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
SLC10A6	345274	broad.mit.edu	37	4	87749228	87749228	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:87749228G>C	uc003hqd.2	-	3	827	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	227						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGATGGTCAGAAGGGTGATG	0.498000														27			14		0	0	0.016723	0	0
SIK1	150094	broad.mit.edu	37	21	44841223	44841223	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:44841223T>C	uc002zdf.2	-	5	651	c.524A>G	c.(523-525)aAg>aGg	p.K175R		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	175	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CTCTCCTGACTTGTAGAAATT	0.567000														60			36		0	0	0.006999	0	0
CCT7	10574	broad.mit.edu	37	2	73471795	73471795	+	Silent	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:73471795G>T	uc002siz.3	+	5	713	c.570G>T	c.(568-570)ctG>ctT	p.L190L	CCT7_uc010yrf.2_Silent_p.L146L|CCT7_uc010yrh.2_Silent_p.L62L|CCT7_uc010yrg.2_Silent_p.L90L|CCT7_uc010yri.2_Silent_p.L103L|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	190					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ATGATTTGCTGCAGCTTAAAA	0.498000														23			10		3.07112e-06	3.14986e-05	0.010729	1	0
NPC1	4864	broad.mit.edu	37	18	21128030	21128030	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr18:21128030G>T	uc002kum.4	-	10	1971	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	NPC1_uc010xaz.2_Intron|NPC1_uc010xba.1_Missense_Mutation_p.P411H	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	566					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTATTGACAGGGAAGGTAAT	0.423000														96			61		1.3268e-25	1.47423e-24	0.014410	1	0
PIK3R1	5295	broad.mit.edu	37	5	67576767	67576767	+	Silent	SNP	T	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:67576767T>G	uc003jva.3	+	6	1429	c.849T>G	c.(847-849)acT>acG	p.T283T		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	283	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGATAATACTGAAAACCTCA	0.328000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				35			15		0	0	0.004007	0	0
NANS	54187	broad.mit.edu	37	9	100840514	100840514	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:100840514A>G	uc004ayc.3	+	3	620	c.488A>G	c.(487-489)gAc>gGc	p.D163G	TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Missense_Mutation_p.D11G	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	163					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAGTCAATGGACACCATGAAG	0.522000														65			36		0	0	0.010771	0	0
CLDN18	51208	broad.mit.edu	37	3	137742626	137742626	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:137742626A>T	uc003ero.1	+	1	400	c.347A>T	c.(346-348)aAc>aTc	p.N116I	CLDN18_uc003erp.1_Missense_Mutation_p.N116I|CLDN18_uc010hue.1_Missense_Mutation_p.Q111H	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	116					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCCAAAGCCAACATGACACTG	0.502000														39			19		0	0	0.008871	0	0
TLR3	7098	broad.mit.edu	37	4	187004092	187004092	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:187004092A>C	uc003iyq.3	+	3	1353	c.1252A>C	c.(1252-1254)Aaa>Caa	p.K418Q	TLR3_uc011ckz.2_Missense_Mutation_p.K141Q|TLR3_uc003iyr.3_Missense_Mutation_p.K141Q	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	418					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AACCAAGAATAAAATCTCAAA	0.403000														43			21		0	0	0.018920	0	0
ADAR	103	broad.mit.edu	37	1	154574741	154574741	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:154574741A>G	uc001ffh.3	-	1	619	c.377T>C	c.(376-378)cTt>cCt	p.L126P	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.L126P|ADAR_uc001ffi.3_Missense_Mutation_p.L126P|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.2_Intron	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	126					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGTGAGGAAAGGCAATCAAC	0.537000														17			22		0	0	0.012319	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:94030836C>A	uc003kkr.4	+	20	3076	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_uc003kks.3_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000														65			9		7.93312e-07	8.35065e-06	0.020292	1	0
