	12	52698737	52698737	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:52698737C>T	ENST00000293525.5	+	4	713	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KRT86_ENST00000423955.2_Missense_Mutation_p.R221C|KRT86_ENST00000544024.1_Missense_Mutation_p.R221C	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	221	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTACCTCCGCAAATCAGA	0.597000													175	213					0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712478	187712478	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:187712478C>T	ENST00000295131.2	-	2	249	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353000													6	205					0	0	0.003080	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:47041457C>T	ENST00000450053.3	+	27	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637000													3	30					0	0	0.004672	0	0
PI4K2B	55300	broad.mit.edu	37	4	25258211	25258211	+	Missense_Mutation	SNP	G	G	A	rs115874249	by1000genomes	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:25258211G>A	ENST00000264864.6	+	4	860	c.671G>A	c.(670-672)cGt>cAt	p.R224H	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R128H	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	224	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GCGATTGACCGTGCAAAATCA	0.358000													6	210					0	0	0.001168	0	0
NLRX1	79671	broad.mit.edu	37	11	119045448	119045448	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:119045448C>T	ENST00000409109.1	+	6	1723	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	NLRX1_ENST00000525863.1_Missense_Mutation_p.A379V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A379V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A379V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A379V			Q86UT6	NLRX1_HUMAN	NLR family member X1	379	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCGTTTGTGCCACCTTGCAC	0.617000													4	146					0	0	0.000248	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048832	42048832	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:42048832G>A	ENST00000372584.1	-	3	2651	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A546V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A546V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A546V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	546	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTGCAGGCGGCAGAAGGCAT	0.602000													3	33					0	0	0.004672	0	0
GPC3	2719	broad.mit.edu	37	X	132887716	132887716	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:132887716G>A	ENST00000370818.3	-	3	1270	c.825C>T	c.(823-825)ggC>ggT	p.G275G	GPC3_ENST00000543339.1_Silent_p.G221G|GPC3_ENST00000394299.2_Silent_p.G275G	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	275						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTAACCGCCACAGGGTT	0.483000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				156	128					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136683	40136683	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:40136683A>G	ENST00000278198.2	-	2	3123	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I387T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	387	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGGAGTAATCCAAGATAC	0.493000													179	161					0	0	0.003610	0	0
ATRX	546	broad.mit.edu	37	X	76949414	76949414	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:76949414A>G	ENST00000373344.5	-	6	597	c.383T>C	c.(382-384)gTa>gCa	p.V128A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Intron|ATRX_ENST00000373341.1_Missense_Mutation_p.V89A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	128					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTGGCTGTACAATCACTGT	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						83	203					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	47					0	0	0.004672	0	0
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632000			"""Mis, F, S"""		oligodendroglioma								45	12					0	0	0.003214	0	0
TEX9	374618	broad.mit.edu	37	15	56686922	56686922	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:56686922C>G	ENST00000558083.2	+	8	823	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	TEX9_ENST00000561221.2_Missense_Mutation_p.Q240E|TEX9_ENST00000537232.1_Missense_Mutation_p.Q165E|TEX9_ENST00000352903.2_Missense_Mutation_p.Q240E|TEX9_ENST00000560582.1_5'UTR|RP11-48G14.2_ENST00000564401.1_lincRNA			Q8N6V9	TEX9_HUMAN	testis expressed 9	240										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TATGAGACAGCAGCGAACAAT	0.284000													12	71					0	0	0.000978	0	0
ABCC10	89845	broad.mit.edu	37	6	43413455	43413455	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43413455C>T	ENST00000244533.3	+	13	3424	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1050V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1050	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCCAACGCGGCAGGCCTG	0.642000													4	94					0	0	0.001168	0	0
