Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RNASE3	6037	broad.mit.edu	37	14	21360150	21360150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:21360150G>T	ENST00000304639.3	+	2	363	c.305G>T	c.(304-306)aGa>aTa	p.R102I		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	102					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CATCGGAGTAGATTCCGGGTG	0.418000													34	67					2.05212e-20	2.20277e-20	0.812448	1	0
MICAL1	64780	broad.mit.edu	37	6	109768352	109768352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:109768352G>C	ENST00000368952.4	-	17	2498	c.2208C>G	c.(2206-2208)ttC>ttG	p.F736L	MICAL1_ENST00000358807.3_Missense_Mutation_p.F717L|MICAL1_ENST00000358577.3_Missense_Mutation_p.F631L			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	717	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCTCCGGTGGAAGAAATGGC	0.627000													30	66					0	0	0.779181	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740114	106740114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740114C>G	ENST00000299045.3	+	10	1540	c.1366C>G	c.(1366-1368)Caa>Gaa	p.Q456E		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	456										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCCAAGCCCTCAAAAATGCAT	0.398000													12	21					0	0	0.387290	0	0
FAM111B	374393	broad.mit.edu	37	11	58892744	58892744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58892744C>G	ENST00000343597.3	+	4	1365	c.1174C>G	c.(1174-1176)Caa>Gaa	p.Q392E	FAM111B_ENST00000529618.1_Missense_Mutation_p.Q362E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q362E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	392							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AAAGAATTATCAAACGTTGAA	0.388000													22	66					0	0	0.639603	0	0
SLC5A4	6527	broad.mit.edu	37	22	32626965	32626965	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32626965C>G	ENST00000266086.4	-	10	1130	c.1119G>C	c.(1117-1119)ctG>ctC	p.L373L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	373					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGGGGCATCAGTTCCAGCA	0.537000													14	44					0	0	0.539581	0	0
MAN1B1	11253	broad.mit.edu	37	9	140002847	140002847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002847C>G	ENST00000371589.4	+	13	1977	c.1904C>G	c.(1903-1905)tCg>tGg	p.S635W	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.S338W	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	635					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAGGTCCCCTCGGGTGGCTAT	0.612000													7	39					0	0	0.361761	0	0
GATC	283459	broad.mit.edu	37	12	120884567	120884567	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120884567C>T	ENST00000551806.1	+	3	283	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	GATC_ENST00000551765.1_Silent_p.F63F																							CTATCGCCTTCGCCGACCGGC	0.667000													12	29					0	0	0.457914	0	0
ARAP2	116984	broad.mit.edu	37	4	36152544	36152544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:36152544C>G	ENST00000303965.4	-	16	3364	c.2875G>C	c.(2875-2877)Gag>Cag	p.E959Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	959	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGAAGTCCTCTTTGTGTATA	0.343000													58	117					0	0	0.870114	0	0
TRHDE	29953	broad.mit.edu	37	12	72666768	72666768	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:72666768G>C	ENST00000261180.4	+	1	306	c.210G>C	c.(208-210)gcG>gcC	p.A70A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	70					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTGCGGGGCGAGTGCCACGC	0.706000													4	4					0	0	0.150653	0	0
PRDM15	63977	broad.mit.edu	37	21	43291624	43291624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:43291624G>A	ENST00000269844.3	-	4	630	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGGATTGCGTCGCAGGCCT	0.592000													24	61					0	0	0.717897	0	0
ZNF623	9831	broad.mit.edu	37	8	144732816	144732816	+	Silent	SNP	G	G	T	rs147942891		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:144732816G>T	ENST00000501748.2	+	1	863	c.774G>T	c.(772-774)acG>acT	p.T258T	ZNF623_ENST00000458270.2_Silent_p.T218T|ZNF623_ENST00000526926.1_Silent_p.T218T	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T258T(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGATTCACACGGGAGAAAGGC	0.468000													3	59					0.150653	0.152059	0.150653	1	0
CYP4F8	11283	broad.mit.edu	37	19	15734173	15734173	+	RNA	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:15734173C>T	ENST00000441682.2	+	0	967							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTGATGTGCTCCTGCTGAGCG	0.537000													12	34					0	0	0.479597	0	0
SSBP4	170463	broad.mit.edu	37	19	18543520	18543520	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18543520C>G	ENST00000270061.7	+	12	1055	c.761C>G	c.(760-762)tCc>tGc	p.S254C	SSBP4_ENST00000348495.6_Missense_Mutation_p.S232C	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4		Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						ATCCCCTACTCCTCCTCATCC	0.642000													7	16					0	0	0.335167	0	0
LYN	4067	broad.mit.edu	37	8	56866484	56866484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:56866484G>A	ENST00000520220.2	+	8	942	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	LYN_ENST00000519728.1_Missense_Mutation_p.R244Q	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	244	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGATCCCCCGGGAGTCCATC	0.527000													18	72					0	0	0.624587	0	0
FAR1	84188	broad.mit.edu	37	11	13733312	13733312	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13733312G>C	ENST00000354817.3	+	6	869	c.725G>C	c.(724-726)gGa>gCa	p.G242A	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	242					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGGTATTAGGGATGGATTGAT	0.294000													13	91					0	0	0.500413	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063468	59063468	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:59063468C>T	ENST00000600118.1	-	3	858	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CHMP2A_ENST00000312547.2_Missense_Mutation_p.D145N|CHMP2A_ENST00000601220.1_Missense_Mutation_p.D145N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	145	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCAATGGCATCATTCATCATC	0.517000													39	181					0	0	0.853193	0	0
MUC16	94025	broad.mit.edu	37	19	9001862	9001862	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:9001862C>G	ENST00000397910.4	-	53	40589	c.40386G>C	c.(40384-40386)tcG>tcC	p.S13462S	MUC16_ENST00000380951.5_Silent_p.S103S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13464					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						CTGGAGTTCTCGAGGTTGCCA	0.493000													5	15					0	0	0.387290	0	0
PDSS2	57107	broad.mit.edu	37	6	107780313	107780313	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107780313G>A	ENST00000369037.4	-	1	454	c.177C>T	c.(175-177)atC>atT	p.I59I	PDSS2_ENST00000369031.4_Silent_p.I59I|PDSS2_ENST00000453874.2_Silent_p.I59I	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	59					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGTACCCCACGATCTTCTCCG	0.637000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					0	0	0.248553	0	0
MED23	9439	broad.mit.edu	37	6	131908944	131908944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:131908944G>A	ENST00000403834.3	-	29	4173	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.R1328C|MED23_ENST00000368068.3_Missense_Mutation_p.R1328C|MED23_ENST00000545957.1_Missense_Mutation_p.R969C|MED23_ENST00000354577.4_Missense_Mutation_p.R1334C|MED23_ENST00000368058.1_Missense_Mutation_p.R1334C			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1328					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATCGAAGACGAAGTTTTAAA	0.403000													3	20					0	0	0.115264	0	0
TOP2A	7153	broad.mit.edu	37	17	38563833	38563833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38563833G>A	ENST00000423485.1	-	13	1752	c.1594C>T	c.(1594-1596)Cgt>Tgt	p.R532C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	532					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCCCATAACGAAGCGTCTTC	0.294000													7	14					0	0	0.307466	0	0
ATP2B2	491	broad.mit.edu	37	3	10379906	10379906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:10379906C>T	ENST00000397077.1	-	21	3814	c.3239G>A	c.(3238-3240)cGg>cAg	p.R1080Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R1080Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R1125Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R1111Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R1125Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1125					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATCTGGCCCCGCCGCAGCTC	0.682000													12	233					0	0	0.457914	0	0
PADI3	51702	broad.mit.edu	37	1	17586130	17586130	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17586130C>T	ENST00000375460.3	+	2	190	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	50					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCGTGGACATCTACATCTCTC	0.592000													17	72					0	0	0.592651	0	0
TIMM44	10469	broad.mit.edu	37	19	7992547	7992547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7992547C>T	ENST00000270538.3	-	12	1502	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	412					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTCACCGGGTCACCCTCCACC	0.632000													20	157					0	0	0.681144	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394331	39394331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:39394331C>T	ENST00000254072.6	+	1	35	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	10	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACGTG	0.592000													22	133					0	0	0.667858	0	0
KIAA1045	23349	broad.mit.edu	37	9	34972478	34972478	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34972478G>A	ENST00000242315.3	+	3	596	c.514G>A	c.(514-516)Gag>Aag	p.E172K	KIAA1045_ENST00000544237.1_Missense_Mutation_p.E172K|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	172							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAGTGCAGCGGAGGTGACGGA	0.597000													14	96					0	0	0.557998	0	0
PTH2R	5746	broad.mit.edu	37	2	209358298	209358298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:209358298G>A	ENST00000272847.2	+	13	1780	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	523						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GCAGGGAGATGATATTCTAAT	0.493000													26	55					0	0	0.654019	0	0
FAM111B	374393	broad.mit.edu	37	11	58893519	58893519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58893519C>G	ENST00000343597.3	+	4	2140	c.1949C>G	c.(1948-1950)tCa>tGa	p.S650*	FAM111B_ENST00000529618.1_Nonsense_Mutation_p.S620*|FAM111B_ENST00000411426.1_Nonsense_Mutation_p.S620*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	650							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GATGGGTCCTCAGGCTCCCCA	0.398000													10	50					0	0	0.411799	0	0
CASP8	841	broad.mit.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202149751C>T	ENST00000358485.4	+	8	1388	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q339*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478000										HNSCC(4;0.00038)			38	109					0	0	0.853193	0	0
POLR3A	11128	broad.mit.edu	37	10	79750904	79750904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:79750904C>T	ENST00000372371.3	-	21	2946	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	937					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCAGGCTCACTGGGACAC	0.502000													30	22					0	0	0.788014	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560549	44560549	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:44560549A>T	ENST00000332567.4	-	1	1439	c.1087T>A	c.(1087-1089)Tcc>Acc	p.S363T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	363					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCAGAGAGGGAGCTCACGGAC	0.542000													9	88					0	0	0.335167	0	0
PSMD5	5711	broad.mit.edu	37	9	123593680	123593680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:123593680C>T	ENST00000210313.3	-	4	564	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	PSMD5_ENST00000373904.5_Intron|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGATTGCTTTCAAATAAAGCC	0.368000													15	77					0	0	0.500413	0	0
PRDM4	11108	broad.mit.edu	37	12	108145485	108145485	+	Missense_Mutation	SNP	T	T	A	rs148244009		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:108145485T>A	ENST00000228437.5	-	5	1292	c.833A>T	c.(832-834)aAt>aTt	p.N278I	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	278					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AGACATGCCATTGACCCGACT	0.557000													11	40					0	0	0.457914	0	0
ZNF644	84146	broad.mit.edu	37	1	91405439	91405439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:91405439C>T	ENST00000370440.1	-	3	1689	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G491E			Q9H582	ZN644_HUMAN	zinc finger protein 644	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCACTTCTTCCTTCATCCTG	0.388000													29	87					0	0	0.750413	0	0
COA1	55744	broad.mit.edu	37	7	43679188	43679188	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:43679188T>C	ENST00000395879.1	-	5	2115	c.434A>G	c.(433-435)aAg>aGg	p.K145R	COA1_ENST00000223336.6_Missense_Mutation_p.K145R|COA1_ENST00000310564.6_Missense_Mutation_p.K145R|COA1_ENST00000488813.1_5'UTR|COA1_ENST00000395880.3_Missense_Mutation_p.K145R					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TCTCTACTCCTTTTTCACTTC	0.517000													3	135					0	0	0.115264	0	0
ZNF749	388567	broad.mit.edu	37	19	57956341	57956341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:57956341G>A	ENST00000334181.4	+	3	2075	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCACACTGGAGAAAAGCCTTA	0.388000													7	57					0	0	0.335167	0	0
NME9	347736	broad.mit.edu	37	3	138024920	138024920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:138024920C>G	ENST00000383180.2	-	9	616	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	NME9_ENST00000333911.3_Missense_Mutation_p.E188Q|NME9_ENST00000484930.1_Missense_Mutation_p.E125Q|NME9_ENST00000317876.4_Missense_Mutation_p.E127Q|NME9_ENST00000341790.5_Missense_Mutation_p.E125Q|NME9_ENST00000536478.1_Missense_Mutation_p.E127Q	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	188					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTTAGAATTTCAAACCCAGCT	0.353000													11	66					0	0	0.411799	0	0
SRCAP	10847	broad.mit.edu	37	16	30749040	30749040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30749040C>G	ENST00000262518.4	+	34	8064	c.7679C>G	c.(7678-7680)tCt>tGt	p.S2560C	SRCAP_ENST00000344771.4_Missense_Mutation_p.S2402C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2498C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2560	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCATTGGCATCTCCAGAGTCC	0.562000													17	43					0	0	0.520397	0	0
ARID1A	8289	broad.mit.edu	37	1	27094291	27094291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27094291C>T	ENST00000324856.7	+	11	3370	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	ARID1A_ENST00000457599.2_Missense_Mutation_p.S1000F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S617F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1000	Poly-Ser.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S1000Y(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAATCCAGTTCTTCTACTACA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	26					0	0	0.387290	0	0
SNX14	57231	broad.mit.edu	37	6	86253327	86253327	+	Silent	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:86253327T>C	ENST00000314673.3	-	13	1436	c.1260A>G	c.(1258-1260)caA>caG	p.Q420Q	SNX14_ENST00000369627.2_Silent_p.Q420Q|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Silent_p.Q368Q|SNX14_ENST00000346348.3_Silent_p.Q376Q|SNX14_ENST00000513865.1_Silent_p.Q420Q	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	420	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTACTTCTTTGAATCTCTT	0.318000													3	8					0	0	0.115264	0	0
KPNA1	3836	broad.mit.edu	37	3	122152626	122152626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:122152626C>T	ENST00000344337.6	-	12	1308	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	378	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGGCATCTATCACAGTC	0.323000													5	31					0	0	0.217242	0	0
CDK18	5129	broad.mit.edu	37	1	205492648	205492648	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:205492648G>A	ENST00000360066.2	+	3	469	c.168G>A	c.(166-168)caG>caA	p.Q56Q	CDK18_ENST00000429964.2_Silent_p.Q56Q|CDK18_ENST00000506784.1_Silent_p.Q56Q|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	54							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACCCCCCGCAGGAGTGCAGCA	0.667000													3	19					0	0	0.150653	0	0
FUT3	2525	broad.mit.edu	37	19	5844334	5844334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5844334C>T	ENST00000303225.6	-	3	1151	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FUT3_ENST00000589620.1_Missense_Mutation_p.E173K|FUT3_ENST00000589918.1_Missense_Mutation_p.E173K|FUT3_ENST00000458379.2_Missense_Mutation_p.E173K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	173					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GACCACGGCTCCAGCCAGCCG	0.647000													14	28					0	0	0.557998	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971383	34971383	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971383G>C	ENST00000242315.3	+	2	170	c.88G>C	c.(88-90)Gac>Cac	p.D30H	KIAA1045_ENST00000544237.1_Missense_Mutation_p.D30H|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	30							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGGCTGCGGGACAGGCCTTC	0.617000													8	87					0	0	0.387290	0	0
CLEC1B	51266	broad.mit.edu	37	12	10145870	10145870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:10145870C>G	ENST00000428126.2	-	7	732	c.463G>C	c.(463-465)Gat>Cat	p.D155H	CLEC1B_ENST00000348658.4_Missense_Mutation_p.D155H|CLEC1B_ENST00000298527.6_Missense_Mutation_p.D188H			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	188	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCTTTTCCATCTTCCAAAAAC	0.358000													19	37					0	0	0.592651	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48596430	48596430	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:48596430C>A	ENST00000323776.5	+	6	1039	c.877C>A	c.(877-879)Cca>Aca	p.P293T	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P256T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	256					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTGCACACTTCCAACCCGGCG	0.617000													5	52					0.00198382	0.00204039	0.248553	1	0
MCM4	4173	broad.mit.edu	37	8	48874078	48874078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:48874078C>T	ENST00000262105.2	+	2	282	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	MCM4_ENST00000523944.1_Missense_Mutation_p.R25W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	25					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACACAAGCTCGGAGTGAGGA	0.547000													12	53					0	0	0.479597	0	0
DRAM2	128338	broad.mit.edu	37	1	111674048	111674048	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:111674048G>A	ENST00000286692.4	-	3	746	c.129C>T	c.(127-129)atC>atT	p.I43I	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Silent_p.I43I			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	43					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TCACTTACCTGATATAAGGTA	0.338000													16	69					0	0	0.557998	0	0
ZNF136	7695	broad.mit.edu	37	19	12296680	12296680	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12296680C>G	ENST00000343979.4	+	2	224	c.84C>G	c.(82-84)ctC>ctG	p.L28L	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	28	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AGAAGAATCTCTACAGAGATG	0.443000													23	41					0	0	0.717897	0	0
IGLV7-46	28775	broad.mit.edu	37	22	22724419	22724419	+	RNA	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:22724419T>A	ENST00000390295.2	+	0	349																											AGGATGAGGCTGAGTATTACT	0.567000													62	37					0	0	0.870114	0	0
PCDH17	27253	broad.mit.edu	37	13	58208645	58208645	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:58208645G>A	ENST00000377918.3	+	1	1991	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGAGGACGTGACGCCCGTGG	0.637000													61	107					0	0	0.870114	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855860	228855860	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228855860C>G	ENST00000392056.3	-	11	4861	c.4815G>C	c.(4813-4815)caG>caC	p.Q1605H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1576H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1605						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGCTCCTCTGGGGGCTGG	0.577000													12	36					0	0	0.411799	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181751	57181751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57181751G>A	ENST00000504228.1	+	6	2188	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	KIAA1211_ENST00000541073.1_Missense_Mutation_p.D688N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.D695N			Q6ZU35	K1211_HUMAN	KIAA1211	695										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGGCCCGGTGATGAGTCCAC	0.592000													22	97					0	0	0.706142	0	0
RB1	5925	broad.mit.edu	37	13	49039354	49039354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:49039354C>A	ENST00000267163.4	+	23	2477	c.2339C>A	c.(2338-2340)tCa>tAa	p.S780*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	780	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTACCTTGTCACCAATACCT	0.388000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			46	67					1.00798e-23	1.08629e-23	0.870114	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13765904	13765904	+	Nonsense_Mutation	SNP	G	G	T	rs147117631		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:13765904G>T	ENST00000378106.5	+	1	309	c.190G>T	c.(190-192)Gag>Tag	p.E64*	NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64*|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	64					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CCGGCAGCCCGAGCCGACCAA	0.632000													3	18					0.004672	0.00479611	0.115264	1	0
CDRT1	374286	broad.mit.edu	37	17	15522810	15522810	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:15522810G>C	ENST00000395906.3	-	1	16	c.17C>G	c.(16-18)tCa>tGa	p.S6*	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	6										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTTGAGCCTTGATTCCAGGTT	0.498000													110	219					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578239C>G	ENST00000420246.2	-	6	742	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	TP53_ENST00000445888.2_Missense_Mutation_p.E204Q|TP53_ENST00000359597.4_Missense_Mutation_p.E204Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.E204Q|TP53_ENST00000269305.4_Missense_Mutation_p.E204Q|TP53_ENST00000455263.2_Missense_Mutation_p.E204Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAATACTCCACACGCAAA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	39					0	0	0.667858	0	0
TLL2	7093	broad.mit.edu	37	10	98155024	98155024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155024G>T	ENST00000357947.3	-	13	1871	c.1646C>A	c.(1645-1647)tCg>tAg	p.S549*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	549	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGAGCTCGATTTCACATC	0.493000													24	40					1.87854e-15	2.00848e-15	0.870114	1	0
ALS2CR12	130540	broad.mit.edu	37	2	202164015	202164015	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202164015C>G	ENST00000405148.2	-	12	1331	c.888G>C	c.(886-888)ttG>ttC	p.L296F	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.L296F|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.L296F|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.L296F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	296					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATGTTGTTTCAAGAGCTCCT	0.378000													23	66					0	0	0.667858	0	0
PPP4R4	57718	broad.mit.edu	37	14	94693666	94693666	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:94693666C>T	ENST00000328839.3	+	4	466	c.338C>T	c.(337-339)tCa>tTa	p.S113L	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000304338.3_Intron	NM_020958.2	NP_066009.2	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	0						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTATGGATCTCACATATGTTT	0.378000													21	57					0	0	0.667858	0	0
PALLD	23022	broad.mit.edu	37	4	169433557	169433557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:169433557G>A	ENST00000261509.6	+	2	1113	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	PALLD_ENST00000505667.1_Missense_Mutation_p.R301Q|PALLD_ENST00000333488.4_Missense_Mutation_p.R178Q|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	301	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCACTCCTCGAGTCAGGTAT	0.443000									Pancreatic Cancer, Familial Clustering of				12	20					0	0	0.411799	0	0
ZNF880	400713	broad.mit.edu	37	19	52887440	52887440	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:52887440C>G	ENST00000422689.2	+	4	622	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	203					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCTAACAATCAAGTAATCCA	0.373000													6	16					0	0	0.217242	0	0
MYH11	4629	broad.mit.edu	37	16	15809038	15809038	+	Missense_Mutation	SNP	C	C	T	rs148743922	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:15809038C>T	ENST00000452625.2	-	40	5704	c.5617G>A	c.(5617-5619)Gag>Aag	p.E1873K	MYH11_ENST00000576790.2_Missense_Mutation_p.E1866K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1873K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1866K|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1866					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGTACTGCTCGGCCATCTTG	0.622000			T	CBFB	AML								13	97					0	0	0.479597	0	0
ZNF594	84622	broad.mit.edu	37	17	5086808	5086808	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:5086808G>T	ENST00000399604.4	-	1	884	c.744C>A	c.(742-744)ttC>ttA	p.F248L	ZNF594_ENST00000575779.1_Missense_Mutation_p.F248L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTTTGACTGAAAGCCTTCC	0.428000													72	84					8.87156e-34	9.61826e-34	0.870114	1	0
EIF4E2	9470	broad.mit.edu	37	2	233431865	233431865	+	Silent	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:233431865A>G	ENST00000409514.1	+	6	648	c.606A>G	c.(604-606)cgA>cgG	p.R202R	EIF4E2_ENST00000258416.3_Silent_p.R202R|EIF4E2_ENST00000409322.1_Silent_p.R157R|EIF4E2_ENST00000409394.1_Silent_p.R157R|EIF4E2_ENST00000409098.1_Silent_p.R202R|EIF4E2_ENST00000409495.1_Silent_p.R202R|EIF4E2_ENST00000409167.3_Silent_p.R157R	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	202					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACTTCGGCGAGTGCTTAACC	0.488000													49	146					0	0	0.870114	0	0