abParts	0	broad.mit.edu	37	2	90121923	90121923	+	RNA	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:90121923G>A	uc010yts.2	+	28		c.3063G>A								Parts of antibodies, mostly variable regions.																		CTTGTCGGGCGAGGCAGGGCA	0.502000														264			43		0	0	0.014410	0	0
TMEM41A	90407	broad.mit.edu	37	3	185209397	185209397	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:185209397T>A	uc003fpj.2	-	4	819	c.723A>T	c.(721-723)aaA>aaT	p.K241N		NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	241						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTGACTAAATTTTTTAATGA	0.408000														44			32		0	0	0.017118	0	0
NOVA2	4858	broad.mit.edu	37	19	46443735	46443735	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:46443735A>G	uc002pdv.2	-	3	913	c.865T>C	c.(865-867)Tac>Cac	p.Y289H		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	289	Ala-rich.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TTGTAGCCGTAACTTGCCAGC	0.731000														13			3		0	0	0.009096	0	0
NRK	203447	broad.mit.edu	37	X	105167297	105167297	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chrX:105167297A>G	uc004emd.3	+	17	3101	c.2798A>G	c.(2797-2799)gAt>gGt	p.D933G	NRK_uc010npc.1_Missense_Mutation_p.D601G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	933	Asp-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						actgatggtgatgatgatgat	0.418000										HNSCC(51;0.14)				5			2		0	0	0.004672	0	0
ATP10D	57205	broad.mit.edu	37	4	47538506	47538506	+	Silent	SNP	C	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:47538506C>A	uc003gxk.1	+	7	1232	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Silent_p.P356P	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	356					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P356P(2)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAATGTTCCCGAGCCTGATG	0.358000														249			8		0.000274275	0.00270889	0.004482	1	0
AP1M1	8907	broad.mit.edu	37	19	16339616	16339616	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:16339616C>G	uc002ndv.2	+	9	1133	c.960C>G	c.(958-960)aaC>aaG	p.N320K	AP1M1_uc002ndu.2_Missense_Mutation_p.N308K|AP1M1_uc010xpd.1_Intron	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	308	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACAGCCAACAACGTGGAGA	0.617000														30			16		0	0	0.006122	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746234	110746234	+	Nonsense_Mutation	SNP	C	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr6:110746234C>A	uc003puf.3	-	7	1643	c.1576G>T	c.(1576-1578)Gaa>Taa	p.E526*	SLC22A16_uc003pue.3_Nonsense_Mutation_p.E507*	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	526					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCAAGGGTTTCTGGAAGCTTT	0.408000														69			37		6.1244e-12	6.5327e-11	0.007835	1	0
RDBP	7936	broad.mit.edu	37	6	31922209	31922209	+	Silent	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr6:31922209T>C	uc003nyk.3	-	7	957	c.753A>G	c.(751-753)tcA>tcG	p.S251S	RDBP_uc011dot.2_Silent_p.S221S	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	251					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						GTTCAGGGAATGAATCCGACC	0.483000														47			27		0	0	0.005443	0	0
KLHL4	56062	broad.mit.edu	37	X	86773063	86773063	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chrX:86773063C>G	uc004efa.2	+	0	349	c.167C>G	c.(166-168)tCt>tGt	p.S56C	KLHL4_uc004efb.2_Missense_Mutation_p.S56C	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	56						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAGAGCCACTCTCGGGACAGA	0.547000														5			24		0	0	0.016522	0	0
