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
CNOT1	23019	broad.mit.edu	37	16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	30					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				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)		TGTATTTCCTGCTGGCTGGCT	0.448000													6	99					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:87968799G>T	ENST00000369577.3	+	8	5495	c.5452G>T	c.(5452-5454)Gtc>Ttc	p.V1818F	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTATAAGTGTCATGCCAAC	0.318000													5	13					0.000602214	0.000621959	1	1	0
KIF17	57576	broad.mit.edu	37	1	21009257	21009257	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.A784A			Q9P2E2	KIF17_HUMAN	kinesin family member 17	784					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTCTGCAGGGCAGCCACCA	0.607000													14	42					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448493	89448493	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448493G>A	ENST00000399794.2	-	3	1732	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.D339D|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	339	Ser-rich.						nucleotide binding|RNA binding										TGCCAACCCTGTCACAACTTG	0.507000													5	186					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	354					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTGCAGTACCCTCGAAGCTC	0.527000													145	208					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32611943	32611943	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr8:32611943G>T	ENST00000338921.4	+	9	1295	c.778G>T	c.(778-780)Gcc>Tcc	p.A260S	NRG1_ENST00000287840.5_Missense_Mutation_p.A252S|NRG1_ENST00000287845.5_Missense_Mutation_p.A223S|NRG1_ENST00000521670.1_Missense_Mutation_p.A252S|NRG1_ENST00000539990.1_Missense_Mutation_p.A95S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A249S|NRG1_ENST00000519301.1_Missense_Mutation_p.A202S|NRG1_ENST00000523079.1_Missense_Mutation_p.A249S|NRG1_ENST00000356819.4_Missense_Mutation_p.A257S|NRG1_ENST00000405005.2_Missense_Mutation_p.A252S			Q02297	NRG1_HUMAN	neuregulin 1	252					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATCTGCATCGCCCTCCTTGT	0.522000													14	13					0.0167234	0.0169931	1	1	0
RAB39A	54734	broad.mit.edu	37	11	107832736	107832736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:107832736C>T	ENST00000320578.2	+	2	358	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										CATTACTAACCGACGATCTTT	0.348000													4	85					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000228226.8_Missense_Mutation_p.F86S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	49	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAGCACTTGTTTCGCTACCAG	0.483000													31	33					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72290360	72290360	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:72290360C>T	ENST00000334456.5	-	27	2569	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	PDE2A_ENST00000540345.1_Missense_Mutation_p.R766H|PDE2A_ENST00000418754.2_Missense_Mutation_p.R660H|PDE2A_ENST00000444035.2_Missense_Mutation_p.R766H|PDE2A_ENST00000544570.1_Missense_Mutation_p.R768H|PDE2A_ENST00000376450.3_Missense_Mutation_p.R519H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	775	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTTGAAGATGCGGAGATGGTG	0.602000													11	58					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87536921	87536921	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:87536921G>C	ENST00000265728.1	+	12	1972	c.1468G>C	c.(1468-1470)Gta>Cta	p.V490L		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	490					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACAGGCATCTGTACATGTTTC	0.368000													6	103					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:170959063T>C	ENST00000367759.4	+	11	1101	c.947T>C	c.(946-948)tTg>tCg	p.L316S	MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GATGTTATGTTGCAGGTTATC	0.438000													41	49					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	410					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTGTGTTGGGCCCATGCTCC	0.622000													36	51					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	56					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055681	76055681	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr13:76055681C>T	ENST00000377636.3	-	1	569	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	TBC1D4_ENST00000431480.2_Missense_Mutation_p.G75R|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G75R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	75	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		gccggcgccccgcagccgccc	0.751000													10	0					0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128944944	128944944	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:128944944C>T	ENST00000357166.6	-	10	1306	c.915G>A	c.(913-915)gaG>gaA	p.E305E	ZDHHC9_ENST00000371064.3_Silent_p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	305						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTCCACTTTCCTCCAGTGGCA	0.517000													10	4					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		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)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								5	110					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215978	20215978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:20215978G>A	ENST00000412997.1	-	6	1396	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Nonsense_Mutation_p.R349*|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Nonsense_Mutation_p.R349*|SGOL1_ENST00000442720.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	349					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTTTTGTCGGAAAGGAGTA	0.373000													4	134					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	346					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGACCTTAAAGTGAAGTAAAC	0.368000													10	57					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169541549	169541549	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:169541549C>G	ENST00000367796.3	-	3	484	c.283G>C	c.(283-285)Gga>Cga	p.G95R	F5_ENST00000367797.3_Missense_Mutation_p.G95R|F5_ENST00000546081.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	95	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGATGTCTCCGACTTCAGCA	0.363000													5	55					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					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						CAGGGTTTTGCGCCACGAGCA	0.582000													4	242					0	0	1	0	0