PARD3B	117583	broad.mit.edu	37	2	206023472	206023472	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023472C>G	ENST00000406610.2	+	11	1668	c.1461C>G	c.(1459-1461)ctC>ctG	p.L487L	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.L487L|PARD3B_ENST00000462231.1_Silent_p.L487L|PARD3B_ENST00000351153.1_Silent_p.L487L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	487					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTGTGCACTCTCTCTGGAGA	0.463000													32	113					0	0	0.796494	0	0
YLPM1	56252	broad.mit.edu	37	14	75230697	75230697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:75230697C>T	ENST00000325680.7	+	1	629	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q169*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q169*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	19	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCCCACCTCAGCCGCCACC	0.622000													9	17					0	0	0.307466	0	0
COL1A2	1278	broad.mit.edu	37	7	94058695	94058695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94058695G>A	ENST00000297268.6	+	51	4378	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1303	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTGTTGCTGAGGGCAACAG	0.458000										HNSCC(75;0.22)			14	50					0	0	0.520397	0	0
FAM135B	51059	broad.mit.edu	37	8	139164734	139164734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139164734G>A	ENST00000395297.1	-	13	2154	c.1984C>T	c.(1984-1986)Cac>Tac	p.H662Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	662										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTCTGTGTGAGAGTCCTTT	0.502000										HNSCC(54;0.14)			24	63					0	0	0.706142	0	0
TOPBP1	11073	broad.mit.edu	37	3	133374177	133374177	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133374177C>T	ENST00000260810.5	-	6	830	c.699G>A	c.(697-699)ttG>ttA	p.L233L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	233	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CATTCATTTTCAATTGTCCCA	0.363000								Other conserved DNA damage response genes					34	77					0	0	0.827153	0	0
ABCD3	5825	broad.mit.edu	37	1	94953293	94953293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953293C>G	ENST00000370214.4	+	12	1035	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.F264L|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.F361L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	337	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GTCGCCCTTTCTTAGATTTGT	0.363000													18	85					0	0	0.760397	0	0
ZNF599	148103	broad.mit.edu	37	19	35250830	35250830	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:35250830G>A	ENST00000329285.8	-	4	1249	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCGGTGGGTGAATGCTTTGC	0.453000													42	96					0	0	0.864702	0	0
TTC3	7267	broad.mit.edu	37	21	38568048	38568048	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:38568048A>T	ENST00000399017.2	+	42	8037	c.5290A>T	c.(5290-5292)Act>Tct	p.T1764S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.T1764S|TTC3_ENST00000354749.2_Missense_Mutation_p.T1764S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1764					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGCGACGTGACTGGAAACCA	0.587000													18	105					0	0	0.557998	0	0
SHC3	53358	broad.mit.edu	37	9	91667005	91667005	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:91667005G>C	ENST00000375835.4	-	7	1215	c.909C>G	c.(907-909)ctC>ctG	p.L303L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	303	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTAAACCGGAGCTCAAAGG	0.488000													7	73					0	0	0.248553	0	0
ABCC1	4363	broad.mit.edu	37	16	16110412	16110412	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16110412C>T	ENST00000399408.2	+	5	724	c.549C>T	c.(547-549)ctC>ctT	p.L183L	ABCC1_ENST00000345148.5_Silent_p.L183L|ABCC1_ENST00000351154.5_Silent_p.L183L|ABCC1_ENST00000346370.5_Silent_p.L183L|ABCC1_ENST00000349029.5_Silent_p.L183L|ABCC1_ENST00000399410.3_Silent_p.L183L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	183					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCCTCTTACTCATTCAGCTCG	0.493000													53	276					0	0	0.870114	0	0
SPATS2L	26010	broad.mit.edu	37	2	201305422	201305422	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:201305422C>T	ENST00000358677.5	+	8	950	c.703C>T	c.(703-705)Cta>Tta	p.L235L	SPATS2L_ENST00000409755.3_Silent_p.L265L|SPATS2L_ENST00000409385.1_Silent_p.L175L|SPATS2L_ENST00000409151.1_Silent_p.L243L|SPATS2L_ENST00000409140.3_Silent_p.L235L|SPATS2L_ENST00000409718.1_Silent_p.L235L|SPATS2L_ENST00000451764.2_Silent_p.L235L|SPATS2L_ENST00000409988.3_Silent_p.L235L|SPATS2L_ENST00000360760.5_Silent_p.L166L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CACCGTTTCTCTAACTAGATA	0.373000													21	38					0	0	0.592651	0	0
RNF19A	25897	broad.mit.edu	37	8	101270981	101270981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101270981G>A	ENST00000519449.1	-	11	2636	c.2320C>T	c.(2320-2322)Cag>Tag	p.Q774*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.Q774*	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	774	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATGCTACACTGATGTGGGGAA	0.398000													28	64					0	0	0.717897	0	0
ASAP2	8853	broad.mit.edu	37	2	9484706	9484706	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:9484706C>A	ENST00000281419.3	+	10	1235	c.895C>A	c.(895-897)Cag>Aag	p.Q299K	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q299K	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	299					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACATCAGCCTCAGGGAAACAA	0.458000													24	66					2.2171e-23	2.3846e-23	0.740014	1	0
TP53	7157	broad.mit.edu	37	17	7578488	7578488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578488C>T	ENST00000420246.2	-	5	574	c.442G>A	c.(442-444)Gat>Aat	p.D148N	TP53_ENST00000445888.2_Missense_Mutation_p.D148N|TP53_ENST00000359597.4_Missense_Mutation_p.D148N|TP53_ENST00000413465.2_Missense_Mutation_p.D148N|TP53_ENST00000269305.4_Missense_Mutation_p.D148N|TP53_ENST00000455263.2_Missense_Mutation_p.D148N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	148	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.D148N(4)|p.D148fs*23(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.D148Y(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.D148fs*34(1)|p.D148fs*22(1)|p.D148fs*32(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGTGGAATCAACCCACAGC	0.602000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	32					0	0	0.827153	0	0
EPG5	57724	broad.mit.edu	37	18	43496060	43496060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:43496060G>A	ENST00000282041.5	-	19	3530	c.3496C>T	c.(3496-3498)Ctc>Ttc	p.L1166F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1166					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGAGGAAGAGGATAGGTTGT	0.468000													6	72					0	0	0.248553	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325218	77325218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77325218G>C	ENST00000282849.5	-	21	3765	c.3347C>G	c.(3346-3348)cCa>cGa	p.P1116R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1116	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGATGGGCTGGGCAAGCCCG	0.512000													17	87					0	0	0.557998	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190738	104190738	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:104190738G>A	ENST00000392876.3	-	6	727	c.687C>T	c.(685-687)tgC>tgT	p.C229C	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	229							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATTCATTCACGCAGGACAGGA	0.478000													20	103					0	0	0.592651	0	0
APLNR	187	broad.mit.edu	37	11	57003561	57003561	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:57003561G>A	ENST00000606794.1	-	1	1114	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	306						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATAGAGGAAGGGGTTGAGGC	0.607000													8	44					0	0	0.335167	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732208	37732208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:37732208G>A	ENST00000330843.4	-	3	1459	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L483F|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L335F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L335F	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	483					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCTCACAAGGTCTTCAGCA	0.552000													6	158					0	0	0.217242	0	0
PLCH2	9651	broad.mit.edu	37	1	2420790	2420790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:2420790G>T	ENST00000449969.1	+	9	1460	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H	PLCH2_ENST00000419816.2_Missense_Mutation_p.Q460H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.Q460H|PLCH2_ENST00000378486.3_Missense_Mutation_p.Q460H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	460	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTCTCCACAGATGCTCAAGG	0.582000													11	65					2.80697e-09	2.96018e-09	0.387290	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777151	18777151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:18777151G>A	ENST00000380548.4	+	19	3263	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	975						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGAGCCCGAGAAGTGAGGAA	0.652000													5	40					0	0	0.217242	0	0
KMT2D	8085	broad.mit.edu	37	12	49434740	49434740	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:49434740G>T	ENST00000301067.7	-	31	6812	c.6813C>A	c.(6811-6813)ccC>ccA	p.P2271P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGAGAGCAGGGGCTCGGAAG	0.632000													7	38					3.86212e-05	4.00269e-05	0.361761	1	0
ZDHHC14	79683	broad.mit.edu	37	6	157803263	157803263	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157803263C>T	ENST00000359775.5	+	1	1099	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZDHHC14_ENST00000414563.2_Silent_p.L70L			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	70						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCTCGTCCTCATCCTGGTCA	0.627000													12	59					0	0	0.435327	0	0
ETNK1	55500	broad.mit.edu	37	12	22797221	22797221	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:22797221C>T	ENST00000335148.3	+	3	783	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	ETNK1_ENST00000266517.4_Intron	NM_001039481.1	NP_001034570.1	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	0				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAAGGCTTCTGCTTAGTTT	0.343000													8	30					0	0	0.361761	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677474	37677474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:37677474C>G	ENST00000532828.2	-	5	1216	c.965G>C	c.(964-966)aGa>aCa	p.R322T	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R267T|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGCTTCACTCTTGTGTGAAC	0.378000													30	130					0	0	0.788014	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783250	1783250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:1783250C>T	ENST00000539485.1	-	29	3943	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1190D|ATP8B3_ENST00000310127.6_Missense_Mutation_p.G1227D			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1227					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		CTCGCTGGGGCCCTCCTCCAC	0.592000													3	5					0	0	0.150653	0	0
PADI3	51702	broad.mit.edu	37	1	17592186	17592186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17592186G>A	ENST00000375460.3	+	4	419	c.379G>A	c.(379-381)Gga>Aga	p.G127R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAACTGTGAGGGAAGGCAGGA	0.547000													11	120					0	0	0.457914	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444498	26444498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444498C>G	ENST00000244519.2	+	4	642	c.399C>G	c.(397-399)ttC>ttG	p.F133L	BTN3A3_ENST00000339789.4_Missense_Mutation_p.F91L|BTN3A3_ENST00000361232.3_Missense_Mutation_p.F91L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	133	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATGGTGACTTCTACGAAAAAG	0.507000													37	97					0	0	0.834066	0	0
FAP	2191	broad.mit.edu	37	2	163030297	163030297	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:163030297G>A	ENST00000188790.4	-	23	2177	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	FAP_ENST00000443424.1_Splice_Site_p.A632V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	657					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTAGACAGACGCTATAAAATA	0.318000													40	130					0	0	0.870114	0	0
NLRP2	55655	broad.mit.edu	37	19	55508805	55508805	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55508805G>C	ENST00000543010.1	+	12	3143	c.3000G>C	c.(2998-3000)aaG>aaC	p.K1000N	NLRP2_ENST00000427260.2_Missense_Mutation_p.K977N|NLRP2_ENST00000538819.1_Missense_Mutation_p.K976N|NLRP2_ENST00000339757.7_Missense_Mutation_p.K978N|NLRP2_ENST00000391721.4_Missense_Mutation_p.K976N|NLRP2_ENST00000448584.2_Missense_Mutation_p.K1000N|NLRP2_ENST00000263437.6_Missense_Mutation_p.K997N|NLRP2_ENST00000537859.1_Missense_Mutation_p.K978N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1000					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGGAGTGAAGATGCTGTTTG	0.527000													24	133					0	0	0.729181	0	0
IL21	59067	broad.mit.edu	37	4	123542141	123542141	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:123542141T>A	ENST00000264497.3	-	1	83	c.26A>T	c.(25-27)gAg>gTg	p.E9V	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	2					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GACAATCCTCTCCATGTTGCC	0.463000													14	95					0	0	0.520397	0	0
CC2D2A	57545	broad.mit.edu	37	4	15601285	15601285	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:15601285G>C	ENST00000424120.1	+	36	4884	c.4630G>C	c.(4630-4632)Gat>Cat	p.D1544H	CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1544H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1544H|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1436H			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1544					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGATGTAGAAGATGACCACAG	0.443000													16	22					0	0	0.520397	0	0
FOSB	2354	broad.mit.edu	37	19	45975962	45975962	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45975962G>A	ENST00000353609.3	+	4	1301	c.709G>A	c.(709-711)Gag>Aag	p.E237K	ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.E162K|FOSB_ENST00000592811.1_Missense_Mutation_p.E188K|FOSB_ENST00000586615.1_Missense_Mutation_p.E188K|FOSB_ENST00000592436.1_Missense_Mutation_p.E237K|FOSB_ENST00000417353.2_Missense_Mutation_p.E201K|FOSB_ENST00000443841.2_Missense_Mutation_p.E94K|FOSB_ENST00000591858.1_Missense_Mutation_p.E198K	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	237					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCCGCTGGCGGAGGTGAGAGA	0.667000													9	22					0	0	0.361761	0	0
MMP21	118856	broad.mit.edu	37	10	127455472	127455472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:127455472G>C	ENST00000368808.3	-	7	1468	c.1469C>G	c.(1468-1470)aCt>aGt	p.T490S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	490	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAAACTTCAGTAATCCTCTT	0.333000													7	31					0	0	0.248553	0	0
FAR1	84188	broad.mit.edu	37	11	13732293	13732293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732293G>A	ENST00000354817.3	+	5	743	c.599G>A	c.(598-600)aGa>aAa	p.R200K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	200					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATAGGAGACAGACCTAATACA	0.348000													17	173					0	0	0.557998	0	0
RP11-447L10.1	0	broad.mit.edu	37	3	196044975	196044975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:196044975C>T	ENST00000431391.1	-	1	118	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TCTEX1D2_ENST00000325318.5_Missense_Mutation_p.E17K|TM4SF19_ENST00000442633.1_Intron						17																	TTCTCAGCCTCAGGCACCCCG	0.662000													3	10					0	0	0.150653	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517000													15	45					0	0	0.500413	0	0
PPL	5493	broad.mit.edu	37	16	4934725	4934725	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934725G>A	ENST00000345988.2	-	22	4020	c.3931C>T	c.(3931-3933)Ctg>Ttg	p.L1311L	PPL_ENST00000590782.2_Silent_p.L1309L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1311					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTGCCCTCAGAGACGCCACC	0.557000													24	92					0	0	0.706142	0	0
RNF217	154214	broad.mit.edu	37	6	125284040	125284040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:125284040G>A	ENST00000521654.2	+	1	350	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GCTGGGGATCGAAAAGAGGGA	0.687000													10	31					0	0	0.361761	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:41622139G>A	ENST00000331105.2	+	2	118	c.46G>A	c.(46-48)Gtc>Atc	p.V16I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	16					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577000													15	121					0	0	0.539581	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634657	51634657	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51634657C>T	ENST00000412716.3	+	3	751	c.135C>T	c.(133-135)ctC>ctT	p.L45L	DAZAP2_ENST00000549555.1_Silent_p.L45L|DAZAP2_ENST00000425012.2_Silent_p.L45L|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000604900.1_Silent_p.L45L|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Silent_p.L45L|DAZAP2_ENST00000551534.1_3'UTR			Q15038	DAZP2_HUMAN	DAZ associated protein 2	45	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						TCTTCTAGCTCTATCGTCCGA	0.473000													17	71					0	0	0.608945	0	0
RPL11	6135	broad.mit.edu	37	1	24019138	24019138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24019138C>T	ENST00000374550.3	+	2	91	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	16					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCGGGAACTTCGCATCCGCAA	0.547000													52	125					0	0	0.870114	0	0
UBN1	29855	broad.mit.edu	37	16	4924307	4924307	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924307G>C	ENST00000396658.4	+	14	2599	c.1896G>C	c.(1894-1896)ctG>ctC	p.L632L	UBN1_ENST00000262376.6_Silent_p.L632L|UBN1_ENST00000590769.1_Silent_p.L632L|UBN1_ENST00000545171.1_Silent_p.L632L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	632					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CAGGAGGCCTGAGTATTGGGG	0.542000													21	98					0	0	0.654019	0	0
GPA33	10223	broad.mit.edu	37	1	167059489	167059489	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:167059489G>C	ENST00000367868.3	-	1	379	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	12						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACCTGCACAGAGTGTCCACA	0.582000													11	33					0	0	0.435327	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027682	92027682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:92027682G>C	ENST00000265742.3	+	20	3065	c.2689G>C	c.(2689-2691)Gac>Cac	p.D897H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	897							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCAGGCTGGACTCTGTCCC	0.507000													3	12					0	0	0.115264	0	0
PARP1	142	broad.mit.edu	37	1	226595555	226595555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:226595555C>G	ENST00000366794.5	-	1	219	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	PARP1_ENST00000366792.1_Missense_Mutation_p.E26Q|PARP1_ENST00000366791.5_Missense_Mutation_p.E26Q|PARP1_ENST00000366790.3_Missense_Mutation_p.E26Q	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	26					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGATGCTCTCGCTGCATTTC	0.667000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	17					0	0	0.115264	0	0
INTS8	55656	broad.mit.edu	37	8	95885644	95885644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95885644C>T	ENST00000523731.1	+	22	2709	c.2576C>T	c.(2575-2577)gCa>gTa	p.A859V	INTS8_ENST00000447247.1_Missense_Mutation_p.A859V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	859					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTCCAGGCAGGAGCTGTG	0.448000													97	251					0	0	0.870114	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:47572355C>T	ENST00000253048.5	-	14	2429	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677000													39	107					0	0	0.834066	0	0
GABRG1	2565	broad.mit.edu	37	4	46060594	46060594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:46060594G>A	ENST00000295452.4	-	6	838	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	224					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CACTTCTACGGAGGGCTTTTT	0.358000													5	27					0	0	0.217242	0	0
TENC1	23371	broad.mit.edu	37	12	53444019	53444019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:53444019G>A	ENST00000314250.6	+	1	340	c.50G>A	c.(49-51)aGg>aAg	p.R17K	TENC1_ENST00000552570.1_Missense_Mutation_p.R17K|TENC1_ENST00000451358.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000379902.3_Intron|TENC1_ENST00000314276.3_Intron|TENC1_ENST00000549700.1_Missense_Mutation_p.R17K|TENC1_ENST00000546602.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000550601.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	17					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGGGGAGGAGGGACAGCAGC	0.692000													4	11					0	0	0.184627	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793406	11793406	+	RNA	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:11793406G>T	ENST00000344893.3	+	0	1608					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CACCCAGGAGGAGTGGGCTTT	0.498000													38	83					4.07013e-28	4.40388e-28	0.840704	1	0
FKBP9	11328	broad.mit.edu	37	7	33044890	33044890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:33044890G>A	ENST00000242209.4	+	10	1809	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	FKBP9_ENST00000490776.2_Missense_Mutation_p.R315Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.R600Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.R409Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	547	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AACCAGGACCGGAATGGAGAT	0.502000													15	78					0	0	0.592651	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754876	94754876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:94754876C>G	ENST00000554723.1	-	3	1277	c.859G>C	c.(859-861)Gac>Cac	p.D287H	SERPINA10_ENST00000261994.4_Missense_Mutation_p.D247H|SERPINA10_ENST00000554173.1_Missense_Mutation_p.D247H|SERPINA10_ENST00000393096.1_Missense_Mutation_p.D247H			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	247					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGACAGGGTCAAATGGGGTC	0.453000													25	83					0	0	0.717897	0	0
PTCH1	5727	broad.mit.edu	37	9	98229398	98229398	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:98229398C>T	ENST00000430669.2	-	15	2947	c.2362G>A	c.(2362-2364)Gga>Aga	p.G788R	PTCH1_ENST00000375274.2_Splice_Site_p.G853R|PTCH1_ENST00000421141.1_Splice_Site_p.G703R|PTCH1_ENST00000437951.1_Splice_Site_p.G788R|PTCH1_ENST00000418258.1_Splice_Site_p.G703R|PTCH1_ENST00000429896.2_Splice_Site_p.G703R|PTCH1_ENST00000331920.6_Splice_Site_p.G854R			Q13635	PTC1_HUMAN	patched 1	854					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G854*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCGTCTTACCCTGAAGCCAG	0.458000													5	33					0	0	0.184627	0	0
PIGG	54872	broad.mit.edu	37	4	499705	499705	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:499705G>C	ENST00000453061.2	+	3	665	c.559G>C	c.(559-561)Gat>Cat	p.D187H	PIGG_ENST00000296306.7_Missense_Mutation_p.D98H|PIGG_ENST00000503111.1_Missense_Mutation_p.D98H|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000536264.1_Missense_Mutation_p.D65H|PIGG_ENST00000509768.1_Missense_Mutation_p.D98H|PIGG_ENST00000504346.1_Missense_Mutation_p.D98H|PIGG_ENST00000310340.5_Missense_Mutation_p.D187H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	187					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTCGTGTCAGATTACACAGA	0.338000													5	29					0	0	0.184627	0	0
LRRK2	120892	broad.mit.edu	37	12	40637439	40637439	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:40637439G>A	ENST00000298910.7	+	7	852	c.794G>A	c.(793-795)aGa>aAa	p.R265K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R265K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	265					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGTGAAAGAATTCAAGAA	0.353000													16	103					0	0	0.500413	0	0
CYP4F2	8529	broad.mit.edu	37	19	16001219	16001219	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:16001219C>G	ENST00000221700.6	-	6	645	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E35Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACTACCCTCTGAGGCCAGG	0.542000													19	75					0	0	0.639603	0	0
KIF17	57576	broad.mit.edu	37	1	21014070	21014070	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:21014070C>G	ENST00000247986.2	-	8	2059	c.1749G>C	c.(1747-1749)caG>caC	p.Q583H	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.Q483H|KIF17_ENST00000400463.3_Missense_Mutation_p.Q583H			Q9P2E2	KIF17_HUMAN	kinesin family member 17	583					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGCGGCCTCCTGCCCGAGGC	0.652000													6	19					0	0	0.307466	0	0
TNKS	8658	broad.mit.edu	37	8	9413865	9413865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:9413865C>T	ENST00000310430.6	+	1	442	c.416C>T	c.(415-417)tCa>tTa	p.S139L	RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_Missense_Mutation_p.S139L|TNKS_ENST00000520408.1_Missense_Mutation_p.S139L	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	139	Poly-Ser.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACTTCTTCCTCATCTTCCTCT	0.632000													50	86					0	0	0.870114	0	0
CCL1	6346	broad.mit.edu	37	17	32688819	32688819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688819G>C	ENST00000225842.3	-	2	242	c.173C>G	c.(172-174)tCc>tGc	p.S58C		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	58					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCTCATTGGAGCAGATGGA	0.483000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	128					0	0	0.870114	0	0
SRP72	6731	broad.mit.edu	37	4	57367868	57367868	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57367868G>C	ENST00000342756.5	+	19	2578	c.1857G>C	c.(1855-1857)gtG>gtC	p.V619V	SRP72_ENST00000510663.1_Silent_p.V558V	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	619					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTAAAACTGTGAGCAGCCCAC	0.453000													5	36					0	0	0.184627	0	0
DNAI2	64446	broad.mit.edu	37	17	72281227	72281227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:72281227G>C	ENST00000579490.1	+	2	538	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	DNAI2_ENST00000582036.1_Missense_Mutation_p.E78Q|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Missense_Mutation_p.E78Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.E78Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	78					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TAACCATGTCGAGGGGGGCTG	0.562000									Kartagener syndrome				5	68					0	0	0.278610	0	0