ETV1	2115	broad.mit.edu	37	7	13971323	13971323	+	Silent	SNP	C	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:13971323C>G	uc021zzz.1	-	6	693	c.606G>C	c.(604-606)acG>acC	p.T202T	ETV1_uc021zzt.1_Silent_p.T162T|ETV1_uc021zzu.1_Silent_p.T99T|ETV1_uc021zzv.1_Silent_p.T144T|ETV1_uc021zzw.1_Silent_p.T162T|ETV1_uc021zzx.1_Silent_p.T99T|ETV1_uc021zzy.1_Silent_p.T144T|ETV1_uc022aaa.1_Silent_p.T184T|ETV1_uc022aab.1_Silent_p.T202T|ETV1_uc003ssw.4_Silent_p.T202T|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Silent_p.T184T|ETV1_uc022aad.1_Silent_p.T184T|ETV1_uc010ktv.3_Silent_p.T71T	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	202					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCCTTGGCATCGTCGGCAAAG	0.502000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									24			15		0	0	0.004007	0	0
CAMK2D	817	broad.mit.edu	37	4	114434488	114434488	+	Silent	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:114434488G>A	uc003ibi.3	-	11	1801	c.942C>T	c.(940-942)ttC>ttT	p.F314F	CAMK2D_uc003ibj.3_Silent_p.F314F|CAMK2D_uc003ibk.3_Silent_p.F314F|CAMK2D_uc003ibo.4_Silent_p.F314F|CAMK2D_uc003ibm.2_Silent_p.F314F|CAMK2D_uc003ibn.2_Silent_p.F314F|CAMK2D_uc003ibl.2_Silent_p.F314F	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	314					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATGTACCTGAGAAATTCCTTG	0.358000														52			30		0	0	0.005524	0	0
SETD4	54093	broad.mit.edu	37	21	37418117	37418117	+	Silent	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:37418117T>C	uc002yuw.2	-	4	1862	c.489A>G	c.(487-489)agA>agG	p.R163R	SETD4_uc021wiy.1_Silent_p.R163R|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Silent_p.R139R|SETD4_uc002yuz.3_Silent_p.R139R|SETD4_uc002yuy.3_Silent_p.R163R|SETD4_uc002yva.3_Silent_p.R139R	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	163	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCACGTGGGCTCTCTGCTCTT	0.502000														87			70		0	0	0.014410	0	0
PEX1	5189	broad.mit.edu	37	7	92151473	92151473	+	Silent	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:92151473A>G	uc003uly.3	-	1	312	c.216T>C	c.(214-216)aaT>aaC	p.N72N	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Silent_p.N72N|PEX1_uc011khs.2_Silent_p.N72N	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	72					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTCAGCCACATTTTCACCTT	0.408000														67			47		0	0	0.014410	0	0
ZNF99	7652	broad.mit.edu	37	19	22941154	22941154	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:22941154C>G	uc021urt.1	-	3	1712	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353000														44			4		0	0	0.009096	0	0
PHF21B	112885	broad.mit.edu	37	22	45312440	45312440	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr22:45312440G>T	uc003bfn.3	-	3	435	c.284C>A	c.(283-285)cCc>cAc	p.P95H	PHF21B_uc011aqk.2_Missense_Mutation_p.P83H|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.P95H|PHF21B_uc011aqm.1_Missense_Mutation_p.P83H	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	95							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GAATGTTGGGGGCTGCTTGGG	0.647000														41			25		4.87955e-14	5.34746e-13	0.005443	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	C	C	rs148060711	by1000genomes	TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000														67			4		0	0	0.001168	0	0
ACAD10	80724	broad.mit.edu	37	12	112183962	112183962	+	Silent	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:112183962T>C	uc009zvx.3	+	14	2423	c.2223T>C	c.(2221-2223)gcT>gcC	p.A741A	ACAD10_uc001tsp.3_Silent_p.A710A|ACAD10_uc001tsq.3_Silent_p.A710A|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	710							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AAGCCAAAGCTGAAGGACTTT	0.433000														56			29		0	0	0.009535	0	0
EYS	346007	broad.mit.edu	37	6	66204808	66204808	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr6:66204808T>G	uc011dxu.1	-	3	1034	c.496A>C	c.(496-498)Aat>Cat	p.N166H	EYS_uc003peq.3_Missense_Mutation_p.N166H|EYS_uc003per.1_Missense_Mutation_p.N166H|EYS_uc021zbn.1_Missense_Mutation_p.N166H|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	166					response to stimulus|visual perception	extracellular region	calcium ion binding	p.L165V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGTCACATTTAGTCGAAGT	0.423000														57			28		0	0	0.007291	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483000														45			3		0	0	0.004672	0	0