TEAD3	7005	broad.mit.edu	37	6	35446212	35446212	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:35446212C>T	ENST00000338863.7	-	6	706	c.480_splice	c.e6+1	p.R160_splice	TEAD3_ENST00000402886.3_Splice_Site_p.R100_splice	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	160	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCCATGTACCCGCGAGGAAGT	0.617000													3	44					0	0	0.000602	0	0
ADAM20	8748	broad.mit.edu	37	14	70989595	70989595	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:70989595C>T	ENST00000256389.3	-	2	2274	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	627					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGAACCATACTGGCACACTT	0.463000													249	371					0	0	0.003610	0	0
AZU1	566	broad.mit.edu	37	19	831737	831737	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:831737G>A	ENST00000233997.2	+	5	637	c.616G>A	c.(616-618)Gtc>Atc	p.V206I		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	206	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCCCCTCGTCTGCGAGGG	0.706000													21	25					0	0	0.001523	0	0
DLG3	1741	broad.mit.edu	37	X	69670626	69670626	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:69670626C>T	ENST00000194900.4	+	7	1373	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	DLG3_ENST00000374360.3_Silent_p.Y326Y			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.Y326Y(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532000													17	104					0	0	0.001882	0	0
SMC1B	27127	broad.mit.edu	37	22	45768073	45768073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr22:45768073C>A	ENST00000357450.4	-	13	2157	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.E720*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	720					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATCATCTCTAGTTCATTT	0.348000													5	173					0.00116845	0.0014281	0.001168	1	0
KRT14	3861	broad.mit.edu	37	17	39739491	39739491	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:39739491C>T	ENST00000167586.6	-	6	1356	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	424	Tail.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ACTCACTGGGCGTCCTCGCCC	0.607000													4	95					0	0	0.000248	0	0
HEATR6	63897	broad.mit.edu	37	17	58133572	58133572	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:58133572G>A	ENST00000184956.6	-	13	2122	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	702							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTGAAAAGTAGCCCCTTG	0.453000													10	157					0	0	0.006214	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								70	79					0	0	0.003610	0	0
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		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)		GATTTGGGCCCGGGATGCCTG	0.498000													51	66					0	0	0.003610	0	0
ARHGAP4	393	broad.mit.edu	37	X	153175536	153175536	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153175536G>A	ENST00000370028.3	-	19	2337	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	ARHGAP4_ENST00000537206.1_Silent_p.D697D|ARHGAP4_ENST00000393721.1_Silent_p.D542D|ARHGAP4_ENST00000370016.1_Silent_p.D699D|ARHGAP4_ENST00000350060.5_Silent_p.D720D|ARHGAP4_ENST00000467421.1_5'UTR	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	720	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGGGCGTCCCTGAGGT	0.682000													7	94					0	0	0.001984	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802897	109802897	+	Silent	SNP	A	A	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:109802897A>T	ENST00000230122.3	-	2	500	c.333T>A	c.(331-333)gcT>gcA	p.A111A		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACTGAGCAGTAGCCAGGATTT	0.438000													5	290					0	0	0.000602	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	222					0	0	0.000602	0	0
DYX1C1	161582	broad.mit.edu	37	15	55731774	55731774	+	Silent	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:55731774T>C	ENST00000321149.3	-	7	1156	c.789A>G	c.(787-789)ctA>ctG	p.L263L	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Silent_p.L263L|DYX1C1_ENST00000448430.2_Silent_p.L263L|DYX1C1_ENST00000380679.1_Silent_p.L263L|DYX1C1_ENST00000348518.3_Silent_p.L263L	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	263					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTGTTTGTGTAGCCACTAGA	0.343000													11	71					0	0	0.006122	0	0
CNOT1	23019	broad.mit.edu	37	16	58622799	58622799	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000441024.2_Silent_p.R38R|CNOT1_ENST00000569240.1_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373000													3	46					0	0	0.004672	0	0