ELOVL5	60481	broad.mit.edu	37	6	53138102	53138102	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:53138102G>A	ENST00000542638.1	-	6	984	c.537C>T	c.(535-537)ctC>ctT	p.L179L	ELOVL5_ENST00000304434.6_Silent_p.L179L|ELOVL5_ENST00000541407.1_Silent_p.L206L|ELOVL5_ENST00000370918.4_Silent_p.L169L			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	179				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).	fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AAGAGTACATGAGGACGTGGA	0.473000													50	101					0	0	0.870114	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005479	30005479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30005479C>T	ENST00000279392.3	-	4	1817	c.987G>A	c.(985-987)ttG>ttA	p.L329L	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	329					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGCTTCCACTCAACCTCTTCC	0.572000													27	80					0	0	0.740014	0	0
GAREM	64762	broad.mit.edu	37	18	30050350	30050350	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:30050350C>T	ENST00000399218.4	-	1	97	c.42G>A	c.(40-42)gtG>gtA	p.V14V	GAREM_ENST00000269209.6_Silent_p.V14V	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGCTCCACTTCACATCCTTGA	0.731000													6	33					0	0	0.335167	0	0
EPHB2	2048	broad.mit.edu	37	1	23107946	23107946	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:23107946G>A	ENST00000400191.3	+	2	112	c.94G>A	c.(94-96)Gag>Aag	p.E32K	EPHB2_ENST00000374630.3_Missense_Mutation_p.E32K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E26K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E32K|EPHB2_ENST00000544305.1_Missense_Mutation_p.E32K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	32					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGCGACTGCTGAGCTGGGCTG	0.602000													24	44					0	0	0.729181	0	0
PDCL3	79031	broad.mit.edu	37	2	101188178	101188178	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:101188178G>A	ENST00000264254.6	+	5	873	c.495G>A	c.(493-495)acG>acA	p.T165T		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	165					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						ATCTGCCCACGATATTTGTTT	0.458000													34	236					0	0	0.804634	0	0
MYH7	4625	broad.mit.edu	37	14	23886487	23886487	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:23886487G>A	ENST00000355349.3	-	32	4556	c.4394C>T	c.(4393-4395)tCg>tTg	p.S1465L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1465					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCAGCTCCGACTGCGACTC	0.602000													23	64					0	0	0.654019	0	0
POLDIP3	84271	broad.mit.edu	37	22	42998059	42998059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:42998059G>A	ENST00000252115.5	-	3	558	c.454C>T	c.(454-456)Cca>Tca	p.P152S	POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	152					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCTGCTGTGGAACCTGGAAA	0.507000													44	71					0	0	0.870114	0	0
TMC1	117531	broad.mit.edu	37	9	75366836	75366836	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:75366836C>T	ENST00000297784.5	+	11	1146	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TMC1_ENST00000396237.3_Silent_p.L202L|TMC1_ENST00000340019.3_Silent_p.L202L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	202					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATATGGTTCTCTTTATCCTGA	0.373000													59	82					0	0	0.870114	0	0
LRRC31	79782	broad.mit.edu	37	3	169557820	169557820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:169557820C>G	ENST00000316428.5	-	9	1666	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.D481H	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	537										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTATCTTGGTCAAAGCATTCT	0.403000													20	51					0	0	0.608945	0	0
TCHH	7062	broad.mit.edu	37	1	152080083	152080083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:152080083C>G	ENST00000368804.1	-	2	5609	c.5610G>C	c.(5608-5610)caG>caC	p.Q1870H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1870	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGACGTTTCTGCTCCTCTT	0.582000													34	75					0	0	0.788014	0	0
SLC9A8	23315	broad.mit.edu	37	20	48500483	48500483	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:48500483C>T	ENST00000417961.1	+	14	1629	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	SLC9A8_ENST00000361573.2_Silent_p.L457L|SLC9A8_ENST00000539601.1_Silent_p.L238L|SLC9A8_ENST00000541138.1_Silent_p.L157L	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	457						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCATCGTGCTCTTCACCATCC	0.632000													26	120					0	0	0.706142	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174615	150174615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:150174615C>T	ENST00000307271.3	+	5	2319	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	582						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGAAGAACTCAGATAACAAA	0.483000													27	85					0	0	0.740014	0	0
OR6C3	254786	broad.mit.edu	37	12	55725670	55725670	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55725670C>T	ENST00000379667.1	+	1	186	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCCTCCGGAACTTCTCTTTCT	0.403000													21	91					0	0	0.624587	0	0
ZNF738	148203	broad.mit.edu	37	19	21558079	21558079	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:21558079C>G	ENST00000311015.3	+	3	347	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	ZNF738_ENST00000380870.4_Missense_Mutation_p.Q46E|ZNF738_ENST00000597810.1_Missense_Mutation_p.Q46E																kidney(1)|lung(1)	2						AGAATTCTCTCAGGAGGAGTG	0.428000													31	82					0	0	0.812448	0	0
KCNG4	93107	broad.mit.edu	37	16	84256463	84256463	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84256463T>C	ENST00000308251.4	-	3	988	c.920A>G	c.(919-921)tAc>tGc	p.Y307C		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	307						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGCGACACGTAGTATGGGGA	0.637000													4	15					0	0	0.184627	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373716	81373716	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:81373716C>T	ENST00000398636.3	+	6	732	c.594C>T	c.(592-594)ttC>ttT	p.F198F	SFTPA1_ENST00000419470.2_Silent_p.F213F|SFTPA1_ENST00000428376.2_Silent_p.F198F|SFTPA1_ENST00000372313.5_Silent_p.F139F|SFTPA1_ENST00000372308.3_Silent_p.F198F	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	198	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTGGAGACTTCCGCTACTCAG	0.547000													82	94					0	0	0.870114	0	0
ERBB3	2065	broad.mit.edu	37	12	56480410	56480410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56480410G>A	ENST00000267101.3	+	4	957	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ERBB3_ENST00000415288.2_Missense_Mutation_p.E114K|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	173					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCGAGATGCTGAGATAGTGGT	0.493000													44	102					0	0	0.870114	0	0
IGDCC4	57722	broad.mit.edu	37	15	65681731	65681731	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:65681731G>T	ENST00000352385.2	-	14	2636	c.2427C>A	c.(2425-2427)ctC>ctA	p.L809L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	809	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGCCGCCAATGAGGATGTCTT	0.562000													7	51					0.000274275	0.000282634	0.307466	1	0
COL4A2	1284	broad.mit.edu	37	13	111155524	111155524	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:111155524G>T	ENST00000360467.5	+	42	4240	c.3934G>T	c.(3934-3936)Gac>Tac	p.D1312Y	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1312	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAGCAAAGGTGACACAGGGAA	0.622000													6	44					0.248553	0.250404	0.248553	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	67					0	0	0.115264	0	0
COL13A1	1305	broad.mit.edu	37	10	71716780	71716780	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71716780C>G	ENST00000356340.3	+	38	2669	c.2133C>G	c.(2131-2133)gtC>gtG	p.V711V	COL13A1_ENST00000398969.3_Silent_p.V639V|COL13A1_ENST00000398971.3_Silent_p.V696V|COL13A1_ENST00000398972.3_Silent_p.V697V|COL13A1_ENST00000520267.1_Silent_p.V639V|COL13A1_ENST00000398978.3_Silent_p.V711V|COL13A1_ENST00000398966.3_Silent_p.V689V|COL13A1_ENST00000398974.3_Silent_p.V699V|COL13A1_ENST00000354547.3_Silent_p.V689V|COL13A1_ENST00000520133.1_Silent_p.V604V|COL13A1_ENST00000398968.3_Silent_p.V692V|COL13A1_ENST00000522165.1_Silent_p.V680V|COL13A1_ENST00000398964.3_Silent_p.V682V|COL13A1_ENST00000398973.3_Silent_p.V685V|COL13A1_ENST00000357811.3_Silent_p.V677V|COL13A1_ENST00000517713.1_Silent_p.V662V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	0	Nonhelical region 4 (NC4).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCTTACCAGTCCAAGGCTGCT	0.552000													22	38					0	0	0.717897	0	0
SCP2	6342	broad.mit.edu	37	1	53416446	53416446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:53416446G>C	ENST00000371514.3	+	4	387	c.219G>C	c.(217-219)caG>caC	p.Q73H	SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.Q49H|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	73					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCTGTGGGCAGAGGGCTATCT	0.378000													28	66					0	0	0.729181	0	0
TOR2A	27433	broad.mit.edu	37	9	130496590	130496590	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:130496590G>A	ENST00000373281.5	-	2	428	c.405C>T	c.(403-405)atC>atT	p.I135I	TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373284.5_Silent_p.I135I|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000336067.6_Silent_p.I135I	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	135					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						TGTAGCGCTCGATGTGGCTGG	0.642000											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	36					0	0	0.592651	0	0
PPL	5493	broad.mit.edu	37	16	4934737	4934737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934737C>A	ENST00000345988.2	-	22	4008	c.3919G>T	c.(3919-3921)Gag>Tag	p.E1307*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E1305*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1307					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GACGCCACCTCCTCCTTGGTT	0.537000													18	86					6.94344e-10	7.35108e-10	0.539581	1	0
OR52B4	143496	broad.mit.edu	37	11	4388659	4388659	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:4388659C>T	ENST00000408920.2	-	1	957	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATGGGATTCAGCATAGGTG	0.418000													12	38					0	0	0.435327	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752620	62752620	+	RNA	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:62752620G>T	ENST00000331425.6	-	0	815					NR_003952.1																						AGTAAGTGCTGAGGAGCGCCT	0.468000													6	51					7.48243e-07	7.81466e-07	0.335167	1	0
E2F3	1871	broad.mit.edu	37	6	20490417	20490417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:20490417C>G	ENST00000346618.3	+	7	1220	c.1154C>G	c.(1153-1155)tCa>tGa	p.S385*	E2F3_ENST00000535432.1_Nonsense_Mutation_p.S254*	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	385					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCAACCAACTCAGGACATAGC	0.398000													15	97					0	0	0.557998	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857613	101857613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:101857613G>A	ENST00000604957.1	+	1	3166	c.544G>A	c.(544-546)Gta>Ata	p.V182I	ARMCX5_ENST00000537008.1_Missense_Mutation_p.V182I|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.V182I|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V182I|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V182I|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V182I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	182							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGAGCCTAGTGTAGGGTCCTG	0.488000													12	45					0	0	0.435327	0	0
RNF213	57674	broad.mit.edu	37	17	78237509	78237509	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:78237509C>A	ENST00000582970.1	+	2	172	c.29C>A	c.(28-30)tCc>tAc	p.S10Y	RNF213_ENST00000319921.4_Missense_Mutation_p.S10Y|RNF213_ENST00000456466.1_Missense_Mutation_p.S10Y|RNF213_ENST00000508628.2_Missense_Mutation_p.S10Y	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	10										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCATGTCTCCAAGGAGGAA	0.622000													22	74					1.42536e-11	1.512e-11	0.681144	1	0
RAB3B	5865	broad.mit.edu	37	1	52442680	52442680	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:52442680G>T	ENST00000371655.3	-	2	322	c.110C>A	c.(109-111)tCc>tAc	p.S37Y		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						GAAGAGGAAGGAGGTCTTGCC	0.493000													22	90					1.96895e-08	2.06835e-08	0.639603	1	0
NECAB1	64168	broad.mit.edu	37	8	91962060	91962060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:91962060G>C	ENST00000417640.2	+	11	1223	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	NECAB1_ENST00000521366.1_Missense_Mutation_p.E45Q|NECAB1_ENST00000522820.1_Missense_Mutation_p.E45Q	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	296	ABM.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GCTTTCAAATGAATCTCGCTA	0.353000													4	13					0	0	0.150653	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30926523	30926523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:30926523G>A	ENST00000428041.2	+	4	593	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	150	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GTTAGGCACAGAGGAAAAGAA	0.413000													15	57					0	0	0.592651	0	0
DLL1	28514	broad.mit.edu	37	6	170592977	170592977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:170592977C>T	ENST00000366756.3	-	9	1723	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	464	EGF-like 7; calcium-binding (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGGAGAAGTCGTTCACGCCA	0.697000													6	11					0	0	0.278610	0	0
SLC38A2	54407	broad.mit.edu	37	12	46761069	46761069	+	Silent	SNP	C	C	T	rs61761952		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:46761069C>T	ENST00000256689.5	-	5	813	c.369G>A	c.(367-369)ttG>ttA	p.L123L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	123					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGGCAGTCTTCAAAAGGAGAT	0.338000													21	107					0	0	0.654019	0	0
WDR48	57599	broad.mit.edu	37	3	39135477	39135477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135477G>A	ENST00000302313.5	+	18	1886	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	WDR48_ENST00000418020.1_Missense_Mutation_p.E62K|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.E345K|WDR48_ENST00000396258.3_Missense_Mutation_p.E538K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	620					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTAATAATGAAAAACCAGG	0.383000													9	23					0	0	0.361761	0	0
C16orf72	29035	broad.mit.edu	37	16	9210534	9210534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:9210534G>A	ENST00000327827.7	+	4	990	c.593G>A	c.(592-594)gGt>gAt	p.G198D		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	198										endometrium(4)|large_intestine(2)|lung(2)	8						GGTCTTAGTGGTGCAATGGCT	0.428000													404	92					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110534432	110534432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:110534432G>C	ENST00000378402.5	+	74	12153	c.12049G>C	c.(12049-12051)Gaa>Caa	p.E4017Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4017					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGTTATCTGAACTCCAGGA	0.348000										HNSCC(38;0.096)			8	15					0	0	0.278610	0	0
CCR8	1237	broad.mit.edu	37	3	39374203	39374203	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374203G>A	ENST00000326306.4	+	2	519	c.381G>A	c.(379-381)atG>atA	p.M127I	CCR8_ENST00000545843.1_Missense_Mutation_p.M44I|CCR8_ENST00000414803.1_Missense_Mutation_p.E70K	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	127					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCACCCTCATGAGTGTGGACA	0.512000													75	200					0	0	0.870114	0	0
EP400	57634	broad.mit.edu	37	12	132522554	132522554	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132522554G>A	ENST00000333577.4	+	33	6337	c.6228G>A	c.(6226-6228)ccG>ccA	p.P2076P	EP400_ENST00000389561.2_Silent_p.P2040P|EP400_ENST00000332482.4_Silent_p.P2003P|EP400_ENST00000389562.2_Silent_p.P2039P|EP400_ENST00000330386.6_Silent_p.P1959P			Q96L91	EP400_HUMAN	E1A binding protein p400	2076					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGGCTTCCCGGTCAAAGCTG	0.463000													49	82					0	0	0.870114	0	0
TDRD6	221400	broad.mit.edu	37	6	46660877	46660877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660877G>A	ENST00000544460.1	+	1	5266	c.5012G>A	c.(5011-5013)aGa>aAa	p.R1671K	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1671K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1671					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTAGAAATCAGAAGGGATGTT	0.303000													11	38					0	0	0.411799	0	0
KIF13A	63971	broad.mit.edu	37	6	17850667	17850667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:17850667C>T	ENST00000378814.5	-	8	603	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KIF13A_ENST00000378843.2_Missense_Mutation_p.E202K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E202K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E202K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E202K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	202	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTTCCCTCAGACATCAAT	0.413000													6	8					0	0	0.217242	0	0
EDEM3	80267	broad.mit.edu	37	1	184680990	184680990	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:184680990C>T	ENST00000318130.8	-	15	1824	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	EDEM3_ENST00000367512.3_Missense_Mutation_p.D477N	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	520					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTACTGTCATCCAGTTCTGTA	0.323000													9	33					0	0	0.361761	0	0
CUL4A	8451	broad.mit.edu	37	13	113900284	113900284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:113900284G>T	ENST00000451881.1	+	15	1494	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	CUL4A_ENST00000375441.3_Missense_Mutation_p.Q415H|CUL4A_ENST00000375440.4_Missense_Mutation_p.Q515H|CUL4A_ENST00000326335.4_Missense_Mutation_p.Q415H	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	515					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGCAGAATCAGAGTGACTCAG	0.383000													10	26					2.27111e-07	2.38114e-07	0.411799	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31121345	31121345	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:31121345G>A	ENST00000304166.4	+	6	593	c.304G>A	c.(304-306)Gac>Aac	p.D102N	ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D102N|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D102N	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	102					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGATTTTGGTGACAGTAACTC	0.493000													33	138					0	0	0.827153	0	0
FRG1	2483	broad.mit.edu	37	4	190884260	190884260	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:190884260G>A	ENST00000226798.4	+	9	975	c.753G>A	c.(751-753)ttG>ttA	p.L251L		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	251					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAGCCAAATTGAAAGCCGACA	0.299000													8	29					0	0	0.335167	0	0
RNF216	54476	broad.mit.edu	37	7	5752476	5752476	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:5752476C>G	ENST00000425013.2	-	12	1905	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E618Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	561					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGCTGCCTTCCATGCAGCTG	0.443000													17	15					0	0	0.557998	0	0
WDR90	197335	broad.mit.edu	37	16	716290	716290	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:716290C>T	ENST00000549091.1	+	37	4778	c.4686C>T	c.(4684-4686)ttC>ttT	p.F1562F	WDR90_ENST00000315764.4_Silent_p.F159F|WDR90_ENST00000547944.1_Silent_p.F159F|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Silent_p.F1560F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1560										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGACAACCTTCCGTGTGCTGA	0.627000													13	44					0	0	0.500413	0	0
FCRL2	79368	broad.mit.edu	37	1	157745580	157745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:157745580C>T	ENST00000361516.3	-	2	85	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	FCRL2_ENST00000392274.3_Missense_Mutation_p.V13I|FCRL2_ENST00000368181.4_Missense_Mutation_p.V13I	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	13					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCAGTGACTGCATCTGTG	0.428000													12	40					0	0	0.557998	0	0
S100PBP	64766	broad.mit.edu	37	1	33292214	33292214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292214G>A	ENST00000373475.5	+	3	768	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E172K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E172K	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	172						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAAGATACTGAAAAACTCTC	0.393000													12	46					0	0	0.592651	0	0
TRAK1	22906	broad.mit.edu	37	3	42242499	42242499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42242499C>A	ENST00000327628.5	+	12	1780	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	TRAK1_ENST00000449246.1_Missense_Mutation_p.D386E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.D402E|TRAK1_ENST00000396175.1_Missense_Mutation_p.D402E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	460	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCGTCCTCGACAACAAGACCA	0.577000													29	86					3.00307e-07	3.14247e-07	0.729181	1	0
PPM1B	5495	broad.mit.edu	37	2	44428664	44428664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:44428664G>A	ENST00000378551.2	+	2	738	c.326G>A	c.(325-327)gGa>gAa	p.G109E	PPM1B_ENST00000409895.4_Missense_Mutation_p.G109E|PPM1B_ENST00000409432.3_Missense_Mutation_p.G109E|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_Missense_Mutation_p.G109E|PPM1B_ENST00000345249.4_Intron	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	109					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCAGAACTGGATTTTTGAAA	0.403000													26	58					0	0	0.681144	0	0
THAP7	80764	broad.mit.edu	37	22	21354959	21354959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:21354959G>T	ENST00000215742.4	-	3	528	c.354C>A	c.(352-354)agC>agA	p.S118R	THAP7_ENST00000399133.2_Missense_Mutation_p.S118R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	118					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCTGAGCCGGCTGACTTCAG	0.612000													17	251					9.16793e-09	9.64951e-09	0.520397	1	0
EPB41	2035	broad.mit.edu	37	1	29319941	29319941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319941C>G	ENST00000343067.4	+	3	695	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	EPB41_ENST00000373798.1_Missense_Mutation_p.Q190E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q190E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q190E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q190E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q190E|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	190					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGAAAGCCCTCAATCAAAAGC	0.388000													26	62					0	0	0.706142	0	0
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:3331170G>C	ENST00000378398.3	+	11	2732	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.E884Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E885Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E884Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.E884Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	884	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667000			T	EVI1	"""MDS, AML"""								4	27					0	0	0.184627	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701419	23701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:23701419C>T	ENST00000397312.2	-	5	945	c.671G>A	c.(670-672)aGa>aAa	p.R224K	ELAVL2_ENST00000380117.1_Missense_Mutation_p.R224K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R224K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R253K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R224K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	224					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGATACCTTCTGTTTGGAGA	0.488000													23	153					0	0	0.681144	0	0
GCKR	2646	broad.mit.edu	37	2	27729747	27729747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:27729747G>C	ENST00000264717.2	+	12	1124	c.1061G>C	c.(1060-1062)gGt>gCt	p.G354A	GCKR_ENST00000424318.2_Missense_Mutation_p.G164A	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	354	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACACCTTTGGTGCTGGTGGG	0.552000													48	109					0	0	0.870114	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64507920	64507920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:64507920A>G	ENST00000498707.1	-	39	6077	c.5735T>C	c.(5734-5736)gTa>gCa	p.V1912A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1884A|ADAMTS9_ENST00000467257.1_5'UTR	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1912	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCATTTCCCTACGACTCGGGT	0.488000													23	84					0	0	0.706142	0	0
DNAH1	25981	broad.mit.edu	37	3	52429361	52429361	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52429361C>G	ENST00000420323.2	+	69	11267	c.11006C>G	c.(11005-11007)tCc>tGc	p.S3669C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3734					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTCCAACTCCACCACACCC	0.567000													12	44					0	0	0.520397	0	0
HOXA3	3200	broad.mit.edu	37	7	27147998	27147998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:27147998C>T	ENST00000396352.4	-	3	1067	c.868G>A	c.(868-870)Gag>Aag	p.E290K	HOXA3_ENST00000317201.2_Missense_Mutation_p.E290K|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	290					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GACTGGGGCTCATACGGGACG	0.701000													7	57					0	0	0.307466	0	0
OPTN	10133	broad.mit.edu	37	10	13164440	13164440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:13164440G>C	ENST00000378748.3	+	9	1197	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	OPTN_ENST00000378764.2_Missense_Mutation_p.E273Q|OPTN_ENST00000378757.2_Missense_Mutation_p.E279Q|OPTN_ENST00000263036.5_Missense_Mutation_p.E279Q|OPTN_ENST00000378747.3_Missense_Mutation_p.E279Q|OPTN_ENST00000378752.3_Missense_Mutation_p.E273Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	279					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AACCCAGACAGAGGGGAGCAC	0.433000													14	63					0	0	0.500413	0	0
LMAN1L	79748	broad.mit.edu	37	15	75112416	75112416	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:75112416C>T	ENST00000309664.5	+	7	889	c.750C>T	c.(748-750)ttC>ttT	p.F250F	LMAN1L_ENST00000379709.3_Intron	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	250	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGACCTTCAGCCTGAGTG	0.612000													17	100					0	0	0.608945	0	0