X97876	0	broad.mit.edu	37	9	66500871	66500871	+	RNA	SNP	T	C	C	rs11262348		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:66500871T>C	uc004aed.1	+	2		c.964T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TACACGGAACTGCTGTTGGTC	0.597000														20			12		0	0	0.004990	0	0
TULP3	7289	broad.mit.edu	37	12	3048537	3048537	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr12:3048537A>C	uc001qlj.2	+	10	1337	c.1256A>C	c.(1255-1257)aAc>aCc	p.N419T	TULP3_uc009zec.1_Missense_Mutation_p.N146T|TULP3_uc010seh.1_Missense_Mutation_p.N419T|TULP3_uc010sei.1_Missense_Mutation_p.N243T	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	419					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGATTACAACTACCCACTT	0.443000														96			41		0	0	0.009718	0	0
ZFR	51663	broad.mit.edu	37	5	32403408	32403408	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:32403408G>A	uc003jhr.1	-	7	1399	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	440					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTCGGCTTTGAAGCAGATAC	0.418000														80			64		0	0	0.014410	0	0
OR13C5	138799	broad.mit.edu	37	9	107361154	107361154	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:107361154T>G	uc011lvp.2	-	0	541	c.541A>C	c.(541-543)Att>Ctt	p.I181L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACAGCTAGAATTTCACAGGTG	0.413000														195			6		0	0	0.010729	0	0
DLX3	1747	broad.mit.edu	37	17	48072053	48072053	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:48072053G>C	uc002ipy.3	-	0	536	c.310C>G	c.(310-312)Cca>Gca	p.P104A		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TCCTGGGCTGGCAGCGGCTGC	0.622000														22			20		0	0	0.016522	0	0
ZNF395	55893	broad.mit.edu	37	8	28206721	28206721	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:28206721T>C	uc003xgq.3	-	8	1439	c.1351A>G	c.(1351-1353)Agc>Ggc	p.S451G	ZNF395_uc003xgt.3_Missense_Mutation_p.S451G|ZNF395_uc003xgr.3_Missense_Mutation_p.S451G|ZNF395_uc003xgs.3_Missense_Mutation_p.S451G	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	451					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S451S(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGGGGCTCGCTGAAGCTTAGC	0.617000														39			22		0	0	0.010504	0	0
PBRM1	55193	broad.mit.edu	37	3	52588791	52588791	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:52588791G>T	uc003des.2	-	26	4570	c.4558C>A	c.(4558-4560)Ccc>Acc	p.P1520T	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Intron|PBRM1_uc003der.2_Missense_Mutation_p.P1433T|PBRM1_uc003det.2_Intron|PBRM1_uc003deu.2_Intron|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.P1465T|PBRM1_uc010hmk.1_Missense_Mutation_p.P1440T|PBRM1_uc003dey.2_Missense_Mutation_p.P1413T|PBRM1_uc003dez.1_Missense_Mutation_p.P1464T	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1520	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATGGTGGGGTGGAGGCCCC	0.582000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									20			17		3.52763e-06	3.57229e-05	0.004990	1	0
FTSJD1	55783	broad.mit.edu	37	16	71317552	71317552	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:71317552C>T	uc021tkr.1	-	0	2272	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	FTSJD1_uc010cga.3_Missense_Mutation_p.E758K|FTSJD1_uc002ezy.4_Missense_Mutation_p.E758K|FTSJD1_uc002ezz.4_Missense_Mutation_p.E758K	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	758						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTTCTCTCTCTCTTTGAATA	0.373000														45			14		0	0	0.003163	0	0
CCDC84	338657	broad.mit.edu	37	11	118869166	118869166	+	Silent	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr11:118869166C>T	uc001pul.3	+	1	203	c.147C>T	c.(145-147)cgC>cgT	p.R49R	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	49										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AGGCCATCCGCGCCGCTCAGG	0.662000														12			5		0	0	0.014758	0	0
ARID3C	138715	broad.mit.edu	37	9	34622092	34622092	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:34622092C>T	uc011lon.2	-	5	1063	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	355	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TTAAGAGGCCCATCCAGCCGC	0.517000														69			37		0	0	0.006999	0	0
