Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR4C11	219429	broad.mit.edu	37	11	55371448	55371448	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:55371448C>A	uc010rii.2	-	0	427	c.402G>T	c.(400-402)atG>atT	p.M134I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCTGCTGGCTCATGATGGTTG	0.463000														92			5		3.59834e-05	3.85234e-05	0.021553	1	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767651	18767651	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:18767651G>C	uc010exr.3	-	2	239	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.Q103E|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.Q43E|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.Q103E|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.Q86E|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.Q120E|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.Q103E|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.Q43E|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	103					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GATGATTCTTGTGATCCCTGT	0.488000														71			10		0	0	0.058154	0	0
NIM1	167359	broad.mit.edu	37	5	43280172	43280172	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:43280172A>G	uc003jno.3	+	3	1533	c.652A>G	c.(652-654)Agc>Ggc	p.S218G		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	218	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TTTTGGATTCAGCACAGTAAG	0.433000														75			32		0	0	0.054565	0	0
BAP1	8314	broad.mit.edu	37	3	52443866	52443866	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr3:52443866C>T	uc003ddx.3	-	0	144	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	10					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S10T(2)|p.E7_S10delELES(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCTGGGTCGCTCTCCAGCTC	0.746000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								17			20		0	0	0.062417	0	0
KCTD9	54793	broad.mit.edu	37	8	25293942	25293942	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:25293942C>T	uc003xeo.3	-	6	781	c.559G>A	c.(559-561)Gca>Aca	p.A187T	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ACCTTTATTGCCACTTCTAGG	0.323000														65			3		0	0	0.009096	0	0
ADAM2	2515	broad.mit.edu	37	8	39604144	39604144	+	Missense_Mutation	SNP	C	T	T	rs111543786	byFrequency	TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:39604144C>T	uc003xnj.3	-	18	2096	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	ADAM2_uc003xnk.3_Missense_Mutation_p.R655H|ADAM2_uc011lck.2_Missense_Mutation_p.R611H|ADAM2_uc003xnl.3_Missense_Mutation_p.R518H	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	674					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCAATGTAGCGCCTTTCTAG	0.299000														90			20		0	0	0.049695	0	0
MUC16	94025	broad.mit.edu	37	19	9085838	9085838	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:9085838C>A	uc002mkp.3	-	0	6181	c.5977G>T	c.(5977-5979)Gaa>Taa	p.E1993*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1993	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAACTTTTTCTGAAGAAACT	0.473000														94			6		8.12818e-05	8.60075e-05	0.029380	1	0
SON	6651	broad.mit.edu	37	21	34918555	34918555	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:34918555T>G	uc002yse.1	+	1	163	c.114T>G	c.(112-114)aaT>aaG	p.N38K	SON_uc002ysb.1_Missense_Mutation_p.N38K|SON_uc002ysc.3_Missense_Mutation_p.N38K|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Missense_Mutation_p.N38K	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	38					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTGAAACAAATACACCCATTG	0.393000														38			20		0	0	0.055883	0	0
OR52B2	255725	broad.mit.edu	37	11	6190974	6190974	+	Missense_Mutation	SNP	T	A	A	rs35364339		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:6190974T>A	uc010qzy.2	-	0	583	c.583A>T	c.(583-585)Act>Tct	p.T195S		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTTAACAGTGATGTCAGCA	0.478000														22			8		0	0	0.038147	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673260	1673260	+	Silent	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:1673260C>A	uc002ftl.3	+	2	356	c.199C>A	c.(199-201)Cgg>Agg	p.R67R		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	67					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.R67Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGACCTGTACCGGGTGCGATC	0.632000														157			5		3.59834e-05	3.85234e-05	0.021553	1	0
RORB	6096	broad.mit.edu	37	9	77286722	77286722	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:77286722G>A	uc004aji.3	+	8	1211	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	RORB_uc004ajh.3_Missense_Mutation_p.E377K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	388	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.E377Q(2)|p.E377*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGGCTTATAGAACCAAGGAA	0.428000														53			27		0	0	0.037714	0	0
