Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NUDT14	256281	broad.mit.edu	37	14	105639492	105639492	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:105639492T>G	uc010tyn.2	-	4	649	c.535A>C	c.(535-537)Att>Ctt	p.I179L	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	179	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCACCTCAATGAGCTCACCC	0.617000										HNSCC(42;0.11)				43			29		0	0	0.034045	0	0
PLCB1	23236	broad.mit.edu	37	20	8678416	8678416	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr20:8678416G>A	uc002wnb.3	+	10	1156	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PLCB1_uc010zrb.1_Missense_Mutation_p.E284K|PLCB1_uc002wna.3_Missense_Mutation_p.E385K|PLCB1_uc002wnc.1_Missense_Mutation_p.E284K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	385	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CATGACAACTGAAATATCTTT	0.483000														52			36		0	0	0.064281	0	0
USPL1	10208	broad.mit.edu	37	13	31232332	31232332	+	Silent	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr13:31232332T>C	uc001utc.2	+	8	2550	c.2118T>C	c.(2116-2118)ctT>ctC	p.L706L	USPL1_uc001utd.2_Silent_p.L377L|USPL1_uc001ute.1_Silent_p.L377L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	706					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AACAATTCCTTACACCAAAAA	0.348000														28			30		0	0	0.037714	0	0
EMR1	2015	broad.mit.edu	37	19	6926601	6926601	+	Silent	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:6926601A>C	uc002mfw.3	+	15	2249	c.2211A>C	c.(2209-2211)ggA>ggC	p.G737G	EMR1_uc010dvc.3_Silent_p.G672G|EMR1_uc010dvb.3_Silent_p.G685G|EMR1_uc010xji.2_Silent_p.G596G|EMR1_uc010xjj.2_Silent_p.G560G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	737					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGGGCTATGGAATGCATAATC	0.512000														67			42		0	0	0.027894	0	0
CYB5B	80777	broad.mit.edu	37	16	69493023	69493023	+	Splice_Site	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:69493023A>G	uc002exg.1	+	4	451	c.362_splice	c.e4+1	p.S121_splice		NM_030579	NP_085056	O43169	CYB5B_HUMAN	Homo sapiens cytochrome b5 type B (outer mitochondrial membrane) (CYB5B), nuclear gene encoding mitochondrial protein, mRNA.	117					electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TACATGCAAAAGGTTAGTATC	0.299000														83			25		0	0	0.021523	0	0
WDR70	55100	broad.mit.edu	37	5	37396478	37396478	+	Splice_Site	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:37396478G>A	uc003jkv.3	+	5	355	c.297_splice	c.e5-1	p.R99_splice	WDR70_uc010iva.1_Splice_Site_p.R99_splice	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	99	Ser-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTTTCAGGGATACGAGCAG	0.393000														102			43		0	0	0.045515	0	0
VPS13B	157680	broad.mit.edu	37	8	100155332	100155332	+	Silent	SNP	T	C	C	rs145648860	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:100155332T>C	uc003yiv.3	+	12	1893	c.1782T>C	c.(1780-1782)atT>atC	p.I594I	VPS13B_uc003yiw.3_Silent_p.I594I|VPS13B_uc003yit.3_Silent_p.I594I|VPS13B_uc003yiu.1_Silent_p.I594I|VPS13B_uc003yix.1_Silent_p.I65I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	594					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCATAGGATTTTGAAAATGA	0.383000														114			8		0	0	0.038147	0	0
RABEPK	10244	broad.mit.edu	37	9	127990238	127990238	+	Silent	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr9:127990238C>A	uc004bpi.3	+	6	745	c.576C>A	c.(574-576)ccC>ccA	p.P192P	RABEPK_uc004bpj.3_Silent_p.P141P|RABEPK_uc004bpk.3_Silent_p.P192P	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	192					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCATCTCCCCGGCATGGTC	0.458000														43			28		2.08457e-15	2.23785e-15	0.045705	1	0
PLAT	5327	broad.mit.edu	37	8	42040399	42040399	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:42040399T>C	uc003xos.2	-	7	850	c.641A>G	c.(640-642)gAc>gGc	p.D214G	PLAT_uc010lxf.1_Missense_Mutation_p.D131G|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.D168G|PLAT_uc011lcm.1_Missense_Mutation_p.D125G|PLAT_uc011lcn.1_Missense_Mutation_p.D88G	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	214					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAGTAGCAGTCACTGTTTCC	0.537000														83			71		0	0	0.048971	0	0
CYB5R4	51167	broad.mit.edu	37	6	84569533	84569533	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:84569533C>T	uc003pkf.3	+	0	164	c.32C>T	c.(31-33)gCc>gTc	p.A11V		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	11					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding	p.A11S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TCTTTCCCGGCCCCCAGGTCG	0.692000											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			25		0	0	0.024334	0	0