LDLR	3949	broad.mit.edu	37	19	11216253	11216253	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:11216253A>C	uc002mqk.4	+	3	858	c.671A>C	c.(670-672)gAc>gCc	p.D224A	LDLR_uc010xlk.2_Missense_Mutation_p.D224A|LDLR_uc010xll.2_Missense_Mutation_p.D183A|LDLR_uc021upc.1_Missense_Mutation_p.D103A|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.D77A|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	224	LDL-receptor class A 5.		D -> G (in Italy-2).|D -> N (in Portugal).|D -> V (in FH; Cologne patient).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GACTGCAAGGACAAATCTGAC	0.647000														30			22		0	0	0.018920	0	0
CLCA2	9635	broad.mit.edu	37	1	86890015	86890015	+	Silent	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:86890015C>T	uc001dlr.4	+	0	247	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	29					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACTCCCATTCCTGGGAGCTGG	0.443000														17			32		0	0	0.009535	0	0
UBOX5	22888	broad.mit.edu	37	20	3102965	3102965	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:3102965G>A	uc002whw.3	-	2	490	c.320C>T	c.(319-321)cCa>cTa	p.P107L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whx.3_Missense_Mutation_p.P107L|UBOX5_uc002why.1_Missense_Mutation_p.P107L	NM_014948	NP_055763	O94941	RNF37_HUMAN	Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA.	107						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGGGACAGATGGCTCAGCTGG	0.567000														41			17		0	0	0.008871	0	0
THNSL1	79896	broad.mit.edu	37	10	25312238	25312238	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr10:25312238C>T	uc001isi.4	+	2	415	c.86C>T	c.(85-87)gCa>gTa	p.A29V	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.A29V	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	29					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GATAAACATGCACAGCGATTT	0.363000														61			43		0	0	0.010771	0	0
RBM23	55147	broad.mit.edu	37	14	23374814	23374814	+	Splice_Site	SNP	C	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr14:23374814C>G	uc001whg.3	-	6	654	c.455_splice	c.e6+1	p.R152_splice	RBM23_uc001whh.3_Splice_Site_p.R136_splice|RBM23_uc001whi.3_Intron|RBM23_uc010tne.2_Splice_Site|RBM23_uc001whj.3_Intron|RBM23_uc001whk.1_Splice_Site_p.R152_splice	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	152					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TATCAACCCACCTGACTGGGC	0.378000														11			20		0	0	0.016522	0	0
NOP58	51602	broad.mit.edu	37	2	203155146	203155146	+	Silent	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:203155146T>C	uc002uzb.3	+	6	750	c.600T>C	c.(598-600)gaT>gaC	p.D200D	SNORD11B_uc010ftq.1_5'Flank|SNORD11_uc002uzd.1_5'Flank	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA.	200					cell growth|rRNA processing|snRNP protein import into nucleus	Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TTATTTCAGATAATTTAACAT	0.323000														39			28		0	0	0.004656	0	0
SUN3	256979	broad.mit.edu	37	7	48035693	48035693	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr7:48035693C>T	uc003tof.3	-	7	725	c.628G>A	c.(628-630)Gca>Aca	p.A210T	SUN3_uc010kyq.3_Missense_Mutation_p.A110T|SUN3_uc003tog.3_Missense_Mutation_p.A210T|SUN3_uc011kcf.2_Missense_Mutation_p.A198T	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	210	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAATTTTGCTTTATTATTT	0.299000														61			31		0	0	0.019004	0	0
CCT7	10574	broad.mit.edu	37	2	73471796	73471796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:73471796C>T	uc002siz.3	+	5	714	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	CCT7_uc010yrf.2_Nonsense_Mutation_p.Q147*|CCT7_uc010yrh.2_Nonsense_Mutation_p.Q63*|CCT7_uc010yrg.2_Nonsense_Mutation_p.Q91*|CCT7_uc010yri.2_Nonsense_Mutation_p.Q104*|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	191					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGATTTGCTGCAGCTTAAAAT	0.498000														23			10		0	0	0.008291	0	0
