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
PAX3	5077	broad.mit.edu	37	2	223065931	223065931	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:223065931C>T	ENST00000392069.2	-	10	1845	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	PAX3_ENST00000350526.4_3'UTR|PAX3_ENST00000392070.2_3'UTR|PAX3_ENST00000344493.4_3'UTR|PAX3_ENST00000336840.6_3'UTR	NM_001127366.2|NM_181458.3|NM_181459.3	NP_001120838.1|NP_852123.1|NP_852124.1	P23760	PAX3_HUMAN	paired box 3	0					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTTTTGTCGAACGTGTTC	0.418000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	68					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:107340565C>A	ENST00000265715.3	+	15	1876	c.1652C>A	c.(1651-1653)tCc>tAc	p.S551Y	SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120Y|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138Y|SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112Y	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308000									Pendred syndrome				5	60					0.000602214	0.000633363	1	1	0
C10orf90	118611	broad.mit.edu	37	10	128118366	128118366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:128118366G>A	ENST00000284694.7	-	7	2071	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	C10orf90_ENST00000480379.1_Nonsense_Mutation_p.R55*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.R748*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.R604*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.R554*	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	651								p.R651*(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTTAGATCGCATATGCATC	0.438000													5	81					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21139017	21139017	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:21139017A>C	ENST00000261383.3	-	8	1198	c.1199T>G	c.(1198-1200)cTt>cGt	p.L400R	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.L400R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTTGAGAAGAGTCTGGTG	0.493000													4	97					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028690	76028690	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:76028690C>T	ENST00000319211.4	+	2	905	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	214					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTCTCCTGGCGTACTCTGGG	0.537000													6	139					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455416	187455416	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:187455416C>T	ENST00000307161.5	-	2	681	c.480G>A	c.(478-480)ctG>ctA	p.L160L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	160					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGAGGTTGGGCAGGACGGCCG	0.597000													16	66					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17266574	17266574	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:17266574C>A	ENST00000375541.5	+	13	1863	c.1794C>A	c.(1792-1794)aaC>aaA	p.N598K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	598					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCGCCAACGAGCTCCTGA	0.647000													3	10					0.115264	0.115264	1	1	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211512	78211512	+	RNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557000													5	115					1.23904e-05	1.39966e-05	1	1	0
KIAA0922	23240	broad.mit.edu	37	4	154510059	154510059	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:154510059G>A	ENST00000409959.3	+	16	1619	c.1570G>A	c.(1570-1572)Ggg>Agg	p.G524R	KIAA0922_ENST00000440693.1_Missense_Mutation_p.G524R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.G523R	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	523						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TAATTGGAATGGGAGCCTTTC	0.313000													5	82					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380700	28380700	+	Silent	SNP	A	A	G	rs34709422		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:28380700A>G	ENST00000394835.3	+	10	1920	c.1728A>G	c.(1726-1728)caA>caG	p.Q576Q	EFCAB5_ENST00000378738.3_Silent_p.Q576Q|EFCAB5_ENST00000320856.5_Silent_p.Q576Q|EFCAB5_ENST00000541045.1_Silent_p.Q233Q|EFCAB5_ENST00000394832.2_Silent_p.Q576Q|EFCAB5_ENST00000536908.2_Silent_p.Q520Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	576							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTACAGAACAAGGACAGCACA	0.453000													5	101					0	0	1	0	0
IGKV2D-29	0	broad.mit.edu	37	2	89987009	89987009	+	RNA	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:89987009C>A	ENST00000491977.1	+	0	320																											ACAGATTTCACACTGAAAATC	0.517000													4	104					0.00909568	0.00940401	1	1	0
CEBPE	1053	broad.mit.edu	37	14	23586839	23586839	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:23586839T>C	ENST00000206513.5	-	2	1227	c.703A>G	c.(703-705)Aag>Gag	p.K235E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCCAGCACCTTCTGCTGCGTC	0.622000													7	53					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666119	172666119	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:172666119G>A	ENST00000422440.2	-	13	1339	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	SLC25A12_ENST00000392592.4_Silent_p.G327G	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	434					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TACTTACACAGCCTCCAGCAA	0.388000													6	126					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085458	64085458	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:64085458C>T	ENST00000295902.6	-	8	2389	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A658T|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	602						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACTGACTCTGCGCTCCGGAAC	0.552000													8	106					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544687	73544687	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:73544687G>A	ENST00000224721.6	+	42	5562	c.5557G>A	c.