ANK3	288	broad.mit.edu	37	10	61834597	61834597	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:61834597C>G	ENST00000280772.2	-	37	6233	c.6042G>C	c.(6040-6042)gaG>gaC	p.E2014D	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTGCACTCTCTCTGGCAGAG	0.438000													53	48					0	0	0.870114	0	0
NCOA1	8648	broad.mit.edu	37	2	24980905	24980905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:24980905G>C	ENST00000405141.1	+	22	4656	c.3945G>C	c.(3943-3945)atG>atC	p.M1315I	NCOA1_ENST00000406961.1_Missense_Mutation_p.M1315I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M1315I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M1315I|NCOA1_ENST00000407230.1_Missense_Mutation_p.M1164I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M1315I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M1315I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1315									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACAACATGAGCATCACCG	0.473000			T	PAX3	alveolar rhadomyosarcoma								20	55					0	0	0.557998	0	0
PRSS21	10942	broad.mit.edu	37	16	2871063	2871063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2871063G>A	ENST00000455114.1	+	5	758	c.652G>A	c.(652-654)Gac>Aac	p.D218N	PRSS21_ENST00000005995.3_Missense_Mutation_p.D220N|PRSS21_ENST00000450020.3_Missense_Mutation_p.D220N|PRSS21_ENST00000575739.1_Intron	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	220	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CATCTTTGGAGACATGGTTTG	0.542000													54	206					0	0	0.870114	0	0
CTSL	1514	broad.mit.edu	37	9	90342571	90342571	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:90342571C>G	ENST00000343150.5	+	2	943	c.53C>G	c.(52-54)aCt>aGt	p.T18S	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.T18S|CTSL_ENST00000342020.5_Missense_Mutation_p.T18S					cathepsin L																		GCCTCAGCTACTCTAACATTT	0.428000													3	124					0	0	0.150653	0	0
ABCA1	19	broad.mit.edu	37	9	107554264	107554264	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:107554264G>A	ENST00000374736.3	-	43	6167	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1925	ABC transporter 2.		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane).		Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAGGCTTCCGCTTCCTTCTA	0.438000													6	33					0	0	0.335167	0	0
RNF10	9921	broad.mit.edu	37	12	120995453	120995453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120995453G>A	ENST00000325954.4	+	6	1396	c.935G>A	c.(934-936)tGg>tAg	p.W312*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.W312*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	312					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATCCAAATGGATGAATGTA	0.413000													21	93					0	0	0.639603	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44968315	44968315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:44968315C>T	ENST00000296127.3	-	8	1123	c.850G>A	c.(850-852)Gag>Aag	p.E284K	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.E290K|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.E256K	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	284						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATCTTCTCTCTTCCTTTTTC	0.478000													9	52					0	0	0.361761	0	0
BTN1A1	696	broad.mit.edu	37	6	26508197	26508197	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26508197C>T	ENST00000244513.6	+	5	945	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	293	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGAAGAACTCAGTAAGTTCT	0.383000													17	91					0	0	0.624587	0	0
RECK	8434	broad.mit.edu	37	9	36118870	36118870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:36118870C>T	ENST00000377966.3	+	18	2936	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	790						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCCAGGCCGTCGGAGTCCTCT	0.602000													13	72					0	0	0.435327	0	0
HNMT	3176	broad.mit.edu	37	2	138738791	138738791	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:138738791C>G	ENST00000329366.4	+	3	378	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V	HNMT_ENST00000410115.1_Intron|HNMT_ENST00000280097.3_Intron|HNMT_ENST00000485653.1_Intron	NM_001024075.1	NP_001019246.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TGCAGATTGTCTCATTCGGGG	0.458000													6	20					0	0	0.217242	0	0
TIAM1	7074	broad.mit.edu	37	21	32519223	32519223	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519223G>T	ENST00000286827.3	-	21	3936	c.3465C>A	c.(3463-3465)gtC>gtA	p.V1155V	TIAM1_ENST00000541036.1_Silent_p.V1095V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1155	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTTCACCAGGACCTTGGGAA	0.527000													9	28					1.11149e-13	1.18369e-13	0.361761	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919336	130919336	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:130919336G>A	ENST00000261655.4	-	11	2308	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RIMBP2_ENST00000536002.1_Silent_p.F623F|RIMBP2_ENST00000535703.1_Silent_p.F623F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	715						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCCTCCTCTTGAAGTCTGGAG	0.612000													7	67					0	0	0.278610	0	0
S100PBP	64766	broad.mit.edu	37	1	33292181	33292181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292181G>C	ENST00000373475.5	+	3	735	c.481G>C	c.(481-483)Gat>Cat	p.D161H	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.D161H|S100PBP_ENST00000398243.3_Missense_Mutation_p.D161H	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	161						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTCTGCTTGATAAGGACGA	0.383000													11	51					0	0	0.557998	0	0
RBM10	8241	broad.mit.edu	37	X	47045024	47045024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:47045024C>G	ENST00000377604.3	+	20	3092	c.2350C>G	c.(2350-2352)Cac>Gac	p.H784D	RBM10_ENST00000345781.6_Missense_Mutation_p.H707D|RBM10_ENST00000329236.7_Missense_Mutation_p.H706D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	784					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTCAGGGCTCCACAAGGTAAC	0.612000													4	3					0	0	0.184627	0	0
NKTR	4820	broad.mit.edu	37	3	42679601	42679601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42679601G>C	ENST00000232978.8	+	13	2593	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	802	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGCGAGAGCAGATCATCTTTA	0.423000													36	84					0	0	0.804634	0	0
DDX11	1663	broad.mit.edu	37	12	31256888	31256888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:31256888G>A	ENST00000407793.2	+	27	3085	c.2834G>A	c.(2833-2835)aGa>aAa	p.R945K	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R945K|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	945					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCAGGAGGAGAGTGTGGAGT	0.602000										Multiple Myeloma(12;0.14)			4	6					0	0	0.150653	0	0
TSHR	7253	broad.mit.edu	37	14	81609785	81609785	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:81609785C>G	ENST00000541158.2	+	11	1705	c.1383C>G	c.(1381-1383)ttC>ttG	p.F461L	TSHR_ENST00000298171.2_Missense_Mutation_p.F461L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	461					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTGCGGATTTCTGCATGGGGA	0.542000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	86					0	0	0.779181	0	0
C21orf2	755	broad.mit.edu	37	21	45751736	45751736	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:45751736C>G	ENST00000339818.4	-	5	742	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.E179Q|C21orf2_ENST00000397956.3_Missense_Mutation_p.E179Q|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	179										endometrium(2)	2				Colorectal(79;0.0806)		GTTGCCTCCTCCTCGCTGTCC	0.692000													3	12					0	0	0.150653	0	0
MYO18A	399687	broad.mit.edu	37	17	27413464	27413464	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:27413464G>A	ENST00000527372.1	-	39	6024	c.5844C>T	c.(5842-5844)ctC>ctT	p.L1948L	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000531253.1_Silent_p.L1948L|MYO18A_ENST00000533112.1_Silent_p.L1911L|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Silent_p.L1948L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1948					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGTTGATGAGGTCCTCAT	0.562000													3	7					0	0	0.184627	0	0
PARD3B	117583	broad.mit.edu	37	2	206023598	206023598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023598C>G	ENST00000406610.2	+	11	1794	c.1587C>G	c.(1585-1587)atC>atG	p.I529M	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.I529M|PARD3B_ENST00000462231.1_Missense_Mutation_p.I529M|PARD3B_ENST00000351153.1_Missense_Mutation_p.I529M	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	529	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATTTTTATCAAATCCATCA	0.453000													8	51					0	0	0.500413	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99725743C>T	ENST00000398075.2	+	2	1124	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity|metal ion binding	p.S242L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGGGAAGCCTCGCAGCCCGAG	0.677000													3	10					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179395756	179395756	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179395756C>T	ENST00000589042.1	-	358	105810	c.105586G>A	c.(105586-105588)Gag>Aag	p.E35196K	TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32628K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26256K|TTN_ENST00000460472.2_Missense_Mutation_p.E26131K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26323K|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33555K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33555							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)			TAATTGCCCTCATCGGAAGCC	0.478000													93	261					0	0	0.870114	0	0
MDH1	4190	broad.mit.edu	37	2	63824624	63824624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:63824624G>C	ENST00000233114.8	+	4	726	c.291G>C	c.(289-291)gaG>gaC	p.E97D	MDH1_ENST00000539945.1_Missense_Mutation_p.E115D|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.E8D|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.E97D	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	97					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	AAGGCATGGAGAGAAAAGATT	0.443000													11	20					0	0	0.435327	0	0
PARD3B	117583	broad.mit.edu	37	2	206023538	206023538	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023538C>A	ENST00000406610.2	+	11	1734	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.L509L|PARD3B_ENST00000462231.1_Silent_p.L509L|PARD3B_ENST00000351153.1_Silent_p.L509L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	509	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCTGGCCTCGGGGTGAGCT	0.488000													19	69					9.04412e-07	9.42749e-07	0.681144	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77328882	77328882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77328882G>C	ENST00000282849.5	-	19	3362	c.2944C>G	c.(2944-2946)Cag>Gag	p.Q982E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	982	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTTGGACCTGAGTGGGTGTG	0.542000													13	22					0	0	0.457914	0	0
PSMD1	5707	broad.mit.edu	37	2	231925981	231925981	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:231925981C>A	ENST00000308696.6	+	2	179	c.17C>A	c.(16-18)gCt>gAt	p.A6D	PSMD1_ENST00000409643.1_Splice_Site_p.A6D|PSMD1_ENST00000373635.4_Splice_Site_p.A6D	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	6					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTTCTCATAGCTGGAATTATT	0.323000													10	50					0.0202918	0.0206739	0.457914	1	0
VILL	50853	broad.mit.edu	37	3	38042961	38042961	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38042961G>A	ENST00000283713.6	+	12	1463	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q	VILL_ENST00000383759.2_Silent_p.Q399Q|VILL_ENST00000465644.1_Silent_p.Q117Q			O15195	VILL_HUMAN	villin-like	399					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTGCATCCAGGACTTACACA	0.602000													12	79					0	0	0.411799	0	0
KANK4	163782	broad.mit.edu	37	1	62728783	62728783	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:62728783C>T	ENST00000371153.4	-	7	2898	c.2520G>A	c.(2518-2520)gtG>gtA	p.V840V	KANK4_ENST00000354381.3_Silent_p.V212V|KANK4_ENST00000371150.1_Silent_p.V196V|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	840			V -> A (in dbSNP:rs2666472).							NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCAGCAGCTTCACGATGGAGA	0.483000													5	24					0	0	0.361761	0	0
NDST4	64579	broad.mit.edu	37	4	115760536	115760536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:115760536G>C	ENST00000264363.2	-	11	2962	c.2284C>G	c.(2284-2286)Cag>Gag	p.Q762E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	762	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACATTACCTGAGAAGTAGCA	0.328000													29	63					0	0	0.750413	0	0
NUB1	51667	broad.mit.edu	37	7	151073831	151073831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:151073831C>A	ENST00000568733.1	+	14	1741	c.1675C>A	c.(1675-1677)Ccc>Acc	p.P559T	NUB1_ENST00000413040.2_Missense_Mutation_p.P545T|NUB1_ENST00000566856.1_Missense_Mutation_p.P521T|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000355851.4_Missense_Mutation_p.P535T			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	535	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAGCCTGCCTCCCGAGCTGCC	0.627000													4	7					0.00909568	0.00930201	0.150653	1	0
INTS7	25896	broad.mit.edu	37	1	212190291	212190291	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:212190291G>A	ENST00000366994.3	-	4	550	c.446C>T	c.(445-447)tCa>tTa	p.S149L	INTS7_ENST00000366992.3_Missense_Mutation_p.S149L|INTS7_ENST00000366993.3_Missense_Mutation_p.S149L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.S100L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	149					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTATCATGTGAATCTAAACT	0.388000													31	71					0	0	0.769981	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45720793	45720793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45720793C>T	ENST00000413988.1	-	8	852	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R271Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	271										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GACCAGCCGCCGGAACAGCCT	0.701000													3	12					0	0	0.115264	0	0
BAI1	575	broad.mit.edu	37	8	143570748	143570748	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:143570748G>A	ENST00000517894.1	+	16	3474	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	BAI1_ENST00000323289.5_Silent_p.P860P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	860					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAACCCCCGCCTCGCTCCC	0.602000													32	144					0	0	0.804634	0	0
TMEM177	80775	broad.mit.edu	37	2	120439083	120439083	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120439083C>T	ENST00000424086.1	+	2	1127	c.654C>T	c.(652-654)ttC>ttT	p.F218F	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.F218F|TMEM177_ENST00000401466.1_Silent_p.F218F	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	218						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCTACGCCTTCTCCCAGGATT	0.612000													13	50					0	0	0.479597	0	0
RSPRY1	89970	broad.mit.edu	37	16	57250818	57250818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57250818G>T	ENST00000537866.1	+	8	1645	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	RSPRY1_ENST00000394420.4_Nonsense_Mutation_p.E258*			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	258						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAAACAGGTGAAAATAAATT	0.378000													16	78					8.00594e-06	8.32926e-06	0.557998	1	0
MAN2A1	4124	broad.mit.edu	37	5	109191017	109191017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:109191017G>C	ENST00000261483.4	+	20	4205	c.3153G>C	c.(3151-3153)ttG>ttC	p.L1051F	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1051					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGTTAATTTGAGAACAATAC	0.338000													14	24					0	0	0.520397	0	0
SMAD3	4088	broad.mit.edu	37	15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67457635G>A	ENST00000327367.4	+	3	755	c.445G>A	c.(445-447)Gag>Aag	p.E149K	SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K|SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	149	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602000													31	153					0	0	0.729181	0	0
RASD2	23551	broad.mit.edu	37	22	35947615	35947615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:35947615C>T	ENST00000216127.4	+	3	979	c.337C>T	c.(337-339)Cag>Tag	p.Q113*		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	113					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAAGCGCCTTCAGAAGCAGAT	0.582000													26	42					0	0	0.681144	0	0
RARRES3	5920	broad.mit.edu	37	11	63312136	63312136	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:63312136G>A	ENST00000439013.2	+	3	215	c.162G>A	c.(160-162)ctG>ctA	p.L54L	RARRES3_ENST00000354445.2_Silent_p.L54L|RARRES3_ENST00000255688.3_Silent_p.L54L|RARRES3_ENST00000537871.1_3'UTR			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	54					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCTCAGTCCTGAGCAACAGTG	0.582000													32	162					0	0	0.769981	0	0
TLL2	7093	broad.mit.edu	37	10	98155023	98155023	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155023C>T	ENST00000357947.3	-	13	1872	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	549	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTTGGAGCTCGATTTCACAT	0.493000													18	40					0	0	0.870114	0	0
DTNB	1838	broad.mit.edu	37	2	25803620	25803620	+	Missense_Mutation	SNP	G	G	A	rs111695014	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803620G>A	ENST00000406818.3	-	7	928	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	DTNB_ENST00000496972.2_Missense_Mutation_p.L170F|DTNB_ENST00000405222.1_Missense_Mutation_p.L227F|DTNB_ENST00000407186.1_Missense_Mutation_p.L227F|DTNB_ENST00000404103.3_Missense_Mutation_p.L227F|DTNB_ENST00000545439.1_Missense_Mutation_p.L23F|DTNB_ENST00000407661.3_Missense_Mutation_p.L227F|DTNB_ENST00000407038.3_Missense_Mutation_p.L227F|DTNB_ENST00000288642.8_Missense_Mutation_p.L227F|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	227						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCATGAGAGGTAGCCAG	0.398000													29	72					0	0	0.779181	0	0
IGSF9B	22997	broad.mit.edu	37	11	133792552	133792552	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:133792552G>A	ENST00000321016.8	-	16	2423	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	IGSF9B_ENST00000533871.2_Silent_p.I731I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	731						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAAGAAGCAGATGGTAGCTA	0.607000													4	5					0	0	0.150653	0	0
GAB4	128954	broad.mit.edu	37	22	17447110	17447110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:17447110G>A	ENST00000400588.1	-	6	1275	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	390										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGCGAACAAGACATGAGCCC	0.607000													15	76					0	0	0.500413	0	0
SUPT20H	55578	broad.mit.edu	37	13	37583842	37583842	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:37583842C>A	ENST00000350612.6	-	26	2527	c.2307G>T	c.(2305-2307)atG>atT	p.M769I	SUPT20H_ENST00000356185.3_3'UTR|SUPT20H_ENST00000464744.1_3'UTR|SUPT20H_ENST00000475892.1_3'UTR|SUPT20H_ENST00000360252.4_3'UTR	NM_001014286.2	NP_001014308.2			suppressor of Ty 20 homolog (S. cerevisiae)																		TGCCTCTCTTCATTTTACTTT	0.413000													12	109					0.0167234	0.0170705	0.435327	1	0
PARD3B	117583	broad.mit.edu	37	2	206023564	206023564	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023564C>G	ENST00000406610.2	+	11	1760	c.1553C>G	c.(1552-1554)tCc>tGc	p.S518C	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.S518C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S518C|PARD3B_ENST00000351153.1_Missense_Mutation_p.S518C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	518	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAACAAATCCAGAGAAACT	0.473000													13	60					0	0	0.575678	0	0
GJB3	2707	broad.mit.edu	37	1	35251005	35251005	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:35251005C>G	ENST00000373366.2	+	2	1257	c.642C>G	c.(640-642)gtC>gtG	p.V214V	GJB3_ENST00000373362.3_Silent_p.V214V|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	214					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.V214>?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCACAGGGTCCTGCGAGGCC	0.622000													13	33					0	0	0.457914	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298164	43298164	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:43298164A>G	ENST00000325110.6	-	4	727	c.521T>C	c.(520-522)gTt>gCt	p.V174A	HMGCS1_ENST00000433297.2_Missense_Mutation_p.V174A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	174					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TACTGCTCCAACTCCACCTGT	0.398000													24	95					0	0	0.717897	0	0
DBI	1622	broad.mit.edu	37	2	120128357	120128357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120128357G>A	ENST00000542275.1	+	3	436	c.352G>A	c.(352-354)Gat>Aat	p.D118N	DBI_ENST00000355857.3_Missense_Mutation_p.D57N|DBI_ENST00000311521.4_Missense_Mutation_p.D74N|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.D74N|DBI_ENST00000393103.2_Missense_Mutation_p.D58N|DBI_ENST00000535757.1_Missense_Mutation_p.D74N|DBI_ENST00000535617.1_Missense_Mutation_p.D99N	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	57					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GGCCAAGTGGGATGCCTGGAA	0.428000													5	34					0	0	0.278610	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608848	33608848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:33608848G>A	ENST00000170564.2	+	16	2628	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	772						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTCCGAGGATGAGCAAGGTGA	0.552000													7	57					0	0	0.278610	0	0
CEP72	55722	broad.mit.edu	37	5	637673	637673	+	Missense_Mutation	SNP	G	G	C	rs150376362	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:637673G>C	ENST00000264935.5	+	7	1036	c.946G>C	c.(946-948)Gat>Cat	p.D316H	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	316					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TCAGAAGTTGGATTTGTCAGG	0.547000													20	55					0	0	0.608945	0	0
KLHL11	55175	broad.mit.edu	37	17	40021195	40021195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:40021195C>T	ENST00000319121.3	-	1	489	c.429G>A	c.(427-429)tgG>tgA	p.W143*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	143	BTB.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCTCGGAGCTCCACTTGCGCA	0.677000													23	40					0	0	0.693898	0	0
KALRN	8997	broad.mit.edu	37	3	124356151	124356151	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:124356151G>A	ENST00000291478.5	+	4	733		c.e4+1		KALRN_ENST00000393496.1_Intron|KALRN_ENST00000360013.3_Splice_Site|KALRN_ENST00000459915.1_Splice_Site|KALRN_ENST00000428018.2_Intron	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAACAAGCTGGTAAGTGGGGG	0.522000													8	66					0	0	0.361761	0	0
PRDM11	56981	broad.mit.edu	37	11	45245797	45245797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:45245797G>C	ENST00000263765.4	+	8	1123	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	PRDM11_ENST00000530656.1_Missense_Mutation_p.E292Q|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.E258Q|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	292										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGAGAAGTCTGAGCAGGTTCT	0.502000													26	138					0	0	0.760397	0	0
PBRM1	55193	broad.mit.edu	37	3	52651349	52651349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52651349C>T	ENST00000356770.4	-	13	1653	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	PBRM1_ENST00000409057.1_Missense_Mutation_p.E583K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E583K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E598K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E583K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E598K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E583K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E583K			Q86U86	PB1_HUMAN	polybromo 1	583	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA 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)		ATTCCCTCTTCACCAGCATAT	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								25	44					0	0	0.681144	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509837	125509837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:125509837G>A	ENST00000341446.8	+	3	708	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	206						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TTCTACTGGCGAAGCAGTCCC	0.632000													3	19					0	0	0.184627	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038435	89038435	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:89038435G>C	ENST00000251038.5	+	5	522	c.297G>C	c.(295-297)aaG>aaC	p.K99N	ZC3H14_ENST00000359301.3_Missense_Mutation_p.K65N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.K99N|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Missense_Mutation_p.K99N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.K99N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.K65N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.K99N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	99						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTTCAAACAAGAGCAATTTCA	0.413000													18	77					0	0	0.575678	0	0
MAN1B1	11253	broad.mit.edu	37	9	140002885	140002885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002885C>G	ENST00000371589.4	+	13	2015	c.1942C>G	c.(1942-1944)Cag>Gag	p.Q648E	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.Q351E	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	648					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCAGGATCCTCAGAAGCCCGA	0.597000													10	85					0	0	0.387290	0	0
YOD1	55432	broad.mit.edu	37	1	207222498	207222498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:207222498C>G	ENST00000367084.1	-	4	986	c.782G>C	c.(781-783)aGa>aCa	p.R261T	YOD1_ENST00000315927.4_Missense_Mutation_p.R305T|YOD1_ENST00000391927.1_Missense_Mutation_p.R261T	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	305	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCTCCTTCTTCTAGCTTCATC	0.443000													56	135					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13823435	13823435	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:13823435G>C	ENST00000265104.4	-	40	6728	c.6624C>G	c.(6622-6624)ctC>ctG	p.L2208L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2208					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTGGAAAGAGATCTTCAA	0.383000									Kartagener syndrome				10	122					0	0	0.387290	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389529	6389529	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:6389529G>A	ENST00000394456.5	-	4	716	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	84					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGACGATGCCGTACTTCTTCC	0.617000													5	207					0	0	0.184627	0	0