ART4	420	broad.mit.edu	37	12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	167					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCAGCTGGATTGCTGAGGTG	0.473000													29	56					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			69	93					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1937885	1937885	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:1937885C>T	ENST00000406869.1	-	18	2506	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R650Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R558Q|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R650Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	650					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CGAGGTCAGCCGGTACTGGTT	0.617000													15	33					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	31					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000397409.4_Intron|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	215					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTGGCATCCTGGCACTGC	0.552000													27	38					9.80776e-20	1.10337e-19	1	1	0
GHRHR	2692	broad.mit.edu	37	7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:31016135A>G	ENST00000409904.3	+	8	1132	c.874A>G	c.(874-876)Atc>Gtc	p.I292V	GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	356					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TGGCCTGGGCATCCGCCTCCC	0.572000													11	21					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554185	28554185	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:28554185G>A	ENST00000452236.2	-	1	927	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	104	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCTCAGGCAGGATGGTCAGG	0.537000													5	132					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555257	45555257	+	Splice_Site	SNP	A	A	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCTCTTTTTAGCCTATGCTG	0.473000													13	52					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448492	89448492	+	Silent	SNP	T	T	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:89448492T>G	ENST00000399794.2	-	3	1733	c.1018A>C	c.(1018-1020)Agg>Cgg	p.R340R	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Silent_p.R340R|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	340	Ser-rich.						nucleotide binding|RNA binding										CTGCCAACCCTGTCACAACTT	0.507000													5	188					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:38158019G>C	ENST00000308059.6	+	28	3953	c.3932G>C	c.(3931-3933)gGg>gCg	p.G1311A	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1311					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTTTTATGGGCCACCTTTC	0.612000													31	27					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:66204918C>T	ENST00000503581.1	-	4	923	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	129					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTAGTCTGCAGCCAAA	0.393000													12	16					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58958631	58958631	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:58958631C>T	ENST00000227451.3	+	5	1308	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	DTX4_ENST00000532982.1_Missense_Mutation_p.R296W|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	402					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACAGAAAGTCCGGCACCCACC	0.493000													5	2					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:24565546C>T	ENST00000376862.3	+	3	1168	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCCCCCGCGGGACCACCT	0.552000													22	109					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22168751	22168751	+	Silent	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:22168751G>T	ENST00000374695.3	-	68	9112	c.9033C>A	c.(9031-9033)ccC>ccA	p.P3011P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3011	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCCCTCACTGGGCGGGACGG	0.652000													4	54					0.00024832	0.000260736	1	1	0
ANKRD49	54851	broad.mit.edu	37	11	94231465	94231465	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:94231465C>A	ENST00000544612.1	+	3	984	c.487C>A	c.(487-489)Cat>Aat	p.H163N	ANKRD49_ENST00000302755.4_Missense_Mutation_p.H163N|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	163					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTACTGCAGCATGATGCAGA	0.512000													17	46					6.49762e-13	7.05776e-13	1	1	0
DDO	8528	broad.mit.edu	37	6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:110726001G>A	ENST00000368924.3	-	4	533	c.518C>T	c.(517-519)gCc>gTc	p.A173V	DDO_ENST00000368925.1_Missense_Mutation_p.A145V|DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	145					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGGAGGTAGGCAGGGCATTC	0.433000													20	3					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	173					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTTTGGAAGATTTCTCCCT	0.428000									Bardet-Biedl syndrome				39	69					1.96642e-18	2.17341e-18	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:111629104G>A	ENST00000428084.1	-	6	702	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572000													13	17					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:56031259G>A	ENST00000309675.2	+	1	616	c.584G>A	c.(583-585)aGg>aAg	p.R195K		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGAAGCACAGGAGCGAGATC	0.532000													28	60					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696757	176696757	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:176696757G>A	ENST00000439151.2	+	16	5503	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1820					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAGGGTGACGTGAGCAGCAA	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	45					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217006	111217006	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:111217006C>T	ENST00000369769.2	-	1	649	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	142						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTTGCGGAGCGGGTCGAAGT	0.652000													6	110					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074504	76074504	+	RNA	SNP	C	C	T	rs146281026	by1000genomes	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:76074504C>T	ENST00000395215.3	+	0	683																											TGAACGCACACGTGACACAGG	0.572000													3	35					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016391	23016391	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:23016391G>A	ENST00000255008.3	+	1	335	c.271G>A	c.