TBCD	6904	broad.mit.edu	37	17	80885835	80885835	+	Silent	SNP	G	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:80885835G>C	uc002kfy.1	+	29	2794	c.2664G>C	c.(2662-2664)cgG>cgC	p.R888R	TBCD_uc002kfz.3_Silent_p.R888R|TBCD_uc002kgb.1_Silent_p.R213R|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	888					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGCTGGCTCGGAGCCAGCCTG	0.642000														45			24		0	0	0.008361	0	0
ADCY5	111	broad.mit.edu	37	3	123010068	123010068	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:123010068C>T	uc003egh.2	-	17	3219	c.3219G>A	c.(3217-3219)atG>atA	p.M1073I	ADCY5_uc021xdd.1_Missense_Mutation_p.M723I|ADCY5_uc003egg.2_Missense_Mutation_p.M731I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1073	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGAGGCGAACATGACCGCCA	0.582000														39			19		0	0	0.014323	0	0
GORASP2	26003	broad.mit.edu	37	2	171806790	171806790	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:171806790T>C	uc002ugk.3	+	3	1240	c.425T>C	c.(424-426)gTc>gCc	p.V142A	GORASP2_uc002ugj.3_Missense_Mutation_p.V74A|GORASP2_uc010zdl.2_Missense_Mutation_p.V154A|GORASP2_uc010zdm.2_Missense_Mutation_p.V98A|GORASP2_uc002ugl.3_Missense_Mutation_p.V74A	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	142						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCAGATACAGTCATGAATGAG	0.368000														36			24		0	0	0.006320	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34849806	34849806	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr17:34849806A>G	uc002hms.1	+	3	313	c.242A>G	c.(241-243)gAt>gGt	p.D81G	ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Non-coding_Transcript	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	81					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CTCAATAGTGATGAGGAAGAA	0.373000														79			48		0	0	0.014410	0	0
RUSC2	9853	broad.mit.edu	37	9	35547391	35547391	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:35547391G>C	uc003zww.3	+	1	1128	c.873G>C	c.(871-873)atG>atC	p.M291I	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.M291I	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	291						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACAACAAGATGCATGGCACCC	0.582000														49			23		0	0	0.005443	0	0
SMG1	23049	broad.mit.edu	37	16	18840922	18840922	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:18840922G>T	uc002dfm.3	-	53	9652	c.9289C>A	c.(9289-9291)Cta>Ata	p.L3097I	SMG1_uc010bwb.3_Missense_Mutation_p.L2957I|SMG1_uc010bwa.3_Missense_Mutation_p.L1828I	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3097					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q3096*(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGGTTGGGTAGCCCTATCAAG	0.468000														24			37		6.29468e-14	6.80506e-13	0.021022	1	0
PLCG2	5336	broad.mit.edu	37	16	81990321	81990321	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr16:81990321T>G	uc002fgt.3	+	31	3770	c.3592T>G	c.(3592-3594)Tcc>Gcc	p.S1198A		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1198					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGAACTTTACTCCTCCTGTCG	0.527000														46			25		0	0	0.004656	0	0
PSD3	23362	broad.mit.edu	37	8	18430149	18430149	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:18430149T>A	uc003wza.3	-	13	2776	c.2673A>T	c.(2671-2673)aaA>aaT	p.K891N	PSD3_uc003wyx.4_Missense_Mutation_p.K220N|PSD3_uc003wyy.3_Missense_Mutation_p.K357N|PSD3_uc003wyz.3_Missense_Mutation_p.K192N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	892	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACAATTGATTTTGTTTATCC	0.433000														115			62		0	0	0.014410	0	0
GAS6	2621	broad.mit.edu	37	13	114523928	114523928	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr13:114523928T>C	uc001vug.3	-	6	2101	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	GAS6_uc001vud.3_Missense_Mutation_p.N649S|GAS6_uc001vuf.3_Missense_Mutation_p.N376S	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	692	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCCTCCGGTTGACCTCCAG	0.662000														23			22		0	0	0.012319	0	0