TDP2	51567	broad.mit.edu	37	6	24666972	24666972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:24666972G>A	ENST00000378198.4	-	1	289	c.119C>T	c.(118-120)gCc>gTc	p.A40V	TDP2_ENST00000545995.1_Missense_Mutation_p.A70V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	40					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AGCCACTGCGGCATCGCAGCT	0.632000								Direct reversal of damage					5	242					0	0	0.248553	0	0
CDK15	65061	broad.mit.edu	37	2	202755540	202755540	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202755540C>T	ENST00000450471.2	+	13	1299	c.1213C>T	c.(1213-1215)Cta>Tta	p.L405L	CDK15_ENST00000410091.3_Silent_p.L360L|CDK15_ENST00000374598.4_Silent_p.L411L|CDK15_ENST00000260967.2_Silent_p.L360L	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	411							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGGAGTGAGGCTAAAGCCAGA	0.443000													22	42					0	0	0.750413	0	0
TTBK1	84630	broad.mit.edu	37	6	43251283	43251283	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:43251283G>A	ENST00000259750.4	+	14	2888	c.2805G>A	c.(2803-2805)gaG>gaA	p.E935E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	935						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACATTGCGGAGAAAACCCACC	0.632000													31	73					0	0	0.788014	0	0
ARNTL2	56938	broad.mit.edu	37	12	27521207	27521207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:27521207G>C	ENST00000544915.1	+	2	263	c.44G>C	c.(43-45)aGa>aCa	p.R15T	ARNTL2_ENST00000311001.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R26T|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R26T|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R15T	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	15					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAAGTGTTGAGAGAGGAGAAC	0.413000													11	46					0	0	0.500413	0	0
C2orf78	388960	broad.mit.edu	37	2	74043174	74043174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:74043174G>C	ENST00000409561.1	+	3	1945	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	608	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAAACGGAAGAAAAATCAAC	0.453000													15	33					0	0	0.557998	0	0
ZFAT	57623	broad.mit.edu	37	8	135524803	135524803	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:135524803G>C	ENST00000520727.1	-	15	3539	c.3240C>G	c.(3238-3240)ctC>ctG	p.L1080L	ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Silent_p.L1080L|ZFAT_ENST00000377838.3_Silent_p.L1092L|ZFAT_ENST00000520214.1_Silent_p.L1080L|ZFAT_ENST00000523399.1_Silent_p.L1030L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTGATGTGGAGATACTGGG	0.522000													35	103					0	0	0.812448	0	0
EVPL	2125	broad.mit.edu	37	17	74015086	74015086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:74015086C>T	ENST00000301607.3	-	11	1446	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R398Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	398	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCCCGGCTTCGCCGCTGCAG	0.672000													5	9					0	0	0.217242	0	0
SMG1	23049	broad.mit.edu	37	16	18853033	18853033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:18853033C>T	ENST00000446231.2	-	41	6962	c.6550G>A	c.(6550-6552)Gaa>Aaa	p.E2184K	SMG1_ENST00000389467.3_Missense_Mutation_p.E2184K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2184	PI3K/PI4K.				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			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						CGGGGTGTTTCTTGGCGATTA	0.413000													115	164					0	0	0.870114	0	0
RELT	84957	broad.mit.edu	37	11	73102216	73102216	+	Silent	SNP	C	C	T	rs146023545	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:73102216C>T	ENST00000064780.2	+	5	576	c.315C>T	c.(313-315)cgC>cgT	p.R105R	RELT_ENST00000393580.2_Silent_p.R105R	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	105						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGTTCCCCGCGTTCCATGTC	0.587000													51	91					0	0	0.870114	0	0
FNDC7	163479	broad.mit.edu	37	1	109265152	109265152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:109265152C>T	ENST00000370017.3	+	5	1071	c.794C>T	c.(793-795)tCa>tTa	p.S265L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S266L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	266	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TACTTGATTTCAGTTTTAGCA	0.453000													14	44					0	0	0.457914	0	0
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:149248116G>C	ENST00000407073.1	+	12	5213	c.4216G>C	c.(4216-4218)Gaa>Caa	p.E1406Q	MBD5_ENST00000404807.1_Missense_Mutation_p.E1639Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403000													10	33					0	0	0.361761	0	0
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:1842969C>T	ENST00000399161.2	-	21	3779	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.G1009E|MYT1L_ENST00000407844.1_Missense_Mutation_p.G7E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1011					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667000													9	39					0	0	0.411799	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434370	85434370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:85434370G>A	ENST00000393217.2	+	3	296	c.235G>A	c.(235-237)Gat>Aat	p.D79N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	79										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAGATACTGATATTTTAAG	0.313000													9	54					0	0	0.411799	0	0
ATG13	9776	broad.mit.edu	37	11	46679081	46679081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:46679081G>C	ENST00000434074.1	+	9	1293	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	ATG13_ENST00000529655.1_Missense_Mutation_p.E202Q|ATG13_ENST00000530500.1_Missense_Mutation_p.E123Q|ATG13_ENST00000526508.1_Missense_Mutation_p.E202Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E202Q|ATG13_ENST00000524625.1_Missense_Mutation_p.E202Q|ATG13_ENST00000312040.4_Missense_Mutation_p.E202Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E202Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E202Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	202					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CAGGCAATTTGAGAGGACCCC	0.488000													21	58					0	0	0.624587	0	0
TERT	7015	broad.mit.edu	37	5	1268641	1268641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:1268641C>T	ENST00000310581.5	-	9	2633	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	TERT_ENST00000508104.2_Silent_p.A798A|TERT_ENST00000334602.6_Missense_Mutation_p.R859Q|TERT_ENST00000296820.5_Silent_p.A798A	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	859	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCACCCGTCCCGCCGAATCCC	0.597000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	49					0	0	0.217242	0	0
VSIG10	54621	broad.mit.edu	37	12	118533368	118533368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:118533368G>A	ENST00000359236.5	-	2	607	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	111	Ig-like C2-type 1.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGGAACCACTGAGTCACATTC	0.592000													21	133					0	0	0.681144	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576726	149576726	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:149576726C>A	ENST00000421974.2	+	3	1553	c.602C>A	c.(601-603)cCt>cAt	p.P201H	ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Missense_Mutation_p.P152H|ATP6V0E2_ENST00000479613.1_Missense_Mutation_p.P175H|ATP6V0E2_ENST00000425642.2_3'UTR	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GGGTCTTTCCCTTTACAGACG	0.632000													5	15					0.0293803	0.0298774	0.248553	1	0
MED24	9862	broad.mit.edu	37	17	38178927	38178927	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38178927G>C	ENST00000394126.1	-	20	2896	c.2478C>G	c.(2476-2478)ctC>ctG	p.L826L	MED24_ENST00000356271.3_Silent_p.L788L|MED24_ENST00000394127.2_Silent_p.L788L|MED24_ENST00000394128.2_Silent_p.L801L|MED24_ENST00000501516.3_Silent_p.L820L			O75448	MED24_HUMAN	mediator complex subunit 24	801					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGGGGTCCATGAGGCTGTGCC	0.617000													14	24					0	0	0.557998	0	0
CALCRL	10203	broad.mit.edu	37	2	188228182	188228182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:188228182G>A	ENST00000409998.1	-	10	1329	c.548C>T	c.(547-549)tCa>tTa	p.S183L	CALCRL_ENST00000410068.1_Missense_Mutation_p.S183L|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.S183L|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	183						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACAAACAAATGAGAAGAACAG	0.368000													17	42					0	0	0.557998	0	0
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4927465G>C	ENST00000396658.4	+	16	4048	c.3345G>C	c.(3343-3345)caG>caC	p.Q1115H	UBN1_ENST00000262376.6_Missense_Mutation_p.Q1115H|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000545171.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642000													27	140					0	0	0.706142	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352451	58352451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:58352451C>T	ENST00000442832.4	+	3	643	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Nonsense_Mutation_p.Q136*|ZNF587B_ENST00000594901.1_Nonsense_Mutation_p.Q137*	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	137					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										AAACTTTCATCAGCACCAGAA	0.478000													4	48					0	0	0.217242	0	0
SPRTN	83932	broad.mit.edu	37	1	231474322	231474322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:231474322G>C	ENST00000391858.4	+	1	1473	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	SPRTN_ENST00000008440.9_Missense_Mutation_p.E65Q|SPRTN_ENST00000295050.7_Missense_Mutation_p.E65Q					SprT-like N-terminal domain																		GGAGGCCGTCGAGGTGAAGTG	0.617000													32	133					0	0	0.796494	0	0
MME	4311	broad.mit.edu	37	3	154855989	154855989	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:154855989G>C	ENST00000460393.1	+	9	939	c.819G>C	c.(817-819)atG>atC	p.M273I	MME_ENST00000462745.1_Missense_Mutation_p.M273I|MME_ENST00000360490.2_Missense_Mutation_p.M273I|MME_ENST00000493237.1_Missense_Mutation_p.M273I|MME_ENST00000492661.1_Missense_Mutation_p.M273I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	273					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTTTGGAAATGAATAAAGTTA	0.358000													14	73					0	0	0.435327	0	0
ADAM22	53616	broad.mit.edu	37	7	87563851	87563851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:87563851G>A	ENST00000398204.4	+	1	394	c.71G>A	c.(70-72)cGc>cAc	p.R24H	ADAM22_ENST00000398201.4_Missense_Mutation_p.R24H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R24H|ADAM22_ENST00000265727.7_Missense_Mutation_p.R24H|ADAM22_ENST00000315984.7_Missense_Mutation_p.R24H|ADAM22_ENST00000439864.1_Missense_Mutation_p.R24H	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	24					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCGGCGCGCTGCGGCCAG	0.647000													3	16					0	0	0.150653	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905682	139905682	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139905682A>G	ENST00000297183.6	+	26	4718	c.4594A>G	c.(4594-4596)Agg>Ggg	p.R1532G	ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1532G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1532G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGT	0.423000													3	104					0	0	0.115264	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750149	8750149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:8750149G>A	ENST00000276282.6	-	1	1006	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	140										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGCTGAGGTTGAGCTTCCGCA	0.692000													4	4					0	0	0.184627	0	0
GBP1	2633	broad.mit.edu	37	1	89520378	89520378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:89520378G>A	ENST00000370473.4	-	10	1871	c.1652C>T	c.(1651-1653)gCt>gTt	p.A551V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	551					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AAGTTTAAGAGCGAGGGTCCT	0.448000													39	100					0	0	0.819951	0	0
SPECC1L	23384	broad.mit.edu	37	22	24761541	24761541	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:24761541G>A	ENST00000314328.9	+	13	3210	c.2925G>A	c.(2923-2925)caG>caA	p.Q975Q	SPECC1L_ENST00000437398.1_Silent_p.Q975Q|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Silent_p.Q975Q	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	975					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CGTCTCCACAGCTTTCCCTGT	0.512000													35	162					0	0	0.840704	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717298	222717298	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222717298C>T	ENST00000343410.6	-	2	613	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	185					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGTCGTTCCTCAGGACATTAG	0.612000													22	50					0	0	0.639603	0	0
PSMD2	5708	broad.mit.edu	37	3	184026528	184026528	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:184026528G>A	ENST00000310118.4	+	21	3135	c.2577G>A	c.(2575-2577)ccG>ccA	p.P859P	PSMD2_ENST00000435761.1_Silent_p.P700P|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.P729P	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	859					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGGCAAGCCGAAGACTATCA	0.547000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	53					0	0	0.827153	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:22842526C>T	ENST00000360412.2	-	4	1973	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E400K	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433000													42	236					0	0	0.864702	0	0
R3HDML	140902	broad.mit.edu	37	20	42969880	42969880	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:42969880C>T	ENST00000217043.2	+	2	478	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	102						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCTGGGCCACCCAGTGCATCT	0.587000													25	54					0	0	0.729181	0	0
LENG9	94059	broad.mit.edu	37	19	54973627	54973627	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:54973627C>T	ENST00000333834.4	-	1	1267	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	383					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCCGTCTCAGAGCTCCAA	0.657000													7	39					0	0	0.335167	0	0
PPL	5493	broad.mit.edu	37	16	4933975	4933975	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4933975G>A	ENST00000345988.2	-	22	4770	c.4681C>T	c.(4681-4683)Ctg>Ttg	p.L1561L	PPL_ENST00000590782.2_Silent_p.L1559L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1561					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTTCCCTCAGAAAGTCTAGT	0.552000													13	65					0	0	0.457914	0	0
ABCA13	154664	broad.mit.edu	37	7	48391850	48391850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:48391850C>T	ENST00000435803.1	+	31	10478	c.10454C>T	c.(10453-10455)tCa>tTa	p.S3485L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3485					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCCATGTCTCATACACAATC	0.443000													35	144					0	0	0.840704	0	0
PRPF3	9129	broad.mit.edu	37	1	150307520	150307520	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:150307520G>C	ENST00000324862.6	+	7	1008	c.843G>C	c.(841-843)ctG>ctC	p.L281L	PRPF3_ENST00000414970.2_Silent_p.L232L|PRPF3_ENST00000543398.1_Silent_p.L146L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	281					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGCCTACTCTGAAAGCCAATA	0.473000													9	28					0	0	0.411799	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202163981	202163981	+	Missense_Mutation	SNP	C	C	T	rs150075649		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202163981C>T	ENST00000405148.2	-	12	1365	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E308K|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E308K|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E308K	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	308					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTTCTCAGCTCTTCTAATTGC	0.368000													25	67					0	0	0.693898	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320827	79320827	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:79320827G>A	ENST00000428286.1	-	8	6486	c.5286C>T	c.(5284-5286)ctC>ctT	p.L1762L	PRUNE2_ENST00000376718.3_Silent_p.L2121L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCAAGCACTGAGGTGCTTCT	0.493000													55	80					0	0	0.870114	0	0
PMEL	6490	broad.mit.edu	37	12	56351375	56351375	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56351375G>A	ENST00000548747.1	-	6	1374	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	PMEL_ENST00000548493.1_Silent_p.L238L|PMEL_ENST00000360714.4_Silent_p.L238L|PMEL_ENST00000449260.2_Silent_p.L238L|PMEL_ENST00000539511.1_Silent_p.L152L|PMEL_ENST00000552882.1_Silent_p.L238L|PMEL_ENST00000536427.1_Silent_p.L238L|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.L152L			P40967	PMEL_HUMAN	premelanosome protein	238					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAAAGGTCAGAGGCTGATTT	0.562000													38	114					0	0	0.859065	0	0
SEC23B	10483	broad.mit.edu	37	20	18508212	18508212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18508212C>G	ENST00000336714.3	+	9	1498	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	SEC23B_ENST00000377475.3_Missense_Mutation_p.Q356E|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q356E|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q356E	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	356					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCCCTTGATCAAACTGGACT	0.408000													74	297					0	0	0.870114	0	0
PRMT2	3275	broad.mit.edu	37	21	48071903	48071903	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:48071903C>T	ENST00000334494.4	+	7	1007	c.840C>T	c.(838-840)ccC>ccT	p.P280P	PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000440086.1_Intron	NM_001242865.1	NP_001229794.1	P55345	ANM2_HUMAN	protein arginine methyltransferase 2	0					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)		TCTCCTGGCCCATCTTCCTAC	0.547000													5	35					0	0	0.184627	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373639	110373639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:110373639G>C	ENST00000356454.3	+	1	1729	c.1573G>C	c.(1573-1575)Ggg>Cgg	p.G525R		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	525																	CAATGTATTTGGGTAAAAATT	0.448000													14	18					0	0	0.457914	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	24					0	0	0.592651	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745953	5745953	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5745953C>A	ENST00000381624.3	+	9	748	c.687C>A	c.(685-687)ctC>ctA	p.L229L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	229						integral to membrane											ATCACCCCCTCAACCGGAGTT	0.537000													83	147					3.16549e-35	3.43881e-35	0.870114	1	0
TSC22D1	8848	broad.mit.edu	37	13	45010654	45010654	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:45010654C>T	ENST00000261489.2	-	1	327	c.111G>A	c.(109-111)gtG>gtA	p.V37V	TSC22D1_ENST00000458659.2_Intron|TSC22D1_ENST00000501704.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	832					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TATCAAGTCTCACAGAAGCGT	0.383000													54	71					0	0	0.870114	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627595	15627595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:15627595C>T	ENST00000338950.5	-	5	439	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	DTNBP1_ENST00000355917.3_Missense_Mutation_p.E112K|DTNBP1_ENST00000344537.5_Missense_Mutation_p.E112K	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	112					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCATGGATTCTAAGTCTGCG	0.453000									Hermansky-Pudlak syndrome				14	55					0	0	0.479597	0	0
GLI3	2737	broad.mit.edu	37	7	42007389	42007389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:42007389C>T	ENST00000395925.3	-	14	2320	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	746					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGGGGTTTCATCGATGGCA	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				25	114					0	0	0.693898	0	0
KIAA0100	9703	broad.mit.edu	37	17	26950907	26950907	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:26950907G>T	ENST00000528896.2	-	26	4904	c.4830C>A	c.(4828-4830)caC>caA	p.H1610Q	KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1467Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1467Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1610						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGCTGGATGGTGCTGGCACT	0.522000													8	173					0.000274275	0.000282634	0.307466	1	0
KCNA5	3741	broad.mit.edu	37	12	5154121	5154121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:5154121G>C	ENST00000252321.3	+	1	1037	c.808G>C	c.(808-810)Gag>Cag	p.E270Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	270						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTTCTGCTTGGAGACCCTGCC	0.657000													29	95					0	0	0.729181	0	0
DOK4	55715	broad.mit.edu	37	16	57508744	57508744	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57508744T>C	ENST00000566936.1	-	5	857	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	DOK4_ENST00000340099.4_Missense_Mutation_p.Y187C|DOK4_ENST00000569548.1_Missense_Mutation_p.Y187C			Q8TEW6	DOK4_HUMAN	docking protein 4	187	IRS-type PTB.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						ATCCCGGCCATAGCGGCGCAG	0.612000													12	35					0	0	0.500413	0	0
FBXW7	55294	broad.mit.edu	37	4	153244235	153244235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:153244235G>C	ENST00000281708.4	-	12	3151	c.1922C>G	c.(1921-1923)tCa>tGa	p.S641*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S561*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S641*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S523*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S465*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S641*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	641					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCATCATCTGAGCTGGTAAT	0.428000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								10	72					0	0	0.335167	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325679	21325679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:21325679G>C	ENST00000256958.2	+	3	276	c.180G>C	c.(178-180)gaG>gaC	p.E60D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	60					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GGAGATTTGAGATATCCTCTT	0.313000													4	17					0	0	0.184627	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882210	228882210	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228882210C>G	ENST00000392056.3	-	7	3406	c.3360G>C	c.(3358-3360)tcG>tcC	p.S1120S	SPHKAP_ENST00000344657.5_Silent_p.S1120S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1120						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACAGCTCGACTGCTTGG	0.542000													7	24					0	0	0.278610	0	0
NDUFB6	4712	broad.mit.edu	37	9	32553939	32553939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:32553939C>T	ENST00000379847.3	-	4	423	c.322G>A	c.(322-324)Gat>Aat	p.D108N	NDUFB6_ENST00000350021.2_Missense_Mutation_p.D93N|TOPORS-AS1_ENST00000458036.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	108					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	AGAATTGTATCACCCTAGGAA	0.333000													48	64					0	0	0.870114	0	0
DNAH7	56171	broad.mit.edu	37	2	196673469	196673469	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:196673469G>C	ENST00000312428.6	-	53	10120	c.10020C>G	c.(10018-10020)ttC>ttG	p.F3340L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3340					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATGGTTTTGAAGGCAGGCA	0.388000													38	94					0	0	0.870114	0	0
DNAH3	55567	broad.mit.edu	37	16	21082053	21082053	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:21082053T>A	ENST00000261383.3	-	22	3178	c.3179A>T	c.(3178-3180)aAa>aTa	p.K1060I	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1060I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1060	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTATTGGTTTGATGAATGG	0.433000													24	148					0	0	0.654019	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716949	222716949	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222716949C>G	ENST00000343410.6	-	2	962	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	302					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGATCTTTTCTACCTTCTTC	0.468000													84	231					0	0	0.870114	0	0
WDR48	57599	broad.mit.edu	37	3	39135489	39135489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135489G>A	ENST00000302313.5	+	18	1898	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	WDR48_ENST00000418020.1_Missense_Mutation_p.E66K|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.E349K|WDR48_ENST00000396258.3_Missense_Mutation_p.E542K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	624					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAACCAGGAGAACAGGAAAA	0.388000													9	25					0	0	0.335167	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975814	34975814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:34975814C>T	ENST00000361534.2	-	8	572	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	CRYZL1_ENST00000445393.1_Missense_Mutation_p.E83K|CRYZL1_ENST00000381554.3_Missense_Mutation_p.E121K|CRYZL1_ENST00000290244.5_Missense_Mutation_p.E106K|CRYZL1_ENST00000381540.3_Missense_Mutation_p.E121K|AP000304.12_ENST00000429238.1_Intron			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	121					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CCTGCTGCTTCCGTCCATGTG	0.443000													15	63					0	0	0.575678	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													4	88					0	0	0.248553	0	0
LYZL2	119180	broad.mit.edu	37	10	30901801	30901801	+	Silent	SNP	C	C	T	rs1054555		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:30901801C>T	ENST00000375318.2	-	4	521	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	109					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CACAGATAATCGCATCTGTGA	0.443000													8	89					0	0	0.500413	0	0
PVRL1	5818	broad.mit.edu	37	11	119545906	119545906	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:119545906G>A	ENST00000264025.3	-	5	1496	c.966C>T	c.(964-966)atC>atT	p.I322I	PVRL1_ENST00000341398.2_Silent_p.I322I|PVRL1_ENST00000340882.2_Silent_p.I322I	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	322	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGCGTGTACCGATGGGGTTGG	0.602000													11	28					0	0	0.387290	0	0