SON	6651	broad.mit.edu	37	21	34922861	34922861	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:34922861T>G	uc002yse.1	+	2	1373	c.1324T>G	c.(1324-1326)Tct>Gct	p.S442A	SON_uc002ysb.1_Missense_Mutation_p.S442A|SON_uc002ysc.3_Missense_Mutation_p.S442A|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S88A|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	442					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCCAGGGCCCTCTGTGACACC	0.632000														54			22		0	0	0.062417	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68777129	68777129	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:68777129C>T	uc003hdr.1	-	9	1318	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.K396K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	399	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CAGGCTTGTCCTTTTGACCAC	0.403000														148			7		0	0	0.038147	0	0
SHC2	25759	broad.mit.edu	37	19	422226	422226	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:422226T>C	uc002loq.4	-	10	1540	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	514	SH2.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGTTGGTGACGCTGTCT	0.677000														16			8		0	0	0.038147	0	0
LIMK2	3985	broad.mit.edu	37	22	31667152	31667152	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr22:31667152C>T	uc003akh.3	+	11	1493	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	LIMK2_uc003aki.3_Missense_Mutation_p.R204W|LIMK2_uc003akj.3_Missense_Mutation_p.R429W|LIMK2_uc003akk.3_Missense_Mutation_p.R429W|LIMK2_uc011aln.2_Missense_Mutation_p.R367W	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	450	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CATCATCCACCGGGATCTGAA	0.537000														137			4		0	0	0.014758	0	0
CNOT1	23019	broad.mit.edu	37	16	58580300	58580300	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:58580300T>G	uc002env.3	-	28	4224	c.3931A>C	c.(3931-3933)Aat>Cat	p.N1311H	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.N1306H|CNOT1_uc002enx.3_Missense_Mutation_p.N1311H|CNOT1_uc010vik.2_Missense_Mutation_p.N268H	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1311					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)		TCATCTAAATTCTTCAGGCGA	0.413000														99			37		0	0	0.069456	0	0
MRPL10	124995	broad.mit.edu	37	17	45901623	45901623	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:45901623G>A	uc002ily.3	-	5	862	c.764C>T	c.(763-765)tCt>tTt	p.S255F	OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc002ilz.3_Missense_Mutation_p.S245F|MRPL10_uc010wky.2_Missense_Mutation_p.S206F	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	245					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CGACATGACAGAATCCTTCTC	0.577000														78			72		0	0	0.048971	0	0
SRSF5	6430	broad.mit.edu	37	14	70238167	70238167	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:70238167A>G	uc001xll.3	+	8	2259	c.808A>G	c.(808-810)Agt>Ggt	p.S270G	SRSF5_uc001xlo.3_Missense_Mutation_p.S270G|SRSF5_uc001xlp.3_Missense_Mutation_p.S270G	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	270					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						ATCAGTTGACAGTGGCAATTA	0.428000														165			30		0	0	0.034045	0	0
C10orf90	118611	broad.mit.edu	37	10	128193076	128193076	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr10:128193076C>G	uc010qum.2	-	3	1014	c.984G>C	c.(982-984)gaG>gaC	p.E328D	C10orf90_uc001ljp.3_Missense_Mutation_p.E184D|C10orf90_uc001ljq.3_Missense_Mutation_p.E231D|C10orf90_uc009yao.2_Missense_Mutation_p.E328D|C10orf90_uc001ljs.1_Missense_Mutation_p.E184D	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	231										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)		AAAAACTGGTCTCTTTGTCGT	0.557000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			20		0	0	0.055883	0	0
LAMB1	3912	broad.mit.edu	37	7	107580801	107580801	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:107580801A>G	uc003vev.2	-	22	3627	c.3466T>C	c.(3466-3468)Tgt>Cgt	p.C1156R	LAMB1_uc003vew.2_Missense_Mutation_p.C1132R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1132	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACAGTCACAGGCTAGAAGG	0.502000														53			3		0	0	0.004672	0	0
NYAP1	222950	broad.mit.edu	37	7	100087003	100087003	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:100087003C>T	uc003uvd.1	+	3	1818	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	NYAP1_uc003uve.1_Silent_p.A335A	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	553																	CCTACCCAGCCACAGCAGCTG	0.682000														47			17		0	0	0.033300	0	0
CLK2P	1197	broad.mit.edu	37	7	23625147	23625147	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:23625147C>T	uc003swk.2	-	0	1000	c.350G>A	c.(349-351)cGc>cAc	p.R117H						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TCGGTAATGGCGAGTGGAGAC	0.527000														72			4		0	0	0.009096	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597517	6597517	+	Splice_Site	SNP	C	G	G	rs113208940		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:6597517C>G	uc002gdj.3	-	8	1144	c.1056_splice	c.e8-1	p.K352_splice	SLC13A5_uc010clq.3_Splice_Site_p.K309_splice|SLC13A5_uc002gdk.3_Splice_Site_p.K335_splice|SLC13A5_uc010vtf.2_Splice_Site_p.K352_splice	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	352						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAGACATACCTAGGTGGGGA	0.502000														42			15		0	0	0.024245	0	0