COL18A1	80781	broad.mit.edu	37	21	46911142	46911142	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:46911142G>A	uc002zhi.3	+	20	2632	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	COL18A1_uc002zhg.3_Missense_Mutation_p.D691N	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1106	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTTCCAGGGAGATCCAGGGAA	0.701000														24			15		0	0	0.003163	0	0
COL18A1	80781	broad.mit.edu	37	21	46911143	46911143	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr21:46911143A>T	uc002zhi.3	+	20	2633	c.2612A>T	c.(2611-2613)gAt>gTt	p.D871V	COL18A1_uc002zhg.3_Missense_Mutation_p.D691V	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1106	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCAGGGAGATCCAGGGAAG	0.697000														24			15		0	0	0.020292	0	0
TTN	7273	broad.mit.edu	37	2	179411556	179411556	+	Silent	SNP	A	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr2:179411556A>G	uc021vsy.1	-	289	87120	c.86895T>C	c.(86893-86895)gaT>gaC	p.D28965D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D22660D|TTN_uc021vta.1_Silent_p.D22593D|TTN_uc021vtb.1_Silent_p.D22468D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29892	Ig-like 133.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTGCCTCCATCATACGCTG	0.498000														21			20		0	0	0.010504	0	0
MYO7A	4647	broad.mit.edu	37	11	76888670	76888670	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr11:76888670A>T	uc001oyb.2	+	18	2535	c.2263A>T	c.(2263-2265)Atc>Ttc	p.I755F	MYO7A_uc010rsl.2_Missense_Mutation_p.I755F|MYO7A_uc010rsm.1_Missense_Mutation_p.I744F|MYO7A_uc001oyc.2_Missense_Mutation_p.I755F|MYO7A_uc001oyd.3_Missense_Mutation_p.I95F|MYO7A_uc009yus.1_5'Flank|MYO7A_uc009yut.1_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	755	IQ 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGAAAGTCATCCGGGGATT	0.582000														7			3		0	0	0.004672	0	0
TUSC3	7991	broad.mit.edu	37	8	15508312	15508312	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:15508312G>A	uc003wwt.3	+	2	759	c.415G>A	c.(415-417)Gtt>Att	p.V139I	TUSC3_uc003wwu.3_Missense_Mutation_p.V139I	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	139					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GGGGACAGACGTTTTTCAGCA	0.343000														105			75		0	0	0.014410	0	0
PAPD4	167153	broad.mit.edu	37	5	78975410	78975410	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr5:78975410G>C	uc010jae.1	+	13	1635	c.1217G>C	c.(1216-1218)aGt>aCt	p.S406T	PAPD4_uc003kgb.2_Missense_Mutation_p.S406T|PAPD4_uc010jaf.1_Missense_Mutation_p.S406T|PAPD4_uc003kga.2_Missense_Mutation_p.S402T|PAPD4_uc003kfz.2_Missense_Mutation_p.S363T	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	406	PAP-associated.				RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGCTGGAATAGTCAAATGATT	0.323000														34			24		0	0	0.008361	0	0
TRIM35	23087	broad.mit.edu	37	8	27168425	27168425	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr8:27168425G>T	uc003xfl.1	-	0	410	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	PTK2B_uc003xfn.2_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.L110I|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	110					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AGGCAGAAGAGGCTGAGCTGT	0.697000														14			9		1.12685e-05	0.000112685	0.004482	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													---	65	---	---	8	---					
HDGF	3068	broad.mit.edu	37	1	156715103	156715104	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr1:156715103_156715104insA	uc001fpy.4	-	1	471_472	c.149_150insT	c.(148-150)ttcfs	p.F50fs	HDGF_uc009wsd.3_Frame_Shift_Ins_p.F18fs|HDGF_uc001fpz.4_Frame_Shift_Ins_p.F43fs|HDGF_uc009wse.3_Frame_Shift_Ins_p.F66fs|HDGF_uc010phr.2_Frame_Shift_Ins_p.F66fs|HDGF_uc009wsf.3_Frame_Shift_Ins_p.F18fs	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	50	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CGTGGGTCCCGAAAAAAAAGAC	0.564													---	8	---	---	13	---					