TESPA1	9840	broad.mit.edu	37	12	55356465	55356465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55356465G>A	ENST00000524622.1	-	7	1464	c.803C>T	c.(802-804)cCa>cTa	p.P268L	TESPA1_ENST00000532804.1_Missense_Mutation_p.P268L|TESPA1_ENST00000316577.8_Missense_Mutation_p.P406L|TESPA1_ENST00000449076.1_Missense_Mutation_p.P406L|TESPA1_ENST00000531122.1_Missense_Mutation_p.P268L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	406																	TATCTGAGCTGGGTCTGTGCT	0.507000													39	65					0	0	0.840704	0	0
SEC23B	10483	broad.mit.edu	37	20	18513307	18513307	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18513307G>C	ENST00000336714.3	+	11	1665		c.e11-1		SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTTGTTATAGACCTCTCGGG	0.413000													18	57					0	0	0.608945	0	0
ABCA5	23461	broad.mit.edu	37	17	67273900	67273900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:67273900G>C	ENST00000392676.3	-	19	2540	c.2476C>G	c.(2476-2478)Ctt>Gtt	p.L826V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L826V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L826V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	826					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTTTCAGAAAGAATAAGTAAG	0.363000													13	23					0	0	0.479597	0	0
NFKBIB	4793	broad.mit.edu	37	19	39399404	39399404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399404C>T	ENST00000313582.5	+	6	1037	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	335					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCACAGCAGCCGCAGCCAAAC	0.567000													38	85					0	0	0.870114	0	0
THOC1	9984	broad.mit.edu	37	18	226868	226868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:226868G>A	ENST00000261600.6	-	12	959	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	318					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGTGTCGACGAAAGTTACTG	0.343000													13	8					0	0	0.539581	0	0
MFSD8	256471	broad.mit.edu	37	4	128851881	128851881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:128851881C>T	ENST00000296468.3	-	10	1082	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.E274K	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	319					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACAACGGCTTCAACCCCAAGA	0.318000													49	124					0	0	0.870114	0	0
SCTR	6344	broad.mit.edu	37	2	120204358	120204358	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120204358C>G	ENST00000019103.5	-	11	1384	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	373					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGGCTAGTTCAAAAAACAGC	0.547000													21	57					0	0	0.592651	0	0
HYDIN	54768	broad.mit.edu	37	16	70942755	70942755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:70942755C>G	ENST00000393567.2	-	48	8164	c.8014G>C	c.(8014-8016)Gag>Cag	p.E2672Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2672										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGTCTGCTCCTCTTGAGCC	0.423000													19	35					0	0	0.608945	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963684	157963684	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157963684G>T	ENST00000359775.5	+	2	1202	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V105L			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	105						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTTCTTCTTTGTGATGGGGAC	0.607000													25	50					7.53681e-25	8.13855e-25	0.706142	1	0
OR2T11	127077	broad.mit.edu	37	1	248790334	248790334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:248790334G>C	ENST00000330803.2	-	1	157	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGGCCCCCAAGAAAACAGCAA	0.498000													41	81					0	0	0.827153	0	0
BPIFB3	359710	broad.mit.edu	37	20	31647285	31647285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:31647285C>G	ENST00000375494.3	+	3	383	c.383C>G	c.(382-384)tCt>tGt	p.S128C		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	128	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ATGCATTGCTCTGGGTGAGTG	0.602000													3	7					0	0	0.115264	0	0
TULP4	56995	broad.mit.edu	37	6	158924831	158924831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:158924831G>A	ENST00000367097.3	+	13	5493	c.4136G>A	c.(4135-4137)aGa>aAa	p.R1379K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1379					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTGGGGAGAGAGAAGAAG	0.493000													15	15					0	0	0.500413	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294990	55294990	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55294990G>A	ENST00000336077.6	+	7	910	c.870G>A	c.(868-870)gaG>gaA	p.E290E	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Splice_Site_p.E290E|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.E316E|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	290					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGAATAGCGAGGTAGGTACTC	0.532000													35	81					0	0	0.853193	0	0
VPS9D1	9605	broad.mit.edu	37	16	89777137	89777137	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:89777137C>G	ENST00000561976.1	-	9	1282	c.905G>C	c.(904-906)gGa>gCa	p.G302A	VPS9D1_ENST00000389386.3_Missense_Mutation_p.G372A					VPS9 domain containing 1																		GTCTGGCAATCCAGATGCGGT	0.726000													2	6					0	0	0.115264	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315235	73315235	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73315235T>C	ENST00000258098.6	-	3	1751	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	504					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTCTTGGCCTTTTCCTCCCC	0.592000													3	113					0	0	0.115264	0	0
DTNB	1838	broad.mit.edu	37	2	25803618	25803618	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803618G>A	ENST00000406818.3	-	7	930	c.681C>T	c.(679-681)ctC>ctT	p.L227L	DTNB_ENST00000496972.2_Silent_p.L170L|DTNB_ENST00000405222.1_Silent_p.L227L|DTNB_ENST00000407186.1_Silent_p.L227L|DTNB_ENST00000404103.3_Silent_p.L227L|DTNB_ENST00000545439.1_Silent_p.L23L|DTNB_ENST00000407661.3_Silent_p.L227L|DTNB_ENST00000407038.3_Silent_p.L227L|DTNB_ENST00000288642.8_Silent_p.L227L|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	227						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGTGCATGAGAGGTAGCC	0.398000													28	72					0	0	0.760397	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99364768C>T	ENST00000354593.2	-	3	437	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308000													16	35					0	0	0.575678	0	0
PVRL4	81607	broad.mit.edu	37	1	161044087	161044087	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:161044087G>C	ENST00000368012.3	-	6	1379	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	PVRL4_ENST00000453926.2_Silent_p.L93L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	359					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGAACAAGAGTGCGGCGA	0.602000													40	77					0	0	0.870114	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164149	32164149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:32164149G>A	ENST00000375023.3	-	29	5388	c.5250C>T	c.(5248-5250)gcC>gcT	p.A1750A	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1750					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAAGCGAGCGGGCGGCTCGGG	0.632000													36	93					0	0	0.870114	0	0
RYBP	23429	broad.mit.edu	37	3	72428484	72428484	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:72428484C>G	ENST00000477973.2	-	2	517	c.518G>C	c.(517-519)tGa>tCa	p.*173S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein		Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418000													16	79					0	0	0.539581	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802674	185802674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:185802674G>A	ENST00000302277.6	+	4	3145	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	851						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTAATAAGTGAAGACAAAAA	0.348000													9	31					0	0	0.361761	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376060	18376060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18376060C>T	ENST00000392413.4	-	3	2505	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	KIAA1683_ENST00000600359.3_Missense_Mutation_p.D718N|KIAA1683_ENST00000600328.3_Missense_Mutation_p.D764N	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCTGAGATCAGCAGCCTGG	0.657000													39	77					0	0	0.859065	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807129	33807129	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:33807129G>A	ENST00000260908.7	-	2	217	c.100C>T	c.(100-102)Cta>Tta	p.L34L	SLFN12L_ENST00000449046.1_Silent_p.L65L|SLFN12L_ENST00000361112.4_Silent_p.L63L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	66						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCCACATTTAGAACCAGCTCA	0.388000													9	30					0	0	0.335167	0	0
GCC2	9648	broad.mit.edu	37	2	109089346	109089346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109089346G>C	ENST00000309863.6	+	7	3565	c.2851G>C	c.(2851-2853)Gaa>Caa	p.E951Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	951					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAGTTGGAAGAAAAAATAGG	0.308000													9	22					0	0	0.307466	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974704	29974704	+	RNA	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:29974704G>A	ENST00000376797.3	-	0	1346				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							CCGTGAGTCTGAGGATGAAGA	0.677000													3	25					0	0	0.184627	0	0
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:174254744G>A	ENST00000296503.5	-	2	930	c.57C>T	c.(55-57)ttC>ttT	p.F19F	HMGB2_ENST00000438704.2_Silent_p.F19F|HMGB2_ENST00000446922.2_Silent_p.F19F			P26583	HMGB2_HUMAN	high mobility group box 2	19					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.F19F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582000													33	53					0	0	0.769981	0	0
ABCD3	5825	broad.mit.edu	37	1	94953306	94953306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953306C>T	ENST00000370214.4	+	12	1048	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.H269Y|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.H366Y	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	342	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGATTTGTCTCATCCTCGACA	0.358000													13	76					0	0	0.717897	0	0
ACBD7	414149	broad.mit.edu	37	10	15120550	15120550	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:15120550C>G	ENST00000356189.5	-	4	293	c.246G>C	c.(244-246)ctG>ctC	p.L82L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	82	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						ATTTTTCTATCAGCTCCTTTG	0.398000													21	93					0	0	0.693898	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797558	34797558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:34797558C>G	ENST00000338074.2	+	15	1978	c.1817C>G	c.(1816-1818)tCc>tGc	p.S606C	EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S497C|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S606C|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S532C|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S532C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	606					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGCAAGTGCTCCAGCATCACG	0.612000													17	42					0	0	0.539581	0	0
GALNT6	11226	broad.mit.edu	37	12	51759227	51759227	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51759227G>A	ENST00000543196.2	-	4	1006	c.801C>T	c.(799-801)ttC>ttT	p.F267F	GALNT6_ENST00000356317.3_Silent_p.F267F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	267	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCATCCAGGAACGTGAGCA	0.687000													4	51					0	0	0.184627	0	0
PURB	5814	broad.mit.edu	37	7	44924792	44924792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:44924792C>G	ENST00000395699.2	-	1	168	c.156G>C	c.(154-156)caG>caC	p.Q52H	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	52					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCTTGGCGTTCTGCTTCACAT	0.672000													5	26					0	0	0.184627	0	0
ATP2B4	493	broad.mit.edu	37	1	203696675	203696675	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:203696675G>A	ENST00000357681.5	+	20	4408	c.3285G>A	c.(3283-3285)cgG>cgA	p.R1095R	ATP2B4_ENST00000367218.3_Silent_p.R1095R|ATP2B4_ENST00000367219.3_Silent_p.R1083R|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Silent_p.R1059R|ATP2B4_ENST00000341360.2_Silent_p.R1095R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1095	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGGTTCCGGGGCCTGAACC	0.562000													39	69					0	0	0.870114	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740204	106740204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740204C>T	ENST00000299045.3	+	10	1630	c.1456C>T	c.(1456-1458)Ctc>Ttc	p.L486F		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	486										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CATTGTGAATCTCAACAAACA	0.453000													7	36					0	0	0.278610	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715388	222715388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222715388C>G	ENST00000343410.6	-	3	1142	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	362					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAAAGGGATCTCCAGCCTGT	0.532000													19	57					0	0	0.575678	0	0
ABCC1	4363	broad.mit.edu	37	16	16138333	16138333	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16138333C>T	ENST00000399408.2	+	8	1011	c.836C>T	c.(835-837)tCc>tTc	p.S279F	ABCC1_ENST00000345148.5_Missense_Mutation_p.S279F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S279F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S279F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S279F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S279F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	279					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTGTACTCCTCCAAGGATCCT	0.587000													10	49					0	0	0.387290	0	0
CADM2	253559	broad.mit.edu	37	3	86010672	86010672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:86010672G>A	ENST00000383699.3	+	8	1472	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R275Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R273Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	273	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATCCTGACCGAATGGTTGTG	0.413000													44	149					0	0	0.870114	0	0
FEZF2	55079	broad.mit.edu	37	3	62355901	62355901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:62355901C>G	ENST00000283268.3	-	5	1531	c.1237G>C	c.(1237-1239)Gac>Cac	p.D413H	FEZF2_ENST00000486811.1_Missense_Mutation_p.D413H|FEZF2_ENST00000475839.1_Missense_Mutation_p.D413H	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	413					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCTTCTTGTCGTTGTGGGTG	0.522000													36	131					0	0	0.827153	0	0
FAT3	120114	broad.mit.edu	37	11	92534006	92534006	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:92534006C>T	ENST00000298047.6	+	9	7844	c.7827C>T	c.(7825-7827)gtC>gtT	p.V2609V	FAT3_ENST00000525166.1_Silent_p.V2459V|FAT3_ENST00000409404.2_Silent_p.V2609V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2609	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCCAGTGTCAGGGCAGATG	0.468000										TCGA Ovarian(4;0.039)			10	10					0	0	0.435327	0	0
TRPM6	140803	broad.mit.edu	37	9	77397292	77397292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:77397292C>G	ENST00000451710.3	-	23	3432	c.3195G>C	c.(3193-3195)ttG>ttC	p.L1065F	TRPM6_ENST00000376864.4_Missense_Mutation_p.L1065F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1065F|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1060F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1060F|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1065					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAAAGCAATCAACAGGTTCA	0.363000													26	42					0	0	0.729181	0	0
FBXO28	23219	broad.mit.edu	37	1	224321837	224321837	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:224321837G>C	ENST00000366862.5	+	3	482	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	FBXO28_ENST00000424254.2_Missense_Mutation_p.E147Q	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGCTGCTGTTGAAACAAGGCT	0.358000													9	25					0	0	0.307466	0	0
OR5A2	219981	broad.mit.edu	37	11	59190322	59190322	+	Silent	SNP	G	G	C	rs142339235		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:59190322G>C	ENST00000302040.4	-	1	127	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCAGGAGGTAGAGCCCCAGAA	0.448000													9	39					0	0	0.307466	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325458	47325458	+	RNA	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:47325458C>T	ENST00000505841.1	-	0	1071					NR_002788.2																						CTCAGGTGTTCCCTGGGTACA	0.488000													15	84					0	0	0.575678	0	0
LYST	1130	broad.mit.edu	37	1	235894422	235894422	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:235894422C>T	ENST00000389794.3	-	35	9031	c.8857G>A	c.(8857-8859)Gaa>Aaa	p.E2953K	LYST_ENST00000389793.2_Missense_Mutation_p.E2953K|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2953					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTGGCCCTTCTGTTGGATCC	0.408000													21	35					0	0	0.608945	0	0
S100PBP	64766	broad.mit.edu	37	1	33292240	33292240	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292240G>A	ENST00000373475.5	+	3	794	c.540G>A	c.(538-540)gaG>gaA	p.E180E	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.E180E|S100PBP_ENST00000398243.3_Silent_p.E180E	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	180						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGGAGAAGAGATGAGAGAAG	0.448000													15	47					0	0	0.624587	0	0
PPIL4	85313	broad.mit.edu	37	6	149854672	149854672	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:149854672G>C	ENST00000253329.2	-	7	632	c.600C>G	c.(598-600)ttC>ttG	p.F200L		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	200					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCTTCCTTTGAAATCATCAA	0.323000													11	22					0	0	0.435327	0	0
PURA	5813	broad.mit.edu	37	5	139494469	139494469	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139494469G>T	ENST00000331327.3	+	1	762	c.703G>T	c.(703-705)Gtg>Ttg	p.V235L		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	235					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCGATGTGGGCTCCAA	0.597000													3	54					0.115264	0.116557	0.115264	1	0
FRMPD1	22844	broad.mit.edu	37	9	37746482	37746482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:37746482G>C	ENST00000539465.1	+	16	5046	c.4453G>C	c.(4453-4455)Gag>Cag	p.E1485Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1485Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1485						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCCCCGAAGAGATGCAGGG	0.637000													18	24					0	0	0.608945	0	0
SEC31B	25956	broad.mit.edu	37	10	102267742	102267742	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:102267742G>C	ENST00000370345.3	-	6	659	c.562C>G	c.(562-564)Cac>Gac	p.H188D	SEC31B_ENST00000370329.5_Missense_Mutation_p.H191D|SEC31B_ENST00000535773.1_Missense_Mutation_p.H31D|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Missense_Mutation_p.H188D|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	188					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACTGGGGTGAGCAGAAGAC	0.512000													80	88					0	0	0.870114	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913219	143913219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:143913219G>A	ENST00000409869.1	+	3	337	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.E54K			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	54					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAAGGTCACTGAACCTGTAAG	0.393000													19	58					0	0	0.608945	0	0
ANKHD1	54882	broad.mit.edu	37	5	139781720	139781720	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139781720C>T	ENST00000297183.6	+	1	292	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ANKHD1_ENST00000360839.2_Silent_p.V56V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V56V|ANKHD1_ENST00000394722.3_Silent_p.V56V|ANKHD1_ENST00000394723.3_Silent_p.V56V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGGAGTcggcagcagcg	0.766000													3	6					0	0	0.115264	0	0
POLR1A	25885	broad.mit.edu	37	2	86305287	86305287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:86305287C>T	ENST00000263857.6	-	10	1585	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	POLR1A_ENST00000409681.1_Missense_Mutation_p.D403N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	403					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATCTCGCTATCAAACACAATA	0.413000													18	47					0	0	0.557998	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417558	1417558	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:1417558G>A	ENST00000308647.7	+	6	671	c.555G>A	c.(553-555)gaG>gaA	p.E185E	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.E17E	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	185							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAAGAATGAGATGCTGCGAG	0.672000													4	23					0	0	0.150653	0	0
IQSEC3	440073	broad.mit.edu	37	12	176472	176472	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:176472C>G	ENST00000538872.1	+	1	542	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	IQSEC3_ENST00000326261.4_Missense_Mutation_p.L142V			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	142					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAAGCATCTGGGGACACA	0.697000													3	31					0	0	0.150653	0	0
CCR8	1237	broad.mit.edu	37	3	39374254	39374254	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374254G>A	ENST00000414803.1	+	3	330	c.259G>A	c.(259-261)Gag>Aag	p.E87K	CCR8_ENST00000545843.1_Silent_p.V61V|CCR8_ENST00000326306.4_Silent_p.V144V			P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	0					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCTAAAGGTGAGGACGATCA	0.502000													65	197					0	0	0.870114	0	0
POMK	84197	broad.mit.edu	37	8	42978000	42978000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:42978000C>A	ENST00000331373.5	+	5	1288	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	345																	CATGATGTCTCAGGCAAGAGA	0.493000													46	53					2.0833e-19	2.23181e-19	0.870114	1	0
RANBP3	8498	broad.mit.edu	37	19	5941640	5941640	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5941640G>C	ENST00000340578.6	-	5	455	c.398C>G	c.(397-399)tCa>tGa	p.S133*	RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.S133*|RANBP3_ENST00000591092.1_Nonsense_Mutation_p.S65*|RANBP3_ENST00000034275.8_Nonsense_Mutation_p.S65*	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	133					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTGACTGTGAGGGTGGGAA	0.468000													37	57					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179421783	179421783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179421783C>G	ENST00000589042.1	-	330	88322	c.88098G>C	c.(88096-88098)aaG>aaC	p.K29366N	TTN_ENST00000342992.6_Missense_Mutation_p.K26798N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K20426N|TTN_ENST00000460472.2_Missense_Mutation_p.K20301N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K20493N|TTN_ENST00000591111.1_Missense_Mutation_p.K27725N|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27725	Ig-like 134.						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)			AGCCTGTAATCTTGCTACCTC	0.443000													10	18					0	0	0.411799	0	0
PRDX2	7001	broad.mit.edu	37	19	12911834	12911834	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12911834G>A	ENST00000301522.2	-	3	281	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PRDX2_ENST00000334482.5_Silent_p.C51C|PRDX2_ENST00000435703.1_Silent_p.C51C|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	51	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCTCGGTGGGGCACACAAAAG	0.587000													6	31					0	0	0.248553	0	0
RBM43	375287	broad.mit.edu	37	2	152112060	152112060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:152112060G>C	ENST00000331426.5	-	2	352	c.201C>G	c.(199-201)ttC>ttG	p.F67L		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	67	RRM.						nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTTCTTTGAATATTACAT	0.294000													6	86					0	0	0.248553	0	0
LOC647323	647323	broad.mit.edu	37	3	193711438	193711438	+	RNA	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:193711438C>G	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TGCACCAATTCTTGCCCATGA	0.428000													3	12					0	0	0.115264	0	0
NFKBIB	4793	broad.mit.edu	37	19	39399438	39399438	+	Nonsense_Mutation	SNP	C	C	G	rs11551804		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399438C>G	ENST00000313582.5	+	6	1071	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	346					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCAGCCTCAAAACCTCTT	0.527000													35	79					0	0	0.840704	0	0
MGAT1	4245	broad.mit.edu	37	5	180219305	180219305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219305G>A	ENST00000446023.2	-	3	1417	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	MGAT1_ENST00000307826.4_Missense_Mutation_p.R223W|MGAT1_ENST00000393340.3_Missense_Mutation_p.R223W|MGAT1_ENST00000427865.2_Missense_Mutation_p.R223W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R223W	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	223			R -> Q (in dbSNP:rs7726005).		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGTGGCCCGAAAGTACTCG	0.667000													22	36					0	0	0.608945	0	0
TRPM1	4308	broad.mit.edu	37	15	31318357	31318357	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:31318357C>A	ENST00000542188.1	-	26	3978	c.3665G>T	c.(3664-3666)cGg>cTg	p.R1222L	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1205L|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1183L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1183					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGAAGTGACCCGGATGCGCTC	0.622000													14	38					2.31682e-05	2.40576e-05	0.479597	1	0
GID8	54994	broad.mit.edu	37	20	61574870	61574870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:61574870C>T	ENST00000266069.3	+	4	486	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_017896.2	NP_060366.1			GID complex subunit 8																		TCGAGCTGATCCGCCAGCGGG	0.622000													15	44					0	0	0.500413	0	0