MADCAM1	8174	broad.mit.edu	37	19	501762	501762	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:501762A>C	uc002los.3	+	3	771	c.761A>C	c.(760-762)cAg>cCg	p.Q254P	MADCAM1_uc002lot.3_Intron|MADCAM1_uc010drq.3_Intron	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	254	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.			Q -> P (in Ref. 1; AAC13661).	cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		p.Q254P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCAGGAGCCTCCC	0.721000														9			4		0	0	0.014758	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	Missense_Mutation	SNP	C	G	G	rs56290535	by1000genomes	TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr15:78208916C>G	uc010bky.2	-	13	1581	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCCAGATGTTCTCCTCCATCT	0.627000														93			3		0	0	0.004672	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123313163	123313163	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:123313163C>A	uc004bkf.3	-	3	394	c.213G>T	c.(211-213)aaG>aaT	p.K71N	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.K71N|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.K71N	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	71					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGTTTTCTTTCTTCAATTCAG	0.383000														120			5		1.23904e-05	1.35847e-05	0.014758	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrGL000205.1:117582C>G	uc002kgk.4	+	0		c.960C>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														19			3		0	0	0.004672	0	0
TMEM81	388730	broad.mit.edu	37	1	205053045	205053045	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:205053045A>C	uc001hbt.3	-	0	544	c.404T>G	c.(403-405)tTc>tGc	p.F135C		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	135	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AAAGGGTTTGAAGACCTCATC	0.468000														88			29		0	0	0.034045	0	0
JAG1	182	broad.mit.edu	37	20	10625851	10625851	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr20:10625851C>T	uc002wnw.2	-	16	2683	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	JAG1_uc010gcd.1_Missense_Mutation_p.E281K	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	723	EGF-like 13.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity	p.E723fs*6(2)|p.D722D(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCATCCCCCTCATCATAGCAG	0.547000									Alagille Syndrome					76			35		0	0	0.080422	0	0
GGA3	23163	broad.mit.edu	37	17	73237524	73237524	+	Silent	SNP	G	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:73237524G>T	uc002jni.2	-	9	942	c.903C>A	c.(901-903)gtC>gtA	p.V301V	GGA3_uc002jnk.2_Silent_p.V229V|GGA3_uc002jnj.2_Silent_p.V268V|GGA3_uc010wry.2_Silent_p.V229V|GGA3_uc010wrw.2_Silent_p.V179V|GGA3_uc010wrx.2_Silent_p.V179V	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	301	Binds to ARF1 (in long isoform).|Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CGCCATTGATGACCTGCCCTT	0.547000														145			4		0.00909568	0.00930008	0.009096	1	0
FAM75A3	727830	broad.mit.edu	37	9	40705657	40705657	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:40705657C>T	uc010mmj.3	+	3	3343	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	1105						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCAATGTTTCCCCCTATTCAC	0.478000														124			149		0	0	0.048971	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182921876	182921876	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:182921876C>T	uc001gpu.3	-	0	678	c.393G>A	c.(391-393)ctG>ctA	p.L131L	SHCBP1L_uc001gpv.3_5'UTR|SHCBP1L_uc010pnz.2_5'UTR|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	203										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TACAGTCCTGCAGCACTTCGT	0.627000														22			7		0	0	0.029380	0	0
NUP160	23279	broad.mit.edu	37	11	47819410	47819410	+	Silent	SNP	A	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:47819410A>C	uc001ngm.3	-	26	3295	c.3210T>G	c.(3208-3210)gcT>gcG	p.A1070A	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.A1070A	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1070					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCACAGCTCTAGCACGTGACT	0.443000														93			30		0	0	0.034045	0	0
ZNF544	27300	broad.mit.edu	37	19	58774085	58774085	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:58774085G>A	uc010euo.3	+	6	2587	c.2113G>A	c.(2113-2115)Gtg>Atg	p.V705M	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.V677M|ZNF544_uc010yhy.2_Missense_Mutation_p.V677M|ZNF544_uc002qrt.4_Missense_Mutation_p.V563M|ZNF544_uc002qru.4_Missense_Mutation_p.V563M|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAACTTGTAGTGCATCGGCG	0.488000														192			71		0	0	0.048971	0	0
ZNF691	51058	broad.mit.edu	37	1	43317094	43317094	+	Silent	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:43317094C>A	uc021omh.1	+	3	860	c.558C>A	c.(556-558)ctC>ctA	p.L186L	ZNF691_uc001cig.3_Silent_p.L155L|ZNF691_uc009vwm.3_Silent_p.L175L|ZNF691_uc001cih.3_Silent_p.L182L|ZNF691_uc021omi.1_Silent_p.L155L	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	186						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTCAGACCTCACCACGCACC	0.597000														54			16		4.7546e-09	5.34159e-09	0.028581	1	0
MLKL	197259	broad.mit.edu	37	16	74729257	74729257	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:74729257C>G	uc002fdb.2	-	1	840	c.399G>C	c.(397-399)tgG>tgC	p.W133C	MLKL_uc002fdc.2_Missense_Mutation_p.W133C	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	133							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTTCCTGTGCCCAGGACGCTC	0.542000														141			30		0	0	0.050027	0	0