GDI1	2664	broad.mit.edu	37	X	153668416	153668416	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153668416C>T	ENST00000447750.2	+	5	852	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.R173R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGACGTCTACCGGAAGTTTGA	0.577000													296	489					0	0	0.003610	0	0
CTSG	1511	broad.mit.edu	37	14	25043477	25043477	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:25043477G>A	ENST00000216336.2	-	4	604	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	190	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGTTCCCGCCGGTCCCCCACA	0.617000													37	44					0	0	0.006230	0	0
C2orf57	165100	broad.mit.edu	37	2	232458005	232458005	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:232458005G>A	ENST00000313965.2	+	1	431	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	115										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTTCAAGACGCAAGGACAAG	0.517000													5	209					0	0	0.000602	0	0
MKRN2	23609	broad.mit.edu	37	3	12613687	12613687	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:12613687A>G	ENST00000170447.7	+	4	594	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	MKRN2_ENST00000448482.1_Missense_Mutation_p.S151G|MKRN2_ENST00000411987.1_Missense_Mutation_p.S110G	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	153						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCCATCAGGAGTGGCCTTGA	0.627000													54	50					0	0	0.003610	0	0
MRPL43	84545	broad.mit.edu	37	10	102741298	102741298	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:102741298T>A	ENST00000342071.1	-	6	729	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Silent_p.I177I|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron	NM_176794.1	NP_789764.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACTGAACTGATATCTGAAGAA	0.398000													46	200					0	0	0.002852	0	0
COL4A5	1287	broad.mit.edu	37	X	107930900	107930900	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:107930900A>G	ENST00000328300.6	+	49	4748	c.4504A>G	c.(4504-4506)Aaa>Gaa	p.K1502E	COL4A5_ENST00000361603.2_Missense_Mutation_p.K1496E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1496	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAAGGAAATAAAAGAGCCCA	0.433000									Alport syndrome with Diffuse Leiomyomatosis				20	419					0	0	0.002299	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:7830088G>A	ENST00000327325.5	+	3	266	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CLEC4M_ENST00000334806.5_Missense_Mutation_p.A22T|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A50T|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A42T|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A50T|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A50T|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A22T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	50					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.A50P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCCATGGCGCCCTGGTGCT	0.632000													86	108					0	0	0.003610	0	0
RIF1	55183	broad.mit.edu	37	2	152320343	152320343	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:152320343A>G	ENST00000243326.4	+	29	4792	c.4309A>G	c.(4309-4311)Agt>Ggt	p.S1437G	RIF1_ENST00000430328.2_Missense_Mutation_p.S1437G|RIF1_ENST00000428287.2_Missense_Mutation_p.S1437G|RIF1_ENST00000453091.2_Missense_Mutation_p.S1437G|RIF1_ENST00000444746.2_Missense_Mutation_p.S1437G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1437					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAAGGAAAATAGTCATCAAAA	0.383000													3	127					0	0	0.004672	0	0
OR5D18	219438	broad.mit.edu	37	11	55587721	55587721	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:55587721T>C	ENST00000333976.4	+	1	636	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTTGCCACCTTTAATGAAAT	0.443000													4	247					0	0	0.001168	0	0
KIF16B	55614	broad.mit.edu	37	20	16360615	16360615	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr20:16360615T>C	ENST00000354981.2	-	19	2189	c.2032A>G	c.(2032-2034)Aaa>Gaa	p.K678E	KIF16B_ENST00000408042.1_Missense_Mutation_p.K678E|KIF16B_ENST00000355755.3_Missense_Mutation_p.K678E|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	678	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCAAATTTTTCCTTCTCC	0.498000													40	250					0	0	0.005524	0	0
MTX3	345778	broad.mit.edu	37	5	79282781	79282781	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:79282781C>T	ENST00000512560.1	-	6	667	c.548G>A	c.(547-549)aGt>aAt	p.S183N	MTX3_ENST00000512528.1_Missense_Mutation_p.S244N|MTX3_ENST00000509852.1_Missense_Mutation_p.S244N	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	244					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ACCTCCAAGACTAAGCCTAAA	0.363000													7	147					0	0	0.004482	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418369	139418369	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:139418369C>T	ENST00000277541.6	-	3	278	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	68	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGTTCTTGCAGGGGGTGCT	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	14					0	0	0.004672	0	0