G6PC	2538	broad.mit.edu	37	17	41059548	41059548	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:41059548T>A	uc002icb.1	+	2	428	c.349T>A	c.(349-351)Tct>Act	p.S117T	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	117					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.P116L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGGGAGCCCCTCTGGCCATGC	0.512000														50			17		0	0	0.038395	0	0
TGM3	7053	broad.mit.edu	37	20	2290999	2290999	+	Silent	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr20:2290999C>A	uc002wfx.4	+	2	454	c.357C>A	c.(355-357)tcC>tcA	p.S119S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	119					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGATCTTCTCCCAGGGCGGCA	0.562000														190			121		9.11594e-60	1.08205e-59	0.048971	1	0
MDGA2	161357	broad.mit.edu	37	14	47530766	47530766	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:47530766C>T	uc001wwj.4	-	6	1369	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	MDGA2_uc001wwi.4_Missense_Mutation_p.R106Q|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	335	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GATCCAAAATCGTCCTTTTTT	0.368000														29			16		0	0	0.028581	0	0
CHD7	55636	broad.mit.edu	37	8	61769429	61769429	+	Silent	SNP	A	G	G	rs61742801	by1000genomes	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:61769429A>G	uc003xue.3	+	33	8082	c.7590A>G	c.(7588-7590)aaA>aaG	p.K2530K	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2530					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGCCACAAACGGACGTCAT	0.542000														114			7		0	0	0.038147	0	0
EID1	23741	broad.mit.edu	37	15	49170564	49170564	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr15:49170564A>C	uc001zxc.1	+	0	275	c.191A>C	c.(190-192)cAg>cCg	p.Q64P	SHC4_uc010uey.1_5'Flank|SHC4_uc010uez.1_5'Flank|SHC4_uc001zxb.1_Intron	NM_014335	NP_055150	Q9Y6B2	EID1_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 1 (EID1), mRNA.	64	Interaction with NR0B2 (By similarity).				cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		GAGGAGGCCCAGCCAATGGCG	0.697000														38			22		0	0	0.055883	0	0
TTC40	54777	broad.mit.edu	37	10	134660468	134660468	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr10:134660468C>T	uc021qbc.1	-	42	6336	c.6235G>A	c.(6235-6237)Gca>Aca	p.A2079T		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	240										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGTAGTTGCAGGGTCCAGG	0.652000														19			12		0	0	0.013537	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460698	1460698	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr20:1460698T>C	uc002wfg.2	-	1	326	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	SIRPB2_uc002wfh.3_Missense_Mutation_p.Q33R|SIRPB2_uc010zpr.1_5'UTR	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	33	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTGCTGCTCTGCCCAGAGGC	0.532000														43			20		0	0	0.043863	0	0
abParts	0	broad.mit.edu	37	14	106539191	106539191	+	RNA	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:106539191G>A	uc021ser.1	-	2082		c.37955C>T								Parts of antibodies, mostly variable regions.																		GAACTTCTGTGCATAGCCTGT	0.532000														9			6		0	0	0.029380	0	0
ZNF462	58499	broad.mit.edu	37	9	109691965	109691965	+	Silent	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr9:109691965T>A	uc004bcz.3	+	2	6061	c.5772T>A	c.(5770-5772)cgT>cgA	p.R1924R	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.R1772R|ZNF462_uc004bda.3_Silent_p.R1772R|ZNF462_uc011lvz.2_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1924					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTGCCAAACGTCAGGAGAGGA	0.448000														59			24		0	0	0.018920	0	0
CUL3	8452	broad.mit.edu	37	2	225422564	225422564	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr2:225422564C>T	uc010fwy.1	-	1	147	c.94G>A	c.(94-96)Gat>Aat	p.D32N	CUL3_uc010zls.1_Intron|CUL3_uc002vny.2_Missense_Mutation_p.D26N	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	26					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.D26Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TATTTTTCATCCATGGTCATC	0.313000														13			7		0	0	0.047766	0	0
ZNF547	284306	broad.mit.edu	37	19	57889118	57889118	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:57889118T>A	uc002qol.3	+	3	979	c.774T>A	c.(772-774)caT>caA	p.H258Q		NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	Homo sapiens zinc finger protein 547 (ZNF547), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T257I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTACACATCAGAGGGTTC	0.438000														54			48		0	0	0.045515	0	0