DALRD3	55152	broad.mit.edu	37	3	49055671	49055671	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr3:49055671delG	uc003cvk.1	-	1	266	c.246delC	c.(244-246)cccfs	p.P82fs	DALRD3_uc003cvl.1_Frame_Shift_Del_p.P82fs|DALRD3_uc003cvm.1_5'UTR|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Frame_Shift_Del_p.P82fs|NDUFAF3_uc003cvn.3_5'Flank|NDUFAF3_uc003cvp.3_5'Flank	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	82					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity	p.A82D(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACAGACCCGCGGGGGTCGGCG	0.741													---	4	---	---	2	---					
PROM1	8842	broad.mit.edu	37	4	15989284	15989287	+	Splice_Site	DEL	ACCA	-	-			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr4:15989284_15989287delACCA	uc003goo.2	-	19	2342	c.2130_splice	c.e19+1	p.L710_splice	PROM1_uc003gor.2_Splice_Site_p.L710_splice|PROM1_uc003gos.2_Splice_Site_p.L701_splice|PROM1_uc003got.2_Splice_Site_p.L710_splice|PROM1_uc003gou.2_Splice_Site_p.L701_splice|PROM1_uc003gop.2_Splice_Site_p.L701_splice|PROM1_uc003goq.3_Splice_Site_p.L701_splice	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	710					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GTAAACCCTTACCAACAATCCATT	0.343													---	166	---	---	69	---					
DOLK	22845	broad.mit.edu	37	9	131708944	131708945	+	Frame_Shift_Ins	INS	-	G	G			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr9:131708944_131708945insG	uc004bwr.3	-	0	1068_1069	c.638_639insC	c.(637-639)ctgfs	p.L213fs	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	213					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACCAGTGTCAGAGAGCGCTT	0.550													---	67	---	---	35	---					
RNF165	494470	broad.mit.edu	37	18	44013351	44013353	+	In_Frame_Del	DEL	CCC	-	-			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr18:44013351_44013353delCCC	uc002lcb.1	+	1	311_313	c.260_262delCCC	c.(259-264)accctg>atg	p.87_88TL>M	RNF165_uc002lby.1_In_Frame_Del_p.20_21TL>M|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	87							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCGCTGCCCACCCTGCAGTTCCA	0.700													---	36	---	---	15	---					
MAST3	23031	broad.mit.edu	37	19	18254602	18254603	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:18254602_18254603insCT	uc002nhz.4	+	20	2282_2283	c.2282_2283insCT	c.(2281-2283)tccfs	p.S761fs		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	761							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGATCCTCCTGTCAGTCAT	0.599													---	15	---	---	9	---					
SAMD4B	55095	broad.mit.edu	37	19	39868382	39868391	+	Frame_Shift_Del	DEL	TCCCACTGAT	-	-	rs149585231		TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr19:39868382_39868391delTCCCACTGAT	uc002olb.3	+	9	2397_2406	c.1362_1371delTCCCACTGAT	c.(1360-1371)gctcccactgatfs	p.A454fs	SAMD4B_uc002ola.3_Frame_Shift_Del_p.A454fs	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	454							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCTCCAGCTCCCACTGATGGCAGTGAGC	0.648													---	51	---	---	10	---					
HAO1	54363	broad.mit.edu	37	20	7886831	7886832	+	In_Frame_Ins	INS	-	TTT	TTT			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:7886831_7886832insTTT	uc002wmw.1	-	3	714_715	c.690_691insAAA	c.(688-693)insAAA	p.230_231insK	HAO1_uc010gbu.3_In_Frame_Ins_p.230_231insK	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	230	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.T229K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAATTGGCAATGATGTCAGTC	0.386													---	132	---	---	51	---					
BPIFB2	80341	broad.mit.edu	37	20	31604905	31604906	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chr20:31604905_31604906insT	uc002wyj.3	+	6	768_769	c.574_575insT	c.(574-576)attfs	p.I192fs		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	192						extracellular region	lipid binding										GGGCACCTTAATTGGTAAGATC	0.619													---	75	---	---	35	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-A4-7583-01A-11D-2136-08	TCGA-A4-7583-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b40c1178-c913-4b63-8863-f631473fffde	0a94c473-a646-42ca-9537-145517302063	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													---	4	---	---	2	---					