ZNF44	51710	broad.mit.edu	37	19	12384693	12384693	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:12384693G>C	uc010xmj.2	-	4	726	c.521C>G	c.(520-522)aCt>aGt	p.T174S	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.T126S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTGTGTCCAGTATCAACTCT	0.438000														107			40		0	0	0.039052	0	0
TEX15	56154	broad.mit.edu	37	8	30704070	30704070	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:30704070T>C	uc003xil.3	-	0	2464	c.2464A>G	c.(2464-2466)Att>Gtt	p.I822V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	822										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGGAATAAATGTCAAATCCT	0.373000														80			10		0	0	0.058154	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000														35			5		0	0	0.021553	0	0
UTP14A	10813	broad.mit.edu	37	X	129045744	129045744	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrX:129045744C>T	uc004euz.3	+	5	474	c.384C>T	c.(382-384)atC>atT	p.I128I	UTP14A_uc011mup.2_Intron|UTP14A_uc011muq.2_Silent_p.I74I	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	128					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGCTTCAGATCCACAGAGAAG	0.473000														55			96		0	0	0.048971	0	0
KIF21B	23046	broad.mit.edu	37	1	200973948	200973948	+	Silent	SNP	C	A	A	rs140945427		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:200973948C>A	uc001gvs.2	-	5	1163	c.846G>T	c.(844-846)cgG>cgT	p.R282R	KIF21B_uc009wzl.2_Silent_p.R282R|KIF21B_uc001gvr.2_Silent_p.R282R|KIF21B_uc010ppn.2_Silent_p.R282R|KIF21B_uc001gvt.1_Silent_p.R65R	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	282	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TAGCCCCTGTCCGCTTCAGCC	0.597000														47			20		5.35356e-11	6.08967e-11	0.076483	1	0
C1orf9	51430	broad.mit.edu	37	1	172558217	172558217	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:172558217T>G	uc001giq.4	+	17	2292	c.1976T>G	c.(1975-1977)cTt>cGt	p.L659R	C1orf9_uc010pmm.1_Missense_Mutation_p.L659R|C1orf9_uc009wwd.3_Missense_Mutation_p.L615R|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	659					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		AAAGATTATCTTGTGTTAGCT	0.383000														52			29		0	0	0.108266	0	0
VHL	7428	broad.mit.edu	37	3	10191506	10191506	+	Missense_Mutation	SNP	C	G	G	rs5030820		TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr3:10191506C>G	uc003bvc.3	+	2	712	c.499C>G	c.(499-501)Cgg>Ggg	p.R167G	VHL_uc003bvd.3_Missense_Mutation_p.R126G	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	167			R -> G (in VHLD; type I-II).|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821).|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.R167W(16)|p.R167G(4)|p.V166D(4)|p.R167Q(4)|p.V166F(3)|p.V166I(3)|p.V166G(2)|p.R167fs*3(2)|p.R167fs*1(2)|p.V166fs*5(2)|p.V166fs*6(2)|p.V165_V166insV(1)|p.R167fs*6(1)|p.V166fs*8(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCAGGTTGTCCGGAGCCTAGT	0.512000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					27			18		0	0	0.062417	0	0
ZNF208	7757	broad.mit.edu	37	19	22157487	22157487	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:22157487A>T	uc021urr.1	-	3	498	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTGGTATAACCAATTTTT	0.353000														166			6		0	0	0.029380	0	0
KIAA1967	57805	broad.mit.edu	37	8	22473664	22473664	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:22473664C>T	uc003xch.3	+	13	1997	c.1748C>T	c.(1747-1749)gCc>gTc	p.A583V	KIAA1967_uc003xci.3_Missense_Mutation_p.A583V|KIAA1967_uc003xcj.1_Missense_Mutation_p.A252V	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	583					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AAGGAAGAAGCCACCAAGGAG	0.552000														80			32		0	0	0.054565	0	0
TELO2	9894	broad.mit.edu	37	16	1552985	1552985	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:1552985G>T	uc002cly.3	+	14	2115	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	608						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCTCCGGCAGCGCATGGACA	0.622000														118			16		4.75885e-15	5.48171e-15	0.033300	1	0
SCGN	10590	broad.mit.edu	37	6	25701539	25701539	+	Silent	SNP	T	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr6:25701539T>C	uc003nfb.3	+	10	1010	c.807T>C	c.(805-807)tgT>tgC	p.C269C	SCGN_uc010jpz.3_Silent_p.C160C	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	269	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGGCTTTGTGTCTTGGGCTGA	0.463000														111			49		0	0	0.048971	0	0
KIAA1109	84162	broad.mit.edu	37	4	123128292	123128292	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:123128292G>C	uc003ieh.3	+	13	1571	c.1526G>C	c.(1525-1527)aGt>aCt	p.S509T	KIAA1109_uc003iei.1_Missense_Mutation_p.S263T|KIAA1109_uc010ins.1_5'UTR|KIAA1109_uc003iej.1_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	509					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTAGTGACAGTCCTCCAGAC	0.313000														170			55		0	0	0.048971	0	0
ERG	2078	broad.mit.edu	37	21	39775557	39775557	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:39775557C>T	uc010gnw.3	-	5	779	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	ERG_uc021wjd.1_Missense_Mutation_p.V162I|ERG_uc002yxa.3_Missense_Mutation_p.V155I|ERG_uc011aek.2_Missense_Mutation_p.V63I|ERG_uc010gnv.3_Missense_Mutation_p.V63I|ERG_uc010gnx.3_Missense_Mutation_p.V162I|ERG_uc011ael.2_Missense_Mutation_p.V162I|ERG_uc002yxb.3_Missense_Mutation_p.V162I|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.V162I|ERG_uc010gny.1_Non-coding_Transcript	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	162	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AAGATGTTGACGTCTGGAAGG	0.527000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									81			8		0	0	0.038147	0	0