SPTA1	6708	broad.mit.edu	37	1	158585088	158585088	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:158585088T>C	uc001fst.1	-	47	6905	c.6706A>G	c.(6706-6708)Att>Gtt	p.I2236V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAATCCAATGGTGCTGTAT	0.527000														175			116		0	0	0.048971	0	0
WNT7A	7476	broad.mit.edu	37	3	13916593	13916593	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:13916593G>T	uc003bye.1	-	1	454	c.149C>A	c.(148-150)gCg>gAg	p.A50E		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	50					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTGGCAGATCGCCCGCTGTCT	0.592000														102			41		1.15505e-17	1.25849e-17	0.036044	1	0
AKAP11	11215	broad.mit.edu	37	13	42876085	42876085	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr13:42876085A>G	uc001uys.2	+	7	3378	c.3203A>G	c.(3202-3204)cAt>cGt	p.H1068R		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1068					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCCTTTCCTCATTCACATACT	0.398000														99			62		0	0	0.048971	0	0
OGT	8473	broad.mit.edu	37	X	70757686	70757686	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chrX:70757686C>T	uc004eaa.2	+	2	464	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.H66Y|OGT_uc011mpw.2_Missense_Mutation_p.H76Y	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	76					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CAGATCTGCTCACTTTAGCAC	0.453000														65			11		0	0	0.016723	0	0
CRMP1	1400	broad.mit.edu	37	4	5827300	5827300	+	Silent	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr4:5827300A>G	uc003gis.3	-	12	1979	c.1890T>C	c.(1888-1890)gcT>gcC	p.A630A	EVC_uc003gim.1_Intron|CRMP1_uc003giq.3_Silent_p.A516A|CRMP1_uc003gir.3_Silent_p.A511A	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	516					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGGCTGAAGGAGCGGGAGTTG	0.517000														51			33		0	0	0.050027	0	0
PCDH12	51294	broad.mit.edu	37	5	141336768	141336768	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:141336768A>G	uc003llx.3	-	0	1860	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	217	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGTCATAGGCAGTTAAC	0.493000														69			104		0	0	0.048971	0	0
MPEG1	219972	broad.mit.edu	37	11	58979712	58979712	+	Silent	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr11:58979712G>T	uc001nnu.4	-	0	783	c.627C>A	c.(625-627)gtC>gtA	p.V209V		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	209	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCCCAGCGTCGACACTGGTGG	0.587000														70			44		2.35958e-20	2.59022e-20	0.036044	1	0
HIP1	3092	broad.mit.edu	37	7	75211434	75211434	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr7:75211434C>A	uc003uds.2	-	5	544	c.499G>T	c.(499-501)Gac>Tac	p.D167Y	HIP1_uc011kfz.2_Missense_Mutation_p.D167Y	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	167					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCTGGCGGTCACTCATCTGC	0.582000			T	PDGFRB	CMML									35			25		6.36457e-07	6.4981e-07	0.021523	1	0
HAS2	3037	broad.mit.edu	37	8	122626358	122626358	+	Silent	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:122626358A>G	uc003yph.2	-	3	2188	c.1650T>C	c.(1648-1650)ctT>ctC	p.L550L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	550						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCATACATCAAGCACCATGT	0.443000														76			49		0	0	0.048971	0	0
CYB5B	80777	broad.mit.edu	37	16	69493017	69493017	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:69493017T>G	uc002exg.1	+	3	444	c.355T>G	c.(355-357)Tgc>Ggc	p.C119G		NM_030579	NP_085056	O43169	CYB5B_HUMAN	Homo sapiens cytochrome b5 type B (outer mitochondrial membrane) (CYB5B), nuclear gene encoding mitochondrial protein, mRNA.	115					electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				AAATGATACATGCAAAAGGTT	0.294000														77			24		0	0	0.076483	0	0
BAG3	9531	broad.mit.edu	37	10	121429616	121429616	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr10:121429616C>T	uc001lem.3	+	1	740	c.434C>T	c.(433-435)aCt>aTt	p.T145I	BAG3_uc001lel.3_Missense_Mutation_p.T145I	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	145	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CCAGAAACCACTCAGCCAGAT	0.652000														95			63		0	0	0.048971	0	0
RBM12B	389677	broad.mit.edu	37	8	94748606	94748606	+	Silent	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:94748606A>G	uc022aye.1	-	0	33	c.33T>C	c.(31-33)ccT>ccC	p.P11P	RBM12B_uc003yfz.3_Silent_p.P11P	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	11							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCGCAATAAAAGGAAGCCCCA	0.443000														63			43		0	0	0.036044	0	0