(271-273)Gta>Ata	p.V91I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	91					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGCCGTAGCCGACGA	0.657000													5	167					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14940329	14940329	+	Silent	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14940329C>A	ENST00000261167.2	-	12	1829	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G	WBP11_ENST00000537574.1_Silent_p.G498G	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	532	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTAAAACCCCAGGGTTTG	0.592000													129	156					1.49705e-65	1.74655e-65	1	1	0
LILRB5	0	broad.mit.edu	37	19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr19:54760504G>A	ENST00000450632.1	-	3	280	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	68	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTTCCGGGCCCATGGGAG	0.607000													39	156					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37883719	37883719	+	Missense_Mutation	SNP	C	C	T	rs143958183		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:37883719C>T	ENST00000406381.2	+	28	3751	c.3241C>T	c.(3241-3243)Cgg>Tgg	p.R1081W	ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000445658.2_Missense_Mutation_p.R835W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1096W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1081W|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1111W	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1111					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCTCTACAGCGGTACAGTGA	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			30	40					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028251	37028251	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:37028251C>T	ENST00000358047.3	+	1	1820	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	590										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGGGTGTCCAG	0.657000													5	62					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:216166392C>T	ENST00000366943.2	-	35	7161	c.6775G>A	c.(6775-6777)Gtc>Atc	p.V2259I	USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2259	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.V2259I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGAGACATTAAAGGAG	0.463000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	107	181					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	428						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCCAGCTCGTCCATGGAAA	0.711000													5	10					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545841	82545841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:82545841G>A	ENST00000423517.2	-	7	11798	c.11461C>T	c.(11461-11463)Cga>Tga	p.R3821*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3821*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R541*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3752	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTAGGCTCGTTCTCTCTTT	0.448000													63	44					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910382	184910382	+	Missense_Mutation	SNP	G	G	A	rs148208284	byFrequency	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:184910382G>A	ENST00000231887.3	-	7	1879	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	EHHADH_ENST00000456310.1_Missense_Mutation_p.R506W	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	602						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTTCTATACCGTGATAGGAAT	0.428000													48	79					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170037774	170037774	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr4:170037774C>T	ENST00000284637.9	-	10	2126	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCTGGTTGTGCGCTGCAACTA	0.537000													3	54					0	0	1	0	0
PCDHGA8	0	broad.mit.edu	37	5	140772579	140772579	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr5:140772579G>T	ENST00000398604.2	+	1	199	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.V67I(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCGTATCGTCTCCAGAGG	0.622000													40	54					1.52319e-26	1.74474e-26	1	1	0
TRIM16L	147166	broad.mit.edu	37	17	18638255	18638255	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:18638255C>T	ENST00000449552.2	+	7	2013	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGAGGAGAACCGCAAGGTCAC	0.607000													6	35					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													8	146	---	---	---	---					
ANKRD36BP2	0	broad.mit.edu	37	2	89088051	89088051	+	RNA	DEL	T	T	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr2:89088051delT	ENST00000393525.3	+	0	1015																											GCATTGTAGATTTAACTCTGG	0.308													2	4	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													6	13	---	---	---	---					
GPSM3	63940	broad.mit.edu	37	6	32160026	32160026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:32160026delC	ENST00000487761.1	-	2	420	c.35delG	c.(34-36)gcfs	p.G12fs	GPSM3_ENST00000375040.3_Splice_Site_p.G15_splice|GPSM3_ENST00000375043.3_Splice_Site_p.G15_splice			Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	15					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CTGAGGGGGGCCCTGATGCCA	0.617													10	15	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs68029369	by1000genomes	TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000542585.1	+	0	7176_7210				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583													7	28	---	---	---	---					
RP11-783K16.14	0	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													6	9	---	---	---	---					
RP4-568F9.6	0	broad.mit.edu	37	20	18327494	18327494	+	RNA	DEL	A	A	-			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr20:18327494delA	ENST00000457009.1	-	0	136																											TTTACAAGATAAAATTTCTGA	0.333													6	5	---	---	---	---