DICER1	23405	broad.mit.edu	37	14	95562982	95562982	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:95562982C>A	uc001ydw.2	-	23	4487	c.4275G>T	c.(4273-4275)gaG>gaT	p.E1425D	DICER1_uc010avh.1_Missense_Mutation_p.E323D|DICER1_uc021sbc.1_Missense_Mutation_p.E1425D|DICER1_uc001ydv.2_Missense_Mutation_p.E1415D|DICER1_uc001ydx.2_Missense_Mutation_p.E1425D|DICER1_uc001ydy.1_Missense_Mutation_p.E277D	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1425					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1424G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATCAGGCTctcctcctcct	0.478000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					30			19		4.96729e-08	5.51248e-08	0.049695	1	0
UBE2L3	7332	broad.mit.edu	37	22	21975858	21975858	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr22:21975858G>C	uc002zva.1	+	3	442	c.365G>C	c.(364-366)cGg>cCg	p.R122P	UBE2L3_uc002zuz.1_3'UTR|UBE2L3_uc011aig.2_Missense_Mutation_p.R90P	NM_003347	NP_003338	P68036	UB2L3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 3 (UBE2L3), transcript variant 1, mRNA.	122					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					CACCCGCTTCGGGCTGACCTA	0.478000														27			16		0	0	0.033300	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														22			4		0	0	0.014758	0	0
ANP32D	23519	broad.mit.edu	37	12	48866684	48866684	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:48866684C>T	uc010slt.2	+	0	237	c.237C>T	c.(235-237)ggC>ggT	p.G79G		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	79										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CCTCAGTGGGCCTAGAAGTAT	0.378000														62			34		0	0	0.050027	0	0
ALPK1	80216	broad.mit.edu	37	4	113333046	113333046	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:113333046G>A	uc003ian.4	+	4	567	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.V114M|ALPK1_uc011cfx.2_Missense_Mutation_p.V36M|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	114							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGTGTTCTTGGTGGACCGGTT	0.622000														29			7		0	0	0.029380	0	0
GJB5	2709	broad.mit.edu	37	1	35223072	35223072	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:35223072C>A	uc001bxu.3	+	1	241	c.141C>A	c.(139-141)gaC>gaA	p.D47E	GJB5_uc021okz.1_Missense_Mutation_p.D47E|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	47					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GGAGTGATGACCACAAGGACT	0.592000														61			4		0.00024832	0.000259737	0.009096	1	0
DDX47	51202	broad.mit.edu	37	12	12974592	12974592	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:12974592T>C	uc001rav.3	+	6	972	c.374T>C	c.(373-375)gTg>gCg	p.V125A	DDX47_uc009zhw.1_Missense_Mutation_p.V125A|DDX47_uc001rax.3_Missense_Mutation_p.V125A|DDX47_uc001ray.3_Missense_Mutation_p.V125A|DDX47_uc010shn.1_3'UTR	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	125	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTGTAGCTGTGATTGTAGGT	0.358000														54			30		0	0	0.041601	0	0
FBXO34	55030	broad.mit.edu	37	14	55818351	55818351	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:55818351C>G	uc021rtk.1	+	0	1243	c.1243C>G	c.(1243-1245)Cct>Gct	p.P415A	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.P415A|FBXO34_uc010aoo.3_Missense_Mutation_p.P415A	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	415										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CGTTGGGTTACCTTTTTCCTC	0.458000														132			46		0	0	0.048971	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117043	117043	+	RNA	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrGL000205.1:117043C>T	uc002kgk.4	+	0		c.421C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GACAACCCATCGTGTGAACTA	0.453000														17			3		0	0	0.004672	0	0
UBTF	7343	broad.mit.edu	37	17	42289818	42289818	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:42289818G>C	uc010czs.3	-	7	961	c.665C>G	c.(664-666)aCt>aGt	p.T222S	UBTF_uc002igc.3_Intron|UBTF_uc002igd.3_Intron|UBTF_uc010czt.3_Missense_Mutation_p.T222S|UBTF_uc002ige.2_Intron	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	222					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTCCTTCGTAGTGGCCTGCAA	0.637000														118			39		0	0	0.086207	0	0
MYO1D	4642	broad.mit.edu	37	17	30932193	30932193	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:30932193C>T	uc002hho.1	-	20	2788	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	MYO1D_uc002hhp.1_Missense_Mutation_p.D926N	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	926						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACAATGAGGTCTTTGTTGTCT	0.423000														76			18		0	0	0.038395	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														17			3		0	0	0.004672	0	0