(5557-5559)Gac>Aac	p.D1853N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1848	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACGACAACGACCCTGTGCT	0.592000													15	44					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43182853	43182853	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:43182853G>C	ENST00000252050.4	+	30	5809	c.5725G>C	c.(5725-5727)Gga>Cga	p.G1909R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.G1881R|CUL9_ENST00000354495.3_Missense_Mutation_p.G1799R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1909					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AAATCCTCCTGGAACCCTGGG	0.567000													31	57					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187215	50187215	+	Splice_Site	SNP	G	G	A	rs80286572		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:50187215G>A	ENST00000335999.6	-	10	3461	c.3258_splice	c.e10-1	p.P1087_splice		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1083	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTCGCTGCTCGGCTGTGTGGG	0.622000													3	54					0	0	1	0	0
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582000													4	99					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44119747	44119747	+	Splice_Site	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:44119747T>C	ENST00000259746.9	+	19	2019		c.e19+2		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GTGAAGCGGGTACGGCCGCCT	0.697000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43293008	43293008	+	Silent	SNP	A	A	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:43293008A>T	ENST00000325110.6	-	9	1457	c.1251T>A	c.(1249-1251)ggT>ggA	p.G417G	HMGCS1_ENST00000433297.2_Silent_p.G417G	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	417					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTGGTGCCACACCAGTTCTTG	0.353000													13	142					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496834	124496834	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:124496834T>G	ENST00000539644.1	+	6	1973	c.143T>G	c.(142-144)aTt>aGt	p.I48S	ZNF664_ENST00000392404.3_Missense_Mutation_p.I48S|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.I48S|ZNF664_ENST00000337815.4_Missense_Mutation_p.I48S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAACTTCATATTCATTGGAGA	0.353000													13	86					0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117486955	117486955	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr12:117486955C>T	ENST00000335209.7	-	4	404	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TESC_ENST00000392545.4_Missense_Mutation_p.R126H|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.R46H			Q96BS2	TESC_HUMAN	tescalcin	73					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGGTCCCTTGCGCAGGTTCCT	0.537000													4	50					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2415103	2415103	+	Missense_Mutation	SNP	G	G	A	rs139537965		TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr7:2415103G>A	ENST00000360876.4	+	14	2025	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V657I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	657					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGCTTCCGACGTCGAATGGGA	0.552000													11	118					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70515888	70515888	+	Missense_Mutation	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr8:70515888G>C	ENST00000260128.4	+	12	1961	c.1244G>C	c.(1243-1245)aGa>aCa	p.R415T	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.R415T|SULF1_ENST00000458141.2_Missense_Mutation_p.R415T|SULF1_ENST00000402687.4_Missense_Mutation_p.R415T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	415					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTAGTGGAAAGAGGGTAATTA	0.398000													3	46					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52478320	52478320	+	Missense_Mutation	SNP	G	G	A	rs117206856	by1000genomes	TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr14:52478320G>A	ENST00000216286.5	-	17	3501	c.3502C>T	c.(3502-3504)Cgt>Tgt	p.R1168C	NID2_ENST00000541773.1_Missense_Mutation_p.R1067C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1168						basement membrane	calcium ion binding|collagen binding			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)					AGACCAGCACGGCTGATTGTC	0.493000													33	120					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024911	138024911	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:138024911T>G	ENST00000383180.2	-	9	625	c.388A>C	c.(388-390)Aca>Cca	p.T130P	NME9_ENST00000341790.5_Missense_Mutation_p.T128P|NME9_ENST00000317876.4_Missense_Mutation_p.T130P|NME9_ENST00000536478.1_Missense_Mutation_p.T130P|NME9_ENST00000484930.1_Missense_Mutation_p.T128P|NME9_ENST00000333911.3_Missense_Mutation_p.T191P	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	191					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTTCATTTGTTAGAATTTCA	0.363000													4	69					0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021151	46021151	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr21:46021151G>A	ENST00000380102.2	+	1	655	c.630G>A	c.(628-630)acG>acA	p.T210T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTCCTGCACGCCCTCGTGCT	0.667000													4	100					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:107459775C>T	ENST00000409382.3	-	2	1269	c.659G>A	c.(658-660)cGc>cAc	p.R220H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R220H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R220H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	220					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTCTGCAGGCGCGGGTTCAG	0.647000													6	12					0	0	1	0	0