INTS8	55656	broad.mit.edu	37	8	95850811	95850811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95850811C>G	ENST00000523731.1	+	8	1115	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	INTS8_ENST00000447247.1_Missense_Mutation_p.Q328E	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	328					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCATATAGTCAAGTCCATAT	0.413000													34	90					0	0	0.812448	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971486	34971486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971486G>A	ENST00000242315.3	+	2	273	c.191G>A	c.(190-192)gGa>gAa	p.G64E	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G64E|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	64							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCAGAAGCAGGAACCTCGGTG	0.652000													10	70					0	0	0.361761	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967512	49967512	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:49967512G>A	ENST00000293350.4	+	10	1486	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ALDH16A1_ENST00000455361.2_Silent_p.L390L|ALDH16A1_ENST00000540132.1_Silent_p.L278L|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.L276L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	441							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGCTGGAGCTGGGCTATGGGT	0.667000													5	14					0	0	0.217242	0	0
CFAP221	200373	broad.mit.edu	37	2	120413951	120413951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120413951C>G	ENST00000602047.1	+	25	2682	c.1570C>G	c.(1570-1572)Caa>Gaa	p.Q524E	PCDP1_ENST00000413369.3_Missense_Mutation_p.Q810E			Q4G0U5	PCDP1_HUMAN		810						cilium	calmodulin binding					Colorectal(110;0.196)					AGTGAAAGATCAAGCACAACC	0.488000													6	20					0	0	0.278610	0	0
COL1A2	1278	broad.mit.edu	37	7	94057029	94057029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94057029G>C	ENST00000297268.6	+	49	3829	c.3358G>C	c.(3358-3360)Gac>Cac	p.D1120H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1120					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTACAGGGCTGACCAGCCTCG	0.547000										HNSCC(75;0.22)			23	69					0	0	0.624587	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987050	7987050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7987050C>T	ENST00000221573.6	+	4	554	c.503C>T	c.(502-504)cCt>cTt	p.P168L	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	168					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAAATACCTAGCTCTGCC	0.642000													10	89					0	0	0.411799	0	0
MRPS22	56945	broad.mit.edu	37	3	139062950	139062950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139062950C>G	ENST00000495075.1	+	3	514	c.82C>G	c.(82-84)Cga>Gga	p.R28G	MRPS22_ENST00000310776.4_Missense_Mutation_p.R28G|MRPS22_ENST00000465056.1_Missense_Mutation_p.R28G			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	28						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTTCCGGGCTCGAATCCAGCC	0.617000													4	22					0	0	0.150653	0	0
BRCA1	672	broad.mit.edu	37	17	41246522	41246522	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:41246522C>G	ENST00000309486.4	-	9	1165	c.138G>C	c.(136-138)ctG>ctC	p.L46L	BRCA1_ENST00000346315.3_Silent_p.L342L|BRCA1_ENST00000471181.2_Silent_p.L342L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Silent_p.L295L|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Silent_p.L342L|BRCA1_ENST00000357654.3_Silent_p.L342L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	342					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATCAGCATTCAGATCTACCT	0.438000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			28	161					0	0	0.729181	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350698	134350698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:134350698G>A	ENST00000357304.4	+	15	3237	c.3182G>A	c.(3181-3183)aGa>aAa	p.R1061K	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1061							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTGGGGTCAGAGGACAGGCC	0.607000													5	22					0	0	0.184627	0	0
LHX3	8022	broad.mit.edu	37	9	139090906	139090906	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:139090906C>T	ENST00000371746.3	-	4	588		c.e4-1		LHX3_ENST00000371748.5_Splice_Site	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3						inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCCTCGGCCTCTGCGCGGCGG	0.776000													8	7					0	0	0.335167	0	0
BFSP2	8419	broad.mit.edu	37	3	133166243	133166243	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133166243G>A	ENST00000302334.2	+	2	661	c.572G>A	c.(571-573)aGa>aAa	p.R191K	BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	191	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTAAAGAGAGGTAATGTCTT	0.522000													13	22					0	0	0.479597	0	0
NPTX2	4885	broad.mit.edu	37	7	98256482	98256482	+	Silent	SNP	G	G	T	rs145736632	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:98256482G>T	ENST00000265634.3	+	4	1059	c.894G>T	c.(892-894)gcG>gcT	p.A298A		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	298	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACAGGTTGCGCAGCTGCCCC	0.632000													22	32					7.87624e-14	8.40443e-14	0.639603	1	0
C1orf127	148345	broad.mit.edu	37	1	11008902	11008902	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:11008902C>T	ENST00000377004.4	-	12	1290		c.e12-1		C1orf127_ENST00000377008.4_Splice_Site	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAAGCCCCTTCTTCACCAAGA	0.547000													14	34					0	0	0.479597	0	0
MTSS1	9788	broad.mit.edu	37	8	125579322	125579322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:125579322G>C	ENST00000518547.1	-	8	1189	c.716C>G	c.(715-717)tCa>tGa	p.S239*	MTSS1_ENST00000378017.3_Nonsense_Mutation_p.S239*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.S39*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.S129*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.S39*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.S243*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	239	IMD.|Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTTCACTTGAGGAGGGCAG	0.483000													3	56					0	0	0.115264	0	0
MGAT1	4245	broad.mit.edu	37	5	180219511	180219511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219511G>C	ENST00000446023.2	-	3	1211	c.461C>G	c.(460-462)tCc>tGc	p.S154C	MGAT1_ENST00000307826.4_Missense_Mutation_p.S154C|MGAT1_ENST00000393340.3_Missense_Mutation_p.S154C|MGAT1_ENST00000427865.2_Missense_Mutation_p.S154C|MGAT1_ENST00000333055.3_Missense_Mutation_p.S154C	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	154					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCCGTAGGAGGCGATGGC	0.662000													23	33					0	0	0.681144	0	0
ZBBX	79740	broad.mit.edu	37	3	167016138	167016138	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:167016138G>T	ENST00000392766.2	-	18	2174	c.1834C>A	c.(1834-1836)Cat>Aat	p.H612N	ZBBX_ENST00000455345.2_Missense_Mutation_p.H612N|ZBBX_ENST00000307529.5_Missense_Mutation_p.H612N|ZBBX_ENST00000392764.1_Missense_Mutation_p.H583N|ZBBX_ENST00000392767.2_Missense_Mutation_p.H612N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	612						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTAAACGATGAGAAGGAAGT	0.333000													14	66					1.52009e-12	1.61566e-12	0.479597	1	0
ST3GAL6	10402	broad.mit.edu	37	3	98489793	98489793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:98489793C>G	ENST00000394162.1	+	4	627	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	ST3GAL6_ENST00000468553.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000462152.1_Intron	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	54					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TTTTGCCTCTCTGCTGAGGTA	0.353000													7	41					0	0	0.278610	0	0
RNF19A	25897	broad.mit.edu	37	8	101271310	101271310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101271310G>A	ENST00000519449.1	-	11	2307	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S664F|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	664	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCTTCTTTGGACCACTTGGT	0.473000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	101					0	0	0.819951	0	0
KCNIP3	30818	broad.mit.edu	37	2	96047361	96047361	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96047361C>T	ENST00000295225.5	+	6	600	c.465C>T	c.(463-465)ctC>ctT	p.L155L	KCNIP3_ENST00000468529.1_Silent_p.L129L|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.L133L	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	155	EF-hand 2.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGTTGGCCTCTCCATCCTGC	0.522000													17	38					0	0	0.624587	0	0
RASA4	10156	broad.mit.edu	37	7	102257104	102257104	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:102257104G>A	ENST00000262940.7	-	1	100	c.33C>T	c.(31-33)atC>atT	p.I11I	RASA4_ENST00000462172.1_5'UTR|RASA4_ENST00000449970.2_Silent_p.I11I|RP11-514P8.6_ENST00000519541.1_Intron	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	11	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCCCCTCCACGATGCGGATGT	0.731000													3	28					0	0	0.184627	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29453426	29453426	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:29453426C>A	ENST00000283351.4	-	14	2364	c.2029G>T	c.(2029-2031)Gtt>Ttt	p.V677F	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.V623F	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	677					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAAAAAAAACCCGTGTTGCT	0.373000													7	38					0.0381472	0.0387198	0.278610	1	0
ZCCHC3	85364	broad.mit.edu	37	20	279262	279262	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:279262G>C	ENST00000382352.3	+	1	1526	c.1035G>C	c.(1033-1035)atG>atC	p.M345I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	345							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCCACATGAGCGGCAGCT	0.637000													23	80					0	0	0.667858	0	0
GRHL3	57822	broad.mit.edu	37	1	24673086	24673086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24673086G>C	ENST00000361548.4	+	13	1728	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	GRHL3_ENST00000350501.5_Missense_Mutation_p.E500Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.E454Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E407Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.E505Q	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	500					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAGGAGTTTGAGCCTCTGCC	0.622000													11	35					0	0	0.411799	0	0
PIK3CD	5293	broad.mit.edu	37	1	9775796	9775796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:9775796C>G	ENST00000536656.1	+	4	547	c.339C>G	c.(337-339)atC>atG	p.I113M	PIK3CD_ENST00000361110.2_Missense_Mutation_p.I113M|PIK3CD_ENST00000377346.4_Missense_Mutation_p.I113M			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	113					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGAAGCTCATCAACTCACAGA	0.677000													17	54					0	0	0.624587	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44630810	44630810	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:44630810C>T	ENST00000576629.1	+	12	5349	c.4854C>T	c.(4852-4854)ttC>ttT	p.F1618F	ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.F1618F|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1618						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGAAGGATTCTCAAGGTAAA	0.398000													21	155					0	0	0.706142	0	0
KIAA0196	9897	broad.mit.edu	37	8	126090994	126090994	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:126090994C>G	ENST00000318410.7	-	6	1046	c.697G>C	c.(697-699)Gat>Cat	p.D233H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D85H	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	233					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGTAAATATCATCAGATCTC	0.398000													22	63					0	0	0.639603	0	0
CCDC43	124808	broad.mit.edu	37	17	42759437	42759437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:42759437G>C	ENST00000315286.8	-	3	370	c.362C>G	c.(361-363)tCa>tGa	p.S121*	CCDC43_ENST00000588210.1_Nonsense_Mutation_p.S121*|CCDC43_ENST00000457422.2_Nonsense_Mutation_p.S121*|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	121										lung(2)	2		Prostate(33;0.0322)				CTCCTCTTCTGACACCATCCT	0.498000													24	103					0	0	0.654019	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444194	26444194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444194C>G	ENST00000244519.2	+	4	338	c.95C>G	c.(94-96)tCt>tGt	p.S32C	BTN3A3_ENST00000339789.4_5'UTR|BTN3A3_ENST00000361232.3_5'UTR	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	32	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTCAGTTTTCTGTGCTTGGA	0.577000													15	44					0	0	0.520397	0	0
ACE	1636	broad.mit.edu	37	17	61564428	61564428	+	Missense_Mutation	SNP	G	G	C	rs148995315		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:61564428G>C	ENST00000577647.1	+	4	622	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	ACE_ENST00000290866.4_Missense_Mutation_p.E767Q|ACE_ENST00000490216.2_Missense_Mutation_p.E193Q|ACE_ENST00000421982.2_Missense_Mutation_p.E77Q|ACE_ENST00000413513.3_Missense_Mutation_p.E193Q|ACE_ENST00000428043.1_Missense_Mutation_p.E767Q|ACE_ENST00000290863.6_Missense_Mutation_p.E193Q			P12821	ACE_HUMAN	angiotensin I converting enzyme	767	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGCAGCTCGAGCCAGGTGA	0.617000													20	42					0	0	0.575678	0	0
TIAM1	7074	broad.mit.edu	37	21	32519296	32519296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519296G>A	ENST00000286827.3	-	21	3863	c.3392C>T	c.(3391-3393)tCa>tTa	p.S1131L	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1071L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1131	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATACAGGAATGATCCCCCCAG	0.502000													15	34					0	0	0.520397	0	0
PCDH18	54510	broad.mit.edu	37	4	138451064	138451064	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:138451064C>T	ENST00000344876.4	-	1	2565	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E507K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E727K|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	727					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTTCTTCTCGCGGTTACAC	0.458000													18	45					0	0	0.539581	0	0
FAR1	84188	broad.mit.edu	37	11	13732282	13732282	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732282G>A	ENST00000354817.3	+	5	732	c.588G>A	c.(586-588)ttG>ttA	p.L196L	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	196					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CGCCAAAATTGATAGGAGACA	0.333000													18	176					0	0	0.592651	0	0
TBCEL	219899	broad.mit.edu	37	11	120918374	120918374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:120918374G>A	ENST00000422003.2	+	3	459	c.271G>A	c.(271-273)Gag>Aag	p.E91K	TBCEL_ENST00000529397.1_Missense_Mutation_p.E91K	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	91						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AGACTGGCATGAGGTGAAGTT	0.368000													8	11					0	0	0.307466	0	0
FAM46B	115572	broad.mit.edu	37	1	27332971	27332971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27332971C>T	ENST00000289166.5	-	2	907	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	248								p.E247K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TACAGGCTTTCGCCTGTGACC	0.622000													9	19					0	0	0.361761	0	0
UBN1	29855	broad.mit.edu	37	16	4924679	4924679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924679G>C	ENST00000396658.4	+	14	2971	c.2268G>C	c.(2266-2268)gaG>gaC	p.E756D	UBN1_ENST00000262376.6_Missense_Mutation_p.E756D|UBN1_ENST00000590769.1_Missense_Mutation_p.E756D|UBN1_ENST00000545171.1_Missense_Mutation_p.E756D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	756					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAAACCAGAGAGTTCTGGCT	0.552000													17	58					0	0	0.557998	0	0
CDH18	1016	broad.mit.edu	37	5	19591215	19591215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:19591215G>A	ENST00000507958.1	-	9	1940	c.950C>T	c.(949-951)tCa>tTa	p.S317L	CDH18_ENST00000511273.1_Missense_Mutation_p.S317L|CDH18_ENST00000502796.1_Missense_Mutation_p.S317L|CDH18_ENST00000382275.1_Missense_Mutation_p.S317L|CDH18_ENST00000506372.1_Missense_Mutation_p.S317L|CDH18_ENST00000274170.4_Missense_Mutation_p.S317L			Q13634	CAD18_HUMAN	cadherin 18, type 2	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGGAGATTGAGAATATTCC	0.408000													10	129					0	0	0.361761	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1893769	1893769	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:1893769C>G	ENST00000518288.1	+	28	3580	c.3417C>G	c.(3415-3417)ctC>ctG	p.L1139L	ARHGEF10_ENST00000262112.6_Silent_p.L1111L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.L1115L|ARHGEF10_ENST00000398564.1_Silent_p.L1140L|ARHGEF10_ENST00000520359.1_Silent_p.L1077L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1140					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGGAAACTCTCAAGCACCTGC	0.617000													18	38					0	0	0.575678	0	0
DDX5	1655	broad.mit.edu	37	17	62499953	62499953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:62499953G>A	ENST00000225792.5	-	5	876	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	DDX5_ENST00000578804.1_Nonsense_Mutation_p.Q159*|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	159	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGGAATGGCTGATGATTGATG	0.333000			T	ETV4	prostate								13	64					0	0	0.520397	0	0
C2CD5	9847	broad.mit.edu	37	12	22659717	22659717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:22659717C>T	ENST00000333957.4	-	10	1330	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R	C2CD5_ENST00000536386.1_Missense_Mutation_p.G361R|C2CD5_ENST00000396028.2_Missense_Mutation_p.G350R|C2CD5_ENST00000545552.1_Missense_Mutation_p.G350R|C2CD5_ENST00000542676.1_Missense_Mutation_p.G359R|C2CD5_ENST00000544930.1_Missense_Mutation_p.G152R|C2CD5_ENST00000446597.1_Missense_Mutation_p.G359R	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		ACAAGGAATCCAGGAGGAAAT	0.373000													16	65					0	0	0.539581	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185099	48185099	+	Silent	SNP	C	C	T	rs2229704		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:48185099C>T	ENST00000418331.2	+	23	4000	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1216	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTGCTCATCAACTTCCGGT	0.547000													28	64					0	0	0.729181	0	0
RP1	6101	broad.mit.edu	37	8	55538439	55538439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:55538439C>T	ENST00000220676.1	+	4	2145	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	666					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGATTTTGTCATCTGTTGCC	0.348000													10	23					0	0	0.361761	0	0
ABCD3	5825	broad.mit.edu	37	1	94953342	94953342	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953342C>G	ENST00000370214.4	+	12	1084	c.1060C>G	c.(1060-1062)Cta>Gta	p.L354V	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.L281V|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000454898.2_Missense_Mutation_p.L378V	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	354	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCGGAACTTCTAGAGGTAAA	0.333000													5	47					0	0	0.575678	0	0
KATNB1	10300	broad.mit.edu	37	16	57789144	57789144	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789144C>T	ENST00000379661.3	+	15	1802	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	470	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCTCCGACTTCCTGCCCGTGA	0.662000													3	13					0	0	0.184627	0	0
TDRD6	221400	broad.mit.edu	37	6	46660831	46660831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660831G>A	ENST00000544460.1	+	1	5220	c.4966G>A	c.(4966-4968)Gaa>Aaa	p.E1656K	TDRD6_ENST00000316081.6_Missense_Mutation_p.E1656K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1656					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTATTTCTATGAAATAATAAC	0.363000													12	46					0	0	0.435327	0	0
MARK4	57787	broad.mit.edu	37	19	45767943	45767943	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45767943G>A	ENST00000300843.4	+	5	654	c.357G>A	c.(355-357)gtG>gtA	p.V119V	MARK4_ENST00000262891.4_Splice_Site_p.V119V	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	119	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCATTATAGTGAAGCTCTTTG	0.552000													38	91					0	0	0.859065	0	0
FGA	2243	broad.mit.edu	37	4	155507290	155507290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:155507290C>T	ENST00000302053.3	-	5	1369	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	FGA_ENST00000403106.3_Missense_Mutation_p.E431K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	431					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGTTTTTCTGTGTGGTAC	0.507000													37	106					0	0	0.827153	0	0
EPB41	2035	broad.mit.edu	37	1	29319848	29319848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319848C>G	ENST00000343067.4	+	3	602	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	EPB41_ENST00000373798.1_Missense_Mutation_p.Q159E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q159E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q159E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q159E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q159E|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	159					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTAGCCTGCTCAGGAAGAACT	0.358000													53	133					0	0	0.870114	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396370	43396370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:43396370G>A	ENST00000426263.3	-	4	621	c.443C>T	c.(442-444)tCa>tTa	p.S148L	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S148L|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	148					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCTGTGGGTGACACTTCACC	0.622000													6	16					0	0	0.217242	0	0
PKHD1	5314	broad.mit.edu	37	6	51889923	51889923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:51889923G>A	ENST00000371117.3	-	32	4960	c.4685C>T	c.(4684-4686)tCt>tTt	p.S1562F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1562F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1562	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACATTACCAGAACAAGCATA	0.428000													17	31					0	0	0.500413	0	0
PISD	23761	broad.mit.edu	37	22	32017073	32017073	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32017073G>C	ENST00000382151.2	-	6	1070	c.651C>G	c.(649-651)ctC>ctG	p.L217L	PISD_ENST00000266095.5_Silent_p.L217L|PISD_ENST00000439502.2_Silent_p.L251L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L217L|PISD_ENST00000336566.4_Silent_p.L250L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	251					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CACAGTGATAGAGCTCATTCC	0.627000											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	77					0	0	0.706142	0	0
ESX1	80712	broad.mit.edu	37	X	103499060	103499060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:103499060G>A	ENST00000372588.4	-	2	364	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	94					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGTTGCTCCGGCTTGGTCAG	0.716000													27	33					0	0	0.750413	0	0
FAM120C	54954	broad.mit.edu	37	X	54162953	54162953	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:54162953G>C	ENST00000375180.2	-	5	1285	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C	FAM120C_ENST00000328235.4_Missense_Mutation_p.S410C	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	410										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCAGCGAAGAGAGTTTGGT	0.463000													15	45					0	0	0.520397	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78346479	78346479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:78346479C>T	ENST00000409931.3	-	2	482	c.411G>A	c.(409-411)aaG>aaA	p.K137K	TBC1D2B_ENST00000300584.3_Silent_p.K137K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	137	PH.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATTCCCATCTCTTCTGCTGAA	0.468000													12	45					0	0	0.435327	0	0
KATNB1	10300	broad.mit.edu	37	16	57789809	57789809	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789809G>C	ENST00000379661.3	+	17	2015	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	541	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TGGACCTCCTGAACATCGTCA	0.642000													17	40					0	0	0.608945	0	0
RIOK3	8780	broad.mit.edu	37	18	21044494	21044494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:21044494C>G	ENST00000339486.3	+	5	1062	c.445C>G	c.(445-447)Ccc>Gcc	p.P149A	RIOK3_ENST00000577501.1_Missense_Mutation_p.P149A|RIOK3_ENST00000581585.1_Missense_Mutation_p.P133A	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	149					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACCGGTTCCCACTCCTAA	0.363000													35	24					0	0	0.796494	0	0
PRDM2	7799	broad.mit.edu	37	1	14104976	14104976	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:14104976A>T	ENST00000235372.7	+	8	1542	c.686A>T	c.(685-687)gAg>gTg	p.E229V	PRDM2_ENST00000413440.1_Missense_Mutation_p.E28V|PRDM2_ENST00000343137.4_Missense_Mutation_p.E28V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E229V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	229						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTCCAGGAGGTGGCCAGT	0.582000													13	100					0	0	0.435327	0	0
IL21R	50615	broad.mit.edu	37	16	27460069	27460069	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:27460069C>G	ENST00000337929.3	+	9	1555	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	IL21R_ENST00000395754.4_Nonsense_Mutation_p.S361*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.S361*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.S361*|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	361					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCGGGGGGCTCAGCTTACAGT	0.617000			T	BCL6	NHL								13	64					0	0	0.557998	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587005	86587005	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:86587005G>A	ENST00000376263.3	-	11	968	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	HNRNPK_ENST00000376264.2_Missense_Mutation_p.R249C|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R249C|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R249C|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R249C	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	249	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.|RNA-binding RGG-box.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCACTGGGCGTCCGCGACGG	0.498000													35	43					0	0	0.804634	0	0
POMT2	29954	broad.mit.edu	37	14	77772681	77772681	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:77772681C>G	ENST00000261534.4	-	3	639	c.437G>C	c.(436-438)gGa>gCa	p.G146A	POMT2_ENST00000556880.1_5'UTR	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	146					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGCCTTACTCCTCTCATTCC	0.483000													12	35					0	0	0.411799	0	0
MYLPF	29895	broad.mit.edu	37	16	30388008	30388008	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30388008C>G	ENST00000322861.7	+	5	426	c.345C>G	c.(343-345)atC>atG	p.I115M		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	115	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			AGGGCACCATCAAGAAGAAGT	0.582000													3	19					0	0	0.115264	0	0