SRSF4	6429	broad.mit.edu	37	1	29475685	29475685	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:29475685C>T	uc001bro.3	-	5	1095	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	SRSF4_uc010ofy.2_Silent_p.P139P	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	241	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTTCTTgctccggctccgact	0.592000														124			13		0	0	0.020292	0	0
HTR1A	3350	broad.mit.edu	37	5	63257393	63257393	+	Silent	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:63257393G>A	uc011cqt.2	-	0	154	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	52					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCATTGCCCAGCACCGCGCAG	0.592000														73			3		0	0	0.004672	0	0
SKIV2L	6499	broad.mit.edu	37	6	31937328	31937328	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr6:31937328G>A	uc003nyn.1	+	27	3966	c.3577G>A	c.(3577-3579)Gag>Aag	p.E1193K	SKIV2L_uc011dou.1_Missense_Mutation_p.E1035K|SKIV2L_uc011dov.1_Missense_Mutation_p.E1000K|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1193						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGGGACCCCTGAGGGCCTGGT	0.662000														101			35		0	0	0.069456	0	0
FMO1	2326	broad.mit.edu	37	1	171247924	171247924	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:171247924A>T	uc009wvz.3	+	4	677	c.541A>T	c.(541-543)Ata>Tta	p.I181L	FMO1_uc010pme.2_Missense_Mutation_p.I118L|FMO1_uc001ghl.3_Missense_Mutation_p.I181L|FMO1_uc001ghm.3_Missense_Mutation_p.I181L	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	181					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCATCCAGATATATTTAAGGA	0.418000														81			41		0	0	0.086207	0	0
GAS7	8522	broad.mit.edu	37	17	9846496	9846496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:9846496G>A	uc002gmg.1	-	6	834	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	GAS7_uc010vvc.1_Nonsense_Mutation_p.Q39*|GAS7_uc002gmh.1_Nonsense_Mutation_p.Q85*|GAS7_uc010vvd.1_Nonsense_Mutation_p.Q177*|GAS7_uc002gmi.2_Nonsense_Mutation_p.Q161*|GAS7_uc002gmj.1_Nonsense_Mutation_p.Q165*|GAS7_uc010coh.1_Nonsense_Mutation_p.Q165*	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	225	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.L224H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCTGTTTCTGGAGCAGTAGT	0.552000			T	MLL	AML*									264			13		0	0	0.024245	0	0
TDG	6996	broad.mit.edu	37	12	104380795	104380795	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr12:104380795C>T	uc001tkg.3	+	9	1383	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	TDG_uc009zuk.3_Missense_Mutation_p.S383L|TDG_uc010swi.2_Missense_Mutation_p.S244L|TDG_uc010swj.2_Missense_Mutation_p.S175L	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	387					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATGACCCAGTCATTTACAGAC	0.413000								Base excision repair (BER), DNA glycosylases						149			6		0	0	0.021553	0	0
ECI2	10455	broad.mit.edu	37	6	4128067	4128067	+	Splice_Site	SNP	T	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr6:4128067T>A	uc003mwf.3	-	5	539	c.502_splice	c.e5-1	p.M168_splice	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Splice_Site_p.M138_splice|ECI2_uc003mwc.3_Splice_Site|ECI2_uc003mwd.3_Splice_Site_p.M138_splice|ECI2_uc003mwe.3_Splice_Site_p.M15_splice|ECI2_uc010jnr.1_Splice_Site	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	168	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATGATACATCTGTGTAATGGG	0.398000														119			43		0	0	0.048971	0	0
CPO	130749	broad.mit.edu	37	2	207827299	207827299	+	Silent	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:207827299C>T	uc002vby.2	+	6	784	c.738C>T	c.(736-738)taC>taT	p.Y246Y		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	246					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TCACACCTTACGGCTACACCA	0.448000														195			12		0	0	0.020292	0	0
APBB2	323	broad.mit.edu	37	4	41015603	41015603	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr4:41015603T>A	uc003gvn.3	-	5	1462	c.832A>T	c.(832-834)Aca>Tca	p.T278S	APBB2_uc003gvl.3_Missense_Mutation_p.T278S|APBB2_uc003gvm.3_Missense_Mutation_p.T278S|APBB2_uc011byt.1_Missense_Mutation_p.T261S	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	278					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGGGTACCTGTTTCATCCGGG	0.507000														210			83		0	0	0.048971	0	0
CACHD1	57685	broad.mit.edu	37	1	65143946	65143946	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:65143946G>A	uc001dbo.1	+	22	3149	c.3044G>A	c.(3043-3045)gGg>gAg	p.G1015E	CACHD1_uc001dbp.1_Missense_Mutation_p.G770E|CACHD1_uc001dbq.1_Missense_Mutation_p.G770E|CACHD1_uc010opa.1_Missense_Mutation_p.G259E	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1066					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTTCGGGGGGATTGTGGGA	0.473000														63			5		0	0	0.014758	0	0
ZNF778	197320	broad.mit.edu	37	16	89288533	89288533	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:89288533A>T	uc021tms.1	+	2	398	c.59A>T	c.(58-60)cAt>cTt	p.H20L	ZNF778_uc010vpg.2_5'UTR|ZNF778_uc002fmv.3_Missense_Mutation_p.H20L|ZNF778_uc002fmw.2_Intron	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GTCTGCCTTCATGAAGAACAG	0.443000														85			3		0	0	0.009096	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														75			3		0	0	0.009096	0	0