SMCR7L	0	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	G	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr22:39908032G>C	ENST00000325301.2	+	4	746		c.e4+1		SMCR7L_ENST00000404569.1_Splice_Site|SMCR7L_ENST00000402881.1_Splice_Site	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN								integral to membrane|mitochondrion		p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					TTCGACACAGGTGAGAAGGGC	0.597000													5	46					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53892809	53892809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:53892809T>G	ENST00000288167.3	+	9	820	c.811T>G	c.(811-813)Tgc>Ggc	p.C271G		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	271					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGTTGTGCTCTGCCCACAAAC	0.493000													4	55					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56699054	56699054	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56699054G>A	ENST00000389934.3	-	5	628	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TEX14_ENST00000240361.8_Missense_Mutation_p.R171W|TEX14_ENST00000349033.5_Missense_Mutation_p.R171W	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	171						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGACAAGCCGCTGCGGGGAG	0.587000													4	47					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180342	32180342	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr6:32180342C>A	ENST00000375023.3	-	17	2727	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	863	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGGAGGGCCCAGTCTGGA	0.607000													7	67					2.7689e-08	3.24813e-08	1	1	0
UBE4A	9354	broad.mit.edu	37	11	118255419	118255419	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:118255419G>T	ENST00000252108.3	+	14	2398	c.2267G>T	c.(2266-2268)tGg>tTg	p.W756L	UBE4A_ENST00000431736.2_Missense_Mutation_p.W763L|UBE4A_ENST00000545354.1_Missense_Mutation_p.W228L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	756					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGATACATGTGGGGGACAGAT	0.408000													23	28					4.4004e-07	5.06461e-07	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	6					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123597404	123597404	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:123597404C>A	ENST00000336139.4	-	8	1610	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	ZNF202_ENST00000529691.1_Silent_p.L416L|ZNF202_ENST00000530393.1_Silent_p.L416L			O95125	ZN202_HUMAN	zinc finger protein 202	416					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGTGAGTCCTCAGGTGTCTAA	0.473000													12	104					0.00010058	0.00010956	1	1	0
MFSD6	54842	broad.mit.edu	37	2	191362263	191362263	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr2:191362263C>T	ENST00000392328.1	+	7	2314	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C	MFSD6_ENST00000535751.1_Missense_Mutation_p.R126C|MFSD6_ENST00000281416.7_Missense_Mutation_p.R664C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	664					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TGTCATGCCACGCATTGAGCC	0.502000													8	117					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037252	47037252	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:47037252C>T	ENST00000450053.3	+	14	2126	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	NBEAL2_ENST00000292309.5_Silent_p.A649A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	649							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)		TCACGGCGGCCGGGACCCTGG	0.597000													4	48					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799890	130799890	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:130799890T>C	ENST00000509018.1	-	18	2529	c.2324A>G	c.(2323-2325)gAa>gGa	p.E775G	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E825G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAACTACTTCTTTAGCTGT	0.373000													15	43					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112324432	112324432	+	Silent	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr3:112324432C>T	ENST00000206423.3	-	8	3638	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	CCDC80_ENST00000439685.2_Silent_p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	895										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAAGTTGCATCGAATCAATTA	0.468000													12	63					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043659	56043659	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr11:56043659G>A	ENST00000313033.2	+	1	631	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCCTTCTGTGGATCCAATGAA	0.413000													38	220					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54076405	54076405	+	Silent	SNP	C	C	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr10:54076405C>A	ENST00000373970.3	+	4	778	c.639C>A	c.(637-639)gtC>gtA	p.V213V		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	213	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTAAACCTGTCCTGAAAGAAG	0.473000													4	89					0.00024832	0.000265746	1	1	0