ESPL1	9700	broad.mit.edu	37	12	53680351	53680351	+	Silent	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:53680351A>G	ENST00000257934.4	+	18	3922	c.3831A>G	c.(3829-3831)ctA>ctG	p.L1277L	ESPL1_ENST00000552462.1_Silent_p.L1277L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1277					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCACAAAACTAGGTGGCCTCA	0.542000													120	121					0	0	0.003610	0	0
AMMECR1	9949	broad.mit.edu	37	X	109444269	109444269	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:109444269T>C	ENST00000262844.5	-	5	967	c.800A>G	c.(799-801)cAt>cGt	p.H267R	AMMECR1_ENST00000372059.2_Missense_Mutation_p.H230R|AMMECR1_ENST00000372057.1_Missense_Mutation_p.H144R	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	267	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCTGTATATGGTCCCATCC	0.373000													147	168					0	0	0.003610	0	0
ANKRD36BP1	0	broad.mit.edu	37	1	168216031	168216031	+	RNA	SNP	G	G	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:168216031G>C	ENST00000358576.4	-	0	550					NR_026844.1															lung(1)	1						GCAGTAAGCTGTCCACTATAA	0.378000													2	14					0	0	0.004672	0	0
ARNTL2	56938	broad.mit.edu	37	12	27542188	27542188	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:27542188C>T	ENST00000544915.1	+	7	851	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ARNTL2_ENST00000261178.5_Missense_Mutation_p.S197F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S245F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.S208F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S160F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S231F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S208F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	245	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACTTTCTTCTTTTGATATT	0.323000													55	104					0	0	0.003610	0	0
NID2	22795	broad.mit.edu	37	14	52477708	52477708	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:52477708G>A	ENST00000216286.5	-	18	3607	c.3608C>T	c.(3607-3609)aCg>aTg	p.T1203M	NID2_ENST00000541773.1_Missense_Mutation_p.T1102M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1203						basement membrane	calcium ion binding|collagen binding	p.T1203M(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACACTGTCCGTCCAGTACAT	0.517000													5	275					0	0	0.001984	0	0
CFL1	1072	broad.mit.edu	37	11	65623202	65623202	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:65623202C>T	ENST00000525451.2	-	4	1027		c.e4-1		CFL1_ENST00000524553.1_Splice_Site|CFL1_ENST00000527344.1_Splice_Site|CFL1_ENST00000308162.5_Splice_Site|CFL1_ENST00000531407.1_Splice_Site|CFL1_ENST00000531413.1_Splice_Site|CFL1_ENST00000534769.1_Splice_Site			P23528	COF1_HUMAN	cofilin 1 (non-muscle)						actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CTCGGGGGCCCTGGACAGAAA	0.542000													6	84					0	0	0.001168	0	0
SETD8	387893	broad.mit.edu	37	12	123875277	123875277	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:123875277A>G	ENST00000402868.3	+	3	659	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SETD8_ENST00000330479.4_Missense_Mutation_p.H78R|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCAGTTACACATCACGAAGTC	0.483000													7	180					0	0	0.001984	0	0
VPS52	6293	broad.mit.edu	37	6	33235064	33235064	+	Silent	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:33235064G>A	ENST00000445902.2	-	11	1244	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	VPS52_ENST00000436044.2_Silent_p.N217N|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	342					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAAAATGGTGTTCCTGCTGC	0.562000													63	98					0	0	0.003610	0	0
TMEM131	23505	broad.mit.edu	37	2	98426153	98426153	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:98426153G>A	ENST00000186436.5	-	19	2281	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	685						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTCTTACTGGAAAGGAAGGT	0.423000													3	39					0	0	0.004672	0	0
ZMYND11	10771	broad.mit.edu	37	10	285431	285431	+	Silent	SNP	A	A	G			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:285431A>G	ENST00000309776.4	+	7	1091	c.543A>G	c.(541-543)caA>caG	p.Q181Q	ZMYND11_ENST00000403354.1_Silent_p.Q167Q|ZMYND11_ENST00000381602.4_Silent_p.Q181Q|ZMYND11_ENST00000381584.1_Silent_p.Q204Q|ZMYND11_ENST00000509513.2_Silent_p.Q221Q|ZMYND11_ENST00000602682.1_Silent_p.Q136Q|ZMYND11_ENST00000558098.2_Silent_p.Q221Q|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000545619.1_Silent_p.Q127Q|ZMYND11_ENST00000402736.1_Silent_p.Q190Q|ZMYND11_ENST00000381591.1_Silent_p.Q221Q|ZMYND11_ENST00000397959.3_Silent_p.Q136Q|ZMYND11_ENST00000397962.3_Silent_p.Q221Q|ZMYND11_ENST00000381604.4_Silent_p.Q181Q|ZMYND11_ENST00000381607.4_Silent_p.Q127Q	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	181	Bromo.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGCCCAATTGCTTCTCC	0.348000													83	138					0	0	0.003610	0	0