BDP1	55814	broad.mit.edu	37	5	70800508	70800508	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:70800508C>T	uc003kbp.1	+	15	2565	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	BDP1_uc003kbn.1_Nonsense_Mutation_p.Q768*|BDP1_uc003kbo.3_Nonsense_Mutation_p.Q768*	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	768					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTCATATTACAGCCTGAGAA	0.328000														85			36		0	0	0.074837	0	0
MUC16	94025	broad.mit.edu	37	19	9046479	9046479	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:9046479C>G	uc002mkp.3	-	4	35356	c.35152G>C	c.(35152-35154)Gta>Cta	p.V11718L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11720	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCCATTACAGGTGTGGCA	0.502000														96			37		0	0	0.092188	0	0
RCAN3	11123	broad.mit.edu	37	1	24840967	24840967	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr1:24840967delT	uc021ojc.1	+	1	277	c.105delT	c.(103-105)gatfs	p.D35fs	RCAN3_uc021ojd.1_Intron|RCAN3_uc021oje.1_Frame_Shift_Del_p.D35fs|RCAN3_uc001bjj.3_Frame_Shift_Del_p.D35fs|RCAN3_uc009vre.3_Frame_Shift_Del_p.D35fs|RCAN3_uc021ojf.1_Intron|RCAN3_uc021ojg.1_Frame_Shift_Del_p.D35fs|RCAN3_uc009vrg.3_Frame_Shift_Del_p.D35fs|RCAN3_uc009vrd.3_Frame_Shift_Del_p.D35fs|RCAN3_uc009vrf.3_Frame_Shift_Del_p.D35fs	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	35					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		ATGAAGATGATTTGGATGAGA	0.433													---	82	---	---	21	---					
GPR155	151556	broad.mit.edu	37	2	175346653	175346657	+	Frame_Shift_Del	DEL	GTTAA	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr2:175346653_175346657delGTTAA	uc002uit.3	-	2	419_423	c.28_32delTTAAC	c.(28-33)ttaaccfs	p.L10fs	GPR155_uc002uiu.3_Frame_Shift_Del_p.L10fs|GPR155_uc002uiv.3_Frame_Shift_Del_p.L10fs|GPR155_uc010fqs.3_Frame_Shift_Del_p.L10fs	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	10					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACTGCAATGGTTAAGTTCTCTGCA	0.400													---	119	---	---	45	---					
SAR1B	51128	broad.mit.edu	37	5	133956720	133956720	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:133956720delT	uc003kzq.3	-	3	334	c.81delA	c.(79-81)aaafs	p.K27fs	SAR1B_uc003kzr.3_Frame_Shift_Del_p.K27fs	NM_001033503	NP_057187	Q9Y6B6	SAR1B_HUMAN	Homo sapiens SAR1 homolog B (S. cerevisiae) (SAR1B), transcript variant 1, mRNA.	27					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	ER to Golgi transport vesicle membrane|Golgi cisterna membrane|cytosol|endoplasmic reticulum membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATACCAGTTTACCAGTTT	0.343													---	131	---	---	41	---					
MAML1	9794	broad.mit.edu	37	5	179192969	179192987	+	Frame_Shift_Del	DEL	GGGTCTGCAGGGCAGACCT	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr5:179192969_179192987delGGGTCTGCAGGGCAGACCT	uc003mkm.3	+	1	1221_1239	c.958_976delGGGTCTGCAGGGCAGACCT	c.(958-978)gggtctgcagggcagacctttfs	p.G320fs	MAML1_uc003mkn.1_Frame_Shift_Del_p.G320fs	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	320					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGAGGGCCGGGTCTGCAGGGCAGACCTTTCTGGGGCC	0.571													---	71	---	---	19	---					
CADPS2	93664	broad.mit.edu	37	7	122130209	122130210	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr7:122130209_122130210insA	uc022akp.1	-	10	2199_2200	c.1777_1778insT	c.(1777-1779)tatfs	p.Y593fs	CADPS2_uc003vkg.4_Frame_Shift_Ins_p.Y293fs|CADPS2_uc022akq.1_Frame_Shift_Ins_p.Y593fs|CADPS2_uc010lkq.3_Frame_Shift_Ins_p.Y593fs|CADPS2_uc022akr.1_Frame_Shift_Ins_p.Y593fs	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	593					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACTGGTTTATATGATTGACCT	0.376													---	104	---	---	39	---					
SVEP1	79987	broad.mit.edu	37	9	113265327	113265327	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr9:113265327delG	uc010mtz.3	-	5	1811	c.1474delC	c.(1474-1476)cggfs	p.R492fs	SVEP1_uc010mua.1_Frame_Shift_Del_p.R492fs|SVEP1_uc004beu.2_Frame_Shift_Del_p.R492fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	492	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCACACACCGGGGTTCTGGC	0.443													---	81	---	---	29	---					
MTCH2	23788	broad.mit.edu	37	11	47653227	47653227	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr11:47653227delG	uc010rho.2	-	5	595	c.406delC	c.(406-408)ctcfs	p.L136fs	MTCH2_uc010rhp.2_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	136					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGTGTGATGAGGGTAGCAGCA	0.433													---	43	---	---	23	---					
CHD8	57680	broad.mit.edu	37	14	21862522	21862522	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr14:21862522delT	uc001war.2	-	29	5578	c.5513delA	c.(5512-5514)aagfs	p.K1838fs	CHD8_uc001was.2_Frame_Shift_Del_p.K1559fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1838					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCATCTGTCTTTTTGTCTAG	0.498													---	59	---	---	24	---					