ARID1A	8289	broad.mit.edu	37	1	27100195	27100195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27100195C>T	ENST00000324856.7	+	16	4362	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1331*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q948*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1331	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1331*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcagcagcagcagca	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								38	87					0	0	0.812448	0	0
RUSC2	9853	broad.mit.edu	37	9	35546546	35546546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:35546546G>C	ENST00000455600.1	+	2	597	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	10						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)			GCTGACTGGAGAGACCCTCAT	0.562000													68	87					0	0	0.870114	0	0
PTPN13	5783	broad.mit.edu	37	4	87694009	87694009	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:87694009G>A	ENST00000436978.1	+	32	5742	c.5262G>A	c.(5260-5262)tcG>tcA	p.S1754S	PTPN13_ENST00000511467.1_Silent_p.S1754S|PTPN13_ENST00000411767.2_Silent_p.S1749S|PTPN13_ENST00000427191.2_Silent_p.S1730S|PTPN13_ENST00000316707.6_Silent_p.S1558S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1749						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTCTAGTTCGATGGATAAGT	0.408000													18	98					0	0	0.520397	0	0
CAPN3	825	broad.mit.edu	37	15	42703970	42703970	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:42703970G>C	ENST00000397163.3	+	24	2684	c.2465G>C	c.(2464-2466)tGa>tCa	p.*822S	CAPN3_ENST00000569136.1_Nonstop_Mutation_p.*157S|CAPN3_ENST00000561817.1_Intron|CAPN3_ENST00000397204.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000349748.3_Nonstop_Mutation_p.*730S|CAPN3_ENST00000318023.7_Nonstop_Mutation_p.*816S|CAPN3_ENST00000357568.3_Nonstop_Mutation_p.*816S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000356316.3_Nonstop_Mutation_p.*729S|CAPN3_ENST00000397200.4_Nonstop_Mutation_p.*310S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	0					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGTATGCCTGAACCAGGCTG	0.517000													6	49					0	0	0.278610	0	0
EMX1	2016	broad.mit.edu	37	2	73160999	73160999	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73160999G>A	ENST00000258106.6	+	3	1167	c.789G>A	c.(787-789)aaG>aaA	p.K263K	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K263K(1)		cervix(1)|large_intestine(2)|lung(3)	6						AGCAGAAGAAGAAGGGCTCCC	0.582000													10	41					0	0	0.387290	0	0
EP400	57634	broad.mit.edu	37	12	132502128	132502128	+	Silent	SNP	C	C	T	rs138508770		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132502128C>T	ENST00000333577.4	+	21	4189	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	EP400_ENST00000389561.2_Silent_p.I1324I|EP400_ENST00000332482.4_Silent_p.I1287I|EP400_ENST00000389562.2_Silent_p.I1323I|EP400_ENST00000330386.6_Silent_p.I1324I			Q96L91	EP400_HUMAN	E1A binding protein p400	1360	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTGAGCATCCTTGTGCGGC	0.607000													28	59					0	0	0.740014	0	0
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55107923C>T	ENST00000251372.3	+	7	1410	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	410	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612000													38	108					0	0	0.870114	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239209	6239209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:6239209C>T	ENST00000265978.4	-	9	2007	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R536Q|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R536Q	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	536					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTAGGCCGTCGGCCAGGGCT	0.657000													9	34					0	0	0.307466	0	0
CACNA1A	773	broad.mit.edu	37	19	13340984	13340984	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:13340984C>G	ENST00000360228.5	-	36	5439	c.5440G>C	c.(5440-5442)Gag>Cag	p.E1814Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1815Q|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1815					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTGAGGTACTCAAAGTTGTCC	0.577000													4	34					0	0	0.217242	0	0
SETD3	84193	broad.mit.edu	37	14	99871626	99871626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:99871626C>T	ENST00000331768.5	-	10	1166	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	336					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TATTTTCACTCTGTCGTGTGA	0.438000													29	62					0	0	0.706142	0	0
EAPP	55837	broad.mit.edu	37	14	35008795	35008795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:35008795C>T	ENST00000250454.3	-	1	121	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	14					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTAGGCTCTTCAACCGCGTAG	0.627000													6	26					0	0	0.278610	0	0
CCNF	899	broad.mit.edu	37	16	2495468	2495468	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2495468G>A	ENST00000397066.4	+	10	1027	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	313	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGTACATTCTGATCGACTGGC	0.592000													17	92					0	0	0.639603	0	0
POMGNT2	84892	broad.mit.edu	37	3	43121671	43121671	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:43121671T>C	ENST00000344697.2	-	2	1598	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	POMGNT2_ENST00000441964.1_Missense_Mutation_p.D418G	NM_032806.5	NP_116195.2			protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)																		CTCAGCCCGGTCCAGATGGGT	0.612000													6	24					0	0	0.278610	0	0
GCC2	9648	broad.mit.edu	37	2	109087226	109087226	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109087226G>C	ENST00000309863.6	+	6	2155	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	481					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTAAATTATGAGAGTTTACG	0.333000													16	48					0	0	0.520397	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183791	11183791	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:11183791G>C	ENST00000390675.2	-	1	215	c.144C>G	c.(142-144)ctC>ctG	p.L48L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	48					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CCAGAGCAGTGAGAATCTGGT	0.368000													16	71					0	0	0.557998	0	0
FMO3	2328	broad.mit.edu	37	1	171076861	171076861	+	Missense_Mutation	SNP	G	G	A	rs113006768		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:171076861G>A	ENST00000367755.4	+	4	478	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	FMO3_ENST00000392085.2_Missense_Mutation_p.G123S|FMO3_ENST00000542847.1_Missense_Mutation_p.G103S|FMO3_ENST00000538429.1_Missense_Mutation_p.G60S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCAACTACTGGCCAGTGGGA	0.403000													25	64					0	0	0.740014	0	0
PIK3CG	5294	broad.mit.edu	37	7	106545575	106545575	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:106545575C>G	ENST00000359195.3	+	11	3362	c.3052C>G	c.(3052-3054)Cta>Gta	p.L1018V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.L1018V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L1018V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1018	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAAGGCTTATCTAGCCCTTCG	0.398000													41	136					0	0	0.870114	0	0
RNASEL	6041	broad.mit.edu	37	1	182555827	182555827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:182555827C>G	ENST00000367559.3	-	2	368	c.115G>C	c.(115-117)Gac>Cac	p.D39H	RNASEL_ENST00000444138.1_Missense_Mutation_p.D39H|RNASEL_ENST00000539397.1_Missense_Mutation_p.D39H	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	39					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGGACCAGGTCAACATCTTCG	0.512000													30	119					0	0	0.760397	0	0
S100PBP	64766	broad.mit.edu	37	1	33291827	33291827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33291827G>A	ENST00000373475.5	+	3	381	c.127G>A	c.(127-129)Gag>Aag	p.E43K	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E43K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E43K	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	43						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGAGCTGTCAGAGGGAGAAGA	0.468000													35	136					0	0	0.804634	0	0
ADH6	130	broad.mit.edu	37	4	100129920	100129920	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:100129920G>C	ENST00000394897.1	-	6	815	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.Q36E|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.Q245E|ADH6_ENST00000394899.2_Missense_Mutation_p.Q245E			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	245					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTTAAGTCCTGAGGGTTGAGG	0.438000													53	257					0	0	0.870114	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113462	34113462	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:34113462A>G	ENST00000341394.4	+	15	1753	c.1564A>G	c.(1564-1566)Atg>Gtg	p.M522V	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M522V|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M522V|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M441V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M522V	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	522					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTGTTCAATATGAATGCCCC	0.373000													15	52					0	0	0.557998	0	0
VILL	50853	broad.mit.edu	37	3	38043072	38043072	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043072G>T	ENST00000283713.6	+	12	1574	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	VILL_ENST00000383759.2_Silent_p.L436L|VILL_ENST00000465644.1_Silent_p.L154L			O15195	VILL_HUMAN	villin-like	436					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGTACATCCTGTACCTATGGC	0.607000													16	96					1.33834e-09	1.41414e-09	0.557998	1	0
TLL2	7093	broad.mit.edu	37	10	98155044	98155044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155044C>G	ENST00000357947.3	-	13	1851	c.1626G>C	c.(1624-1626)gaG>gaC	p.E542D	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	542	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCCGGCTTCTCATAGCCAC	0.502000													11	32					0	0	0.864702	0	0
MBTPS1	8720	broad.mit.edu	37	16	84135328	84135328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84135328G>C	ENST00000343411.3	-	2	556	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	21					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTCGCCCAGATGTTTCTTC	0.438000													39	81					0	0	0.870114	0	0
VSIG8	391123	broad.mit.edu	37	1	159827692	159827692	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:159827692C>A	ENST00000368100.1	-	4	630	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	165	Ig-like V-type 2.					integral to membrane		p.L165L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CATAGCACTTCAGCACCACAT	0.592000													11	38					0.00010058	0.000104042	0.411799	1	0
C6orf203	51250	broad.mit.edu	37	6	107365503	107365503	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107365503G>A	ENST00000443043.1	+	4	1200	c.525G>A	c.(523-525)ctG>ctA	p.L175L	C6orf203_ENST00000311381.5_Silent_p.L170L|C6orf203_ENST00000405204.2_Silent_p.L170L	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	170										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AACTCAGGCTGAATGAGGAAA	0.383000													28	53					0	0	0.760397	0	0
TANGO6	79613	broad.mit.edu	37	16	68909058	68909058	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:68909058G>A	ENST00000261778.1	+	5	1008	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTGTGCCAGCGGGAGCAGCTG	0.468000													17	50					0	0	0.624587	0	0
GRIK3	2899	broad.mit.edu	37	1	37319267	37319267	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:37319267C>T	ENST00000373091.3	-	8	1177	c.1161G>A	c.(1159-1161)cgG>cgA	p.R387R	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.R387R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	387					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAAAATCCGTCCGCAAGCCAC	0.547000													24	67					0	0	0.639603	0	0
REC8	9985	broad.mit.edu	37	14	24647296	24647296	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:24647296G>C	ENST00000311457.3	+	13	1460		c.e13-1		REC8_ENST00000559919.1_Splice_Site			O95072	REC8_HUMAN	REC8 meiotic recombination protein						mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCACTCAACAGAGGAGGCCCC	0.622000													16	49					0	0	0.575678	0	0
SMAD3	4088	broad.mit.edu	37	15	67473650	67473650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67473650G>A	ENST00000327367.4	+	6	1040	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	SMAD3_ENST00000537194.2_Missense_Mutation_p.V49I|SMAD3_ENST00000439724.3_Missense_Mutation_p.V200I|SMAD3_ENST00000540846.2_Missense_Mutation_p.V139I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	244	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GAACCAGCGCGTCGGGGAGAC	0.607000													8	52					0	0	0.335167	0	0
EHD2	30846	broad.mit.edu	37	19	48244215	48244215	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:48244215G>A	ENST00000263277.3	+	6	1409	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	EHD2_ENST00000538399.1_Silent_p.L250L|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	386					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGAGATGCTGACGCACGACA	0.647000													22	31					0	0	0.667858	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75728668	75728668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:75728668G>A	ENST00000312442.2	+	1	206	c.160G>A	c.(160-162)Gac>Aac	p.D54N	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.D54N|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	54						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TCCCGCGGCCGACATGAAATA	0.473000											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	46					0	0	0.500413	0	0
LYZL2	119180	broad.mit.edu	37	10	30901786	30901786	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:30901786C>G	ENST00000375318.2	-	4	536	c.480G>C	c.(478-480)aaG>aaC	p.K160N		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	114					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TAACAATTTTCTTGGCACAGA	0.443000													8	91					0	0	0.520397	0	0
KCNN1	3780	broad.mit.edu	37	19	18099287	18099287	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18099287G>A	ENST00000222249.9	+	7	1442	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CACCAAGGCTGAGAAGCACGT	0.637000													7	16					0	0	0.307466	0	0
ANK2	287	broad.mit.edu	37	4	114274832	114274832	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:114274832G>T	ENST00000357077.4	+	38	5111	c.5058G>T	c.(5056-5058)gaG>gaT	p.E1686D	ANK2_ENST00000264366.6_Missense_Mutation_p.E1653D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1653					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCAGATGAGACACAGAGTA	0.443000													3	46					0.115264	0.116557	0.115264	1	0
SSBP3	23648	broad.mit.edu	37	1	54692805	54692805	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:54692805C>T	ENST00000371320.3	-	18	1576	c.1166G>A	c.(1165-1167)tGa>tAa	p.*389*	SSBP3_ENST00000371319.3_Silent_p.*362*|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Silent_p.*369*|SSBP3_ENST00000417664.2_Silent_p.*279*	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						AAGGGGGGATCACACACTCAT	0.567000													52	193					0	0	0.870114	0	0
ABHD8	79575	broad.mit.edu	37	19	17411697	17411697	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:17411697C>T	ENST00000247706.3	-	2	968	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	243							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CATTTCGCTTCTTGGCATAGC	0.597000													36	150					0	0	0.834066	0	0
VILL	50853	broad.mit.edu	37	3	38043288	38043288	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043288G>A	ENST00000283713.6	+	13	1682	c.1416G>A	c.(1414-1416)gtG>gtA	p.V472V	VILL_ENST00000383759.2_Silent_p.V472V|VILL_ENST00000465644.1_Silent_p.V190V			O15195	VILL_HUMAN	villin-like	472					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGAGCATGTGACCATGGGCA	0.607000													10	68					0	0	0.411799	0	0
UNC93A	54346	broad.mit.edu	37	6	167709658	167709658	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:167709658G>A	ENST00000230256.3	+	3	583	c.408G>A	c.(406-408)caG>caA	p.Q136Q	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Silent_p.Q136Q	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	136						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGTGAACCAGTATTTTGGCA	0.537000													28	116					0	0	0.779181	0	0
ATP11B	23200	broad.mit.edu	37	3	182566341	182566341	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:182566341G>C	ENST00000323116.5	+	10	1107	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	283					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCTGCAGTAGAAAAGTAAGA	0.249000													13	35					0	0	0.435327	0	0
DUSP2	1844	broad.mit.edu	37	2	96809649	96809649	+	Silent	SNP	G	G	A	rs147952657	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96809649G>A	ENST00000288943.4	-	4	943	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	286	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GCTGCTTAACGAAGTCAAAGG	0.617000													10	22					0	0	0.411799	0	0
DAGLB	221955	broad.mit.edu	37	7	6472552	6472552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:6472552G>A	ENST00000425398.2	-	4	549	c.458C>T	c.(457-459)tCg>tTg	p.S153L	DAGLB_ENST00000297056.6_Silent_p.L239L|DAGLB_ENST00000421761.2_Missense_Mutation_p.S26L|DAGLB_ENST00000428902.2_Silent_p.L112L|DAGLB_ENST00000436575.1_Silent_p.L198L	NM_001142936.1	NP_001136408.1	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GAAGCAGGGCGAGGCCCGCCG	0.607000													33	38					0	0	0.788014	0	0
LAMA5	3911	broad.mit.edu	37	20	60897153	60897153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:60897153C>G	ENST00000252999.3	-	48	6484	c.6418G>C	c.(6418-6420)Gag>Cag	p.E2140Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2140	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGCAGCGCTCCCCGCTGAGC	0.692000													9	19					0	0	0.307466	0	0
SPEG	10290	broad.mit.edu	37	2	220337739	220337739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:220337739C>G	ENST00000312358.7	+	16	4200	c.4068C>G	c.(4066-4068)atC>atG	p.I1356M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1356	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCAGCACATCTTCCGGGTCC	0.667000													15	56					0	0	0.520397	0	0
ACOXL	55289	broad.mit.edu	37	2	111562905	111562905	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:111562905A>G	ENST00000389811.4	+	9	910	c.686A>G	c.(685-687)aAt>aGt	p.N229S	ACOXL_ENST00000340561.4_Missense_Mutation_p.N229S|ACOXL_ENST00000439055.1_Missense_Mutation_p.N229S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	229					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCAAGATTCAATGCCATGCTG	0.458000													30	85					0	0	0.729181	0	0
CCL1	6346	broad.mit.edu	37	17	32688887	32688887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688887G>C	ENST00000225842.3	-	2	174	c.105C>G	c.(103-105)ttC>ttG	p.F35L		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	35					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGCAAATGAGAAGCAACATC	0.453000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	77					0	0	0.750413	0	0
FAM135B	51059	broad.mit.edu	37	8	139263175	139263175	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139263175G>T	ENST00000395297.1	-	6	621	c.451C>A	c.(451-453)Cag>Aag	p.Q151K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	151										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCGGGACCTGGTGGTGCAGA	0.587000										HNSCC(54;0.14)			52	189					2.53126e-37	2.75536e-37	0.870114	1	0
WRN	7486	broad.mit.edu	37	8	31015039	31015039	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:31015039C>T	ENST00000298139.5	+	33	4224	c.3975C>T	c.(3973-3975)gtC>gtT	p.V1325V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1325					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCCTCCCGTCAACTCAGGTG	0.478000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				11	13					0	0	0.411799	0	0
CIT	11113	broad.mit.edu	37	12	120173111	120173111	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120173111C>T	ENST00000392521.2	-	25	3065	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E962K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	962					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTTGAGTTCAGCGTTGTCC	0.478000													10	87					0	0	0.361761	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86569360	86569360	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:86569360G>C	ENST00000450689.2	-	6	998	c.813C>G	c.(811-813)gtC>gtG	p.V271V	KIAA1324L_ENST00000416314.1_Silent_p.V104V|KIAA1324L_ENST00000297222.6_Silent_p.V31V|KIAA1324L_ENST00000444627.1_Silent_p.V271V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	271						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCACAGGCTTGACCGCCTTAG	0.368000													18	77					0	0	0.608945	0	0
USP47	55031	broad.mit.edu	37	11	11913630	11913630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:11913630C>G	ENST00000339865.5	+	3	1032	c.269C>G	c.(268-270)tCt>tGt	p.S90C	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S158C|USP47_ENST00000399455.2_Missense_Mutation_p.S178C	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	178					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCCTACTCATCTATTTTGAAT	0.393000													17	148					0	0	0.539581	0	0
CEBPZ	10153	broad.mit.edu	37	2	37449631	37449631	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:37449631C>G	ENST00000234170.5	-	4	2102	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	653					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTCTGTTTCTTTGTCTGCA	0.343000													13	40					0	0	0.457914	0	0
COPB2	9276	broad.mit.edu	37	3	139087069	139087069	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139087069A>G	ENST00000333188.5	-	13	1644	c.1463T>C	c.(1462-1464)cTt>cCt	p.L488P	COPB2_ENST00000507777.1_Missense_Mutation_p.L459P	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	488					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CAGATACTTAAGGATAAAAAA	0.393000													9	52					0	0	0.335167	0	0
UROD	7389	broad.mit.edu	37	1	45479331	45479332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:45479331_45479332delAG	ENST00000246337.4	+	5	461_462	c.342_343delAG	c.(340-345)gaagagfs	p.EE114fs	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	114						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CATTAAGAGAAGAGCAGGACCT	0.559									Porphyria Cutanea Tarda, Type II				13	56	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22666863	22666865	+	RNA	DEL	GAG	GAG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:22666863_22666865delGAG	ENST00000450551.1	-	0	70				AC096570.2_ENST00000419013.1_lincRNA																							aaaggaggaagaggaggaggagg	0.424													2	4	---	---	---	---					
EIF4A2	1974	broad.mit.edu	37	3	186504931	186504932	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:186504931_186504932delAC	ENST00000323963.5	+	8	851_852	c.787_788delAC	c.(787-789)acafs	p.T263fs	EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.T264fs|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.T168fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	263	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAAGTTGGATACACTTTGTGAC	0.416			T	BCL6	NHL								56	178	---	---	---	---					
LINC00575	439934	broad.mit.edu	37	4	83540364	83540366	+	RNA	DEL	AGC	AGC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:83540364_83540366delAGC	ENST00000426551.1	-	0	226					NR_024087.1																						gagcgtggcaagcagcagcagca	0.502													3	6	---	---	---	---					
KIFC1	3833	broad.mit.edu	37	6	33372709	33372709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:33372709delG	ENST00000428849.2	+	7	1287	c.837delG	c.(835-837)cagfs	p.Q279fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	279					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTGTGGCCCAGGCAGCCTTAC	0.587													10	80	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36652121	36652122	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:36652121_36652122insC	ENST00000405375.1	+	2	478_479	c.243_244insC	c.(244-246)cccfs	p.P82fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P116fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P82fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P82fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	82					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TTCCCACGGGGCCCCGGCGAGG	0.653													8	23	---	---	---	---					
SGK3	23678	broad.mit.edu	37	8	67748054	67748054	+	Frame_Shift_Del	DEL	G	G	-	rs34561918		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:67748054delG	ENST00000396596.1	+	9	796	c.582delG	c.(580-582)cagfs	p.Q194fs	SGK3_ENST00000520976.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000345714.4_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000522398.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000521198.2_Frame_Shift_Del_p.Q194fs|C8orf44-SGK3_ENST00000519289.1_Frame_Shift_Del_p.Q194fs	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	194	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGTGTTACAGAAAAAAATAG	0.289													19	48	---	---	---	---					
LINC00963	100506190	broad.mit.edu	37	9	132259654	132259654	+	RNA	DEL	G	G	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:132259654delG	ENST00000419300.3	+	0	200																											ggggcggggaggggggcggtg	0.697													2	4	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCT	rs138084841	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:21805466_21805467insCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGG	c.(1285-1287)ggg>gAGGgg	p.428_429insE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insE	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													3	3	---	---	---	---					
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720700	89720709	+	Frame_Shift_Del	DEL	AGGAAACCTC	AGGAAACCTC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:89720700_89720709delAGGAAACCTC	ENST00000371953.3	+	8	2208_2217	c.851_860delAGGAAACCTC	c.(850-861)gaggaaacctcafs	p.EETS284fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	284	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.S287*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGGACCAGAGGAAACCTCAGAAAAAGTA	0.300		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	33	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2089458	2089459	+	RNA	INS	-	-	C	rs115165417	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:2089458_2089459insC	ENST00000579097.1	-	0	310																											ccCATTCACTGCCCCCCCACCC	0.520													4	2	---	---	---	---					
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144223236	by1000genomes	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708													3	5	---	---	---	---					