MRPL2	51069	broad.mit.edu	37	6	43023893	43023893	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43023893C>T	ENST00000388752.3	-	4	870	c.446G>A	c.(445-447)cGc>cAc	p.R149H	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.R149H	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	149					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GATGATCCAGCGTTTCCGGCT	0.537000													50	75					0	0	0.003610	0	0
FBXL7	23194	broad.mit.edu	37	5	15937211	15937211	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:15937211C>T	ENST00000504595.1	+	4	1873	c.1392C>T	c.(1390-1392)tgC>tgT	p.C464C	FBXL7_ENST00000329673.7_Silent_p.C452C|FBXL7_ENST00000510662.1_Silent_p.C417C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAGGACTGCGAGGTCTCCG	0.607000													18	46					0	0	0.006122	0	0
ZNF506	440515	broad.mit.edu	37	19	19906098	19906098	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:19906098G>A	ENST00000443905.2	-	4	745	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	ZNF506_ENST00000450683.2_Missense_Mutation_p.R168C|ZNF506_ENST00000540806.2_Missense_Mutation_p.R200C|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CATTTATAGCGTTTCTCTCCA	0.338000													6	109					0	0	0.001168	0	0
PREB	10113	broad.mit.edu	37	2	27355105	27355105	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:27355105C>T	ENST00000260643.2	-	6	1172	c.919G>A	c.(919-921)Gat>Aat	p.D307N	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	307					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGACATCGAGGCAGGAG	0.617000													114	177					0	0	0.003610	0	0
ZNF425	155054	broad.mit.edu	37	7	148801188	148801188	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:148801188G>A	ENST00000378061.2	-	4	1907	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	592					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGACTGATGCGTGTAGGTCTT	0.577000													8	165					0	0	0.006214	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484191	26484191	+	Silent	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr8:26484191C>T	ENST00000311151.5	+	5	949	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DPYSL2_ENST00000521913.1_Silent_p.C143C|DPYSL2_ENST00000523027.1_Silent_p.C143C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAACGGATTGCCAGGTAAGAA	0.463000													6	236					0	0	0.006214	0	0
EXOC5	10640	broad.mit.edu	37	14	57684716	57684716	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:57684716C>T	ENST00000413566.2	-	15	1956	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	EXOC5_ENST00000340918.7_Missense_Mutation_p.D468N	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	533					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCCAGTATCCAATTTCATC	0.294000													43	56					0	0	0.002852	0	0
FUBP1	8880	broad.mit.edu	37	1	78429848	78429848	+	Splice_Site	SNP	C	C	T			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:78429848C>T	ENST00000370767.1	-	12	1028		c.e12-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCATCATCTTCAAAACAA	0.363000			"""F, N"""		oligodendroglioma								136	20					0	0	0.003610	0	0
TTC21A	199223	broad.mit.edu	37	3	39170636	39170636	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:39170636T>C	ENST00000301819.6	+	15	2171	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T	TTC21A_ENST00000431162.2_Missense_Mutation_p.I664T|TTC21A_ENST00000440121.1_Missense_Mutation_p.I616T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	664							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGCATCACCATTGCCAACGTG	0.522000													70	82					0	0	0.003610	0	0
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	238	---	---	---	---					
ALPK1	80216	broad.mit.edu	37	4	113356325	113356326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:113356325_113356326insA	ENST00000458497.1	+	12	3335_3336	c.3056_3057insA	c.(3055-3057)taafs	p.*1019fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.*941fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.*1019fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCTG	0.356													9	540	---	---	---	---					
BBS7	0	broad.mit.edu	37	4	122776708	122776708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:122776708delA	ENST00000264499.4	-	6	720	c.537delT	c.(535-537)gafs	p.D179fs	BBS7_ENST00000506636.1_Frame_Shift_Del_p.D179fs	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	179					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATACATCACATCAGATCCCT	0.348									Bardet-Biedl syndrome				15	297	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---