NFATC3	4775	broad.mit.edu	37	16	68200904	68200904	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr16:68200904delT	uc002evo.2	+	4	2076	c.1760delT	c.(1759-1761)atafs	p.I587fs	NFATC3_uc010vkl.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkm.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkn.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vko.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkp.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkq.2_Frame_Shift_Del_p.I108fs|NFATC3_uc002evl.3_Frame_Shift_Del_p.I108fs|NFATC3_uc002evk.3_Frame_Shift_Del_p.I587fs|NFATC3_uc002evm.2_Frame_Shift_Del_p.I587fs|NFATC3_uc002evn.2_Frame_Shift_Del_p.I587fs|NFATC3_uc010vkr.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vks.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkt.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vku.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkv.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkw.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkx.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vky.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vkz.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vla.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vlb.2_Frame_Shift_Del_p.I108fs|NFATC3_uc010vlc.2_Frame_Shift_Del_p.I108fs	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	587	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATAGCCTCTATACCCGTTGAG	0.383													---	154	---	---	10	---					
ERBB2	2064	broad.mit.edu	37	17	37883164	37883164	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr17:37883164delT	uc002hso.3	+	24	3305	c.3067delT	c.(3067-3069)tatfs	p.Y1023fs	ERBB2_uc010cwa.3_Frame_Shift_Del_p.Y1008fs|ERBB2_uc002hsm.3_Frame_Shift_Del_p.Y993fs|ERBB2_uc002hsp.3_Frame_Shift_Del_p.Y826fs|ERBB2_uc010cwb.3_Frame_Shift_Del_p.Y1023fs|ERBB2_uc010wek.2_Frame_Shift_Del_p.Y747fs	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1023					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|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|ErbB-3 class receptor binding|epidermal growth factor receptor activity|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)	TGCTGAGGAGTATCTGGTACC	0.627		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			---	343	---	---	7	---					
SERPINB2	5055	broad.mit.edu	37	18	61584738	61584739	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr18:61584738_61584739insA	uc010xev.2	+	2	307_308	c.217_218insA	c.(217-219)gaafs	p.E73fs	SERPINB2_uc002ljp.1_Frame_Shift_Ins_p.E214fs|SERPINB2_uc002ljq.1_Frame_Shift_Ins_p.E187fs|SERPINB2_uc010xew.2_Frame_Shift_Ins_p.E73fs	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	83					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R76fs*7(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCCTGAAAGTGAAAAAAAAAGG	0.282													---	38	---	---	7	---					
LRRC8E	80131	broad.mit.edu	37	19	7960603	7960603	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:7960603delG	uc002mir.3	+	1	216	c.115delG	c.(115-117)gggfs	p.G39fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	39						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCTCATGATTGGGGTCTTTGG	0.627													---	51	---	---	17	---					
CALR	811	broad.mit.edu	37	19	13054650	13054658	+	In_Frame_Del	DEL	GAGGATGAG	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:13054650_13054658delGAGGATGAG	uc002mvu.2	+	8	1257_1265	c.1177_1185delGAGGATGAG	c.(1177-1185)gaggatgagdel	p.EDE396del	RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	396	Asp/Glu/Lys-rich.|C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ggacaaagatgaggatgaggaggatgagg	0.569													---	4	---	---	3	---					
ZNF225	7768	broad.mit.edu	37	19	44636328	44636328	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr19:44636328delT	uc002oyj.1	+	4	1804	c.1561delT	c.(1561-1563)tttfs	p.F521fs	ZNF225_uc010ejf.1_Frame_Shift_Del_p.F521fs	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TGGGAAAAGATTTACTCAGAA	0.388													---	115	---	---	12	---					
CEP250	11190	broad.mit.edu	37	20	34064377	34064378	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr20:34064377_34064378insT	uc021wco.1	+	15	2467_2468	c.1820_1821insT	c.(1819-1821)gctfs	p.A607fs	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	607	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAAATGAGGCTTTGGCGTTAG	0.515													---	51	---	---	23	---					
PRMT2	3275	broad.mit.edu	37	21	48056904	48056905	+	Splice_Site	INS	-	AA	AA			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chr21:48056904_48056905insAA	uc002zjx.3	+	3	373	c.39_splice	c.e3+2	p.Q13_splice	PRMT2_uc021wkc.1_Splice_Site_p.Q13_splice|PRMT2_uc002zjw.3_Splice_Site_p.Q13_splice|PRMT2_uc002zjy.3_Splice_Site_p.Q13_splice|PRMT2_uc010gqm.3_Splice_Site_p.Q13_splice|PRMT2_uc011aga.2_Splice_Site_p.Q13_splice|PRMT2_uc011agb.2_Splice_Site_p.Q13_splice|PRMT2_uc011agc.2_Splice_Site_p.Q13_splice	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	13					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GAATCGCAGGTAATTTCCGTTC	0.421													---	40	---	---	12	---					
ATXN3L	92552	broad.mit.edu	37	X	13337247	13337248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrX:13337247_13337248delTG	uc010ned.3	-	0	1271_1272	c.806_807delCA	c.(805-807)acafs	p.T269fs		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	269					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACACATGATGTCTTTGGAAG	0.426													---	159	---	---	205	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	-	-			TCGA-BQ-5892-01A-11D-1589-08	TCGA-BQ-5892-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e208c0a-d4dc-41d8-9f75-740d3fbf33ba	2684973c-b534-4ced-a232-197ba7e30757	g.chrX:73047124_73047125delAC	uc004ebn.2	+	0		c.35085_35086delAC			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GCCACACATGACACACACACAC	0.470													---	105	---	---	7	---					