CYGB	114757	broad.mit.edu	37	17	74527562	74527562	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:74527562C>T	ENST00000293230.5	-	2	717	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Missense_Mutation_p.V119M|CYGB_ENST00000589145.1_Missense_Mutation_p.V54M|CYGB_ENST00000590175.1_Missense_Mutation_p.V54M	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	119	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACCGGTTCCACCTTGTGCTTG	0.642000													16	38					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56635171	56635171	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:56635171G>A	ENST00000389934.3	-	32	4545	c.4428C>T	c.(4426-4428)tcC>tcT	p.S1476S	TEX14_ENST00000584699.1_Intron|TEX14_ENST00000240361.8_Silent_p.S1482S|TEX14_ENST00000349033.5_Silent_p.S1436S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1482						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGATGATTCGGACCAACCTA	0.338000													4	125					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127653927	127653927	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:127653927T>C	ENST00000508053.1	-	42	5605	c.4631A>G	c.(4630-4632)aAt>aGt	p.N1544S	FBN2_ENST00000262464.4_Missense_Mutation_p.N1544S			P35556	FBN2_HUMAN	fibrillin 2	1544	EGF-like 26; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATAGGCCATTGACACAGTT	0.433000													11	189					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570707	1570707	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr16:1570707C>G	ENST00000426508.2	-	27	3919	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E380Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1186										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGCCGCGACTCCTCAGGCAGG	0.627000													7	12					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	129					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706712	49706712	+	Splice_Site	SNP	T	T	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:49706712T>A	ENST00000303221.5	-	4	686	c.472_splice	c.e4+1	p.K157_splice	EMB_ENST00000514111.1_Splice_Site_p.K107_splice|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000508934.1_Splice_Site_p.K103_splice	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	157	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATACTGACCTTTGAAATTAA	0.274000													3	27					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303962	11303962	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr19:11303962C>T	ENST00000432929.2	-	4	1154	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	KANK2_ENST00000589894.1_Missense_Mutation_p.R265Q|KANK2_ENST00000586659.1_Missense_Mutation_p.R265Q|KANK2_ENST00000355150.5_Missense_Mutation_p.R265Q|KANK2_ENST00000589359.1_Missense_Mutation_p.R265Q	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	265										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCCACACTCCGGGTCTCCAG	0.682000													5	30					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962660	167962660	+	Silent	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:167962660G>A	ENST00000367840.3	+	7	979	c.885G>A	c.(883-885)gcG>gcA	p.A295A	DCAF6_ENST00000432587.2_Silent_p.A264A|DCAF6_ENST00000367843.3_Silent_p.A295A|DCAF6_ENST00000312263.6_Silent_p.A295A	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	295					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTCCTTCTGCGGAAGAGAGAA	0.483000													3	81					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54398817	54398817	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:54398817G>A	ENST00000254442.3	+	14	2189	c.1978G>A	c.(1978-1980)Gca>Aca	p.A660T	WDR7_ENST00000357574.3_Missense_Mutation_p.A660T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	660										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCTTCTGAGGCATCTGACAA	0.393000													4	67					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													7	51	---	---	---	---					
RPL5	6125	broad.mit.edu	37	1	93301888	93301890	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:93301888_93301890delGGC	ENST00000370321.3	+	5	556_558	c.466_468delGGC	c.(466-468)del	p.G156del		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	156					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AACTACCACTGGCAATAAAGTTT	0.493													14	114	---	---	---	---					
ZNF672	79894	broad.mit.edu	37	1	249142229	249142229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr1:249142229delG	ENST00000306562.3	+	4	1502	c.756delG	c.(754-756)gafs	p.E252fs		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACACGGGCGAGAAGCCGTACG	0.677													2	4	---	---	---	---					
HMGB2	3148	broad.mit.edu	37	4	174253268	174253273	+	In_Frame_Del	DEL	TCTTCT	TCTTCT	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr4:174253268_174253273delTCTTCT	ENST00000296503.5	-	5	1461_1466	c.588_593delAGAAGA	c.(586-594)gat>ga	p.EED196del	HMGB2_ENST00000446922.2_In_Frame_Del_p.EED196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EED196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ctcatcttcatcttcttcttcctcct	0.466													22	81	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98234109	98234112	+	Frame_Shift_Del	DEL	AACC	AACC	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr5:98234109_98234112delAACC	ENST00000284049.3	-	9	1362_1365	c.1213_1216delGGTT	c.(1213-1218)atfs	p.GY405fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	405	Chromo 2.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.G405V(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATCAGGATAACCAGCTGCTGAC	0.363													7	25	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.441_splice	c.e4+1	p.L149_splice	DDX5_ENST00000578804.1_Splice_Site_p.L149_splice|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	149	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								32	98	---	---	---	---					
ONECUT2	9480	broad.mit.edu	37	18	55103243	55103245	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-XJ-A83H-01A-11D-A34U-08	TCGA-XJ-A83H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c27050c-aef0-4f06-b6c3-fedca13d658a	eda129be-4306-443e-a904-e4d5d91c9eb7	g.chr18:55103243_55103245delGCG	ENST00000491143.2	+	1	327_329	c.295_297delGCG	c.(295-297)del	p.A101del		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	101	Poly-Ala.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		agcggcggcagcggcggcgTCGC	0.773													2	4	---	---	---	---