RBBP6	5930	broad.mit.edu	37	16	24551969	24551969	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:24551969T>A	uc002dmh.3	+	0	1062	c.22T>A	c.(22-24)Ttt>Att	p.F8I	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Missense_Mutation_p.F8I|RBBP6_uc002dmi.3_Missense_Mutation_p.F8I|RBBP6_uc010bxr.3_Missense_Mutation_p.F8I|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	8	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCATTATAAATTTTCCTCTAA	0.428000														96			34		0	0	0.023175	0	0
R3HDM2	22864	broad.mit.edu	37	12	57663773	57663773	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:57663773T>C	uc009zpm.1	-	12	1342	c.1307A>G	c.(1306-1308)gAt>gGt	p.D436G	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.D131G|R3HDM2_uc001snr.2_Missense_Mutation_p.D163G|R3HDM2_uc001sns.2_Missense_Mutation_p.D436G|R3HDM2_uc001snt.2_Missense_Mutation_p.D450G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	436	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCTGAGGTCATCTGCCTGTTG	0.463000														113			45		0	0	0.048971	0	0
ARMC4	55130	broad.mit.edu	37	10	28225698	28225698	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr10:28225698C>A	uc009xky.3	-	14	2307	c.2209G>T	c.(2209-2211)Ggg>Tgg	p.G737W	ARMC4_uc010qds.2_Missense_Mutation_p.G262W|ARMC4_uc010qdt.2_Missense_Mutation_p.G429W|ARMC4_uc001itz.3_Missense_Mutation_p.G737W	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	737							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATATAGCCCCTGTGACAGCA	0.453000														117			67		1.59245e-42	1.87498e-42	0.048971	1	0
COCH	1690	broad.mit.edu	37	14	31355191	31355191	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:31355191C>T	uc001wqr.2	+	10	1230	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	COCH_uc001wqp.2_Missense_Mutation_p.R384C|COCH_uc001wqq.4_Missense_Mutation_p.R384C|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.R235C	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	384	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAGCAATTTCCGCCTCATGCT	0.428000														50			41		0	0	0.025465	0	0
VPS13B	157680	broad.mit.edu	37	8	100147934	100147934	+	Silent	SNP	A	G	G	rs145969836	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:100147934A>G	uc003yiv.3	+	10	1647	c.1536A>G	c.(1534-1536)gaA>gaG	p.E512E	VPS13B_uc003yiw.3_Silent_p.E512E|VPS13B_uc003yit.3_Silent_p.E512E|VPS13B_uc003yiu.1_Silent_p.E512E|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	512					protein transport			p.A511T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCGCGCAGAATTTATCTTGG	0.348000														30			4		0	0	0.009096	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843552	22843552	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr22:22843552A>C	uc002zwc.1	-	3	948	c.172T>G	c.(172-174)Tca>Gca	p.S58A	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.S58A	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	58					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)		AAAATGTTTGAAACGACTGGT	0.408000														65			46		0	0	0.039052	0	0
ZC3H13	23091	broad.mit.edu	37	13	46619094	46619094	+	Missense_Mutation	SNP	T	C	C	rs138236264		TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr13:46619094T>C	uc010tfw.1	-	1	229	c.223A>G	c.(223-225)Aga>Gga	p.R75G	ZC3H13_uc001vas.1_Missense_Mutation_p.R75G|ZC3H13_uc001vat.1_Missense_Mutation_p.R75G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	75							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTTTACCTTCTATAATTGCTG	0.373000														45			22		0	0	0.069288	0	0
VPS37B	79720	broad.mit.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:123351949T>G	uc001udl.3	-	3	675	c.572A>C	c.(571-573)tAc>tCc	p.Y191S		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	191	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.Y191S(4)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706000														88			15		0	0	0.030593	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171443	3171443	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr20:3171443C>A	uc002wic.3	-	8	823	c.801G>T	c.(799-801)aaG>aaT	p.K267N		NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	Homo sapiens DDRGK domain containing 1 (DDRGK1), mRNA.	267	PCI.					endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TGTAGATGAACTTGCCCCGGT	0.627000														18			19		3.99206e-14	4.1931e-14	0.043863	1	0
BMP2K	55589	broad.mit.edu	37	4	79832296	79832296	+	Silent	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr4:79832296A>G	uc003hlk.3	+	15	2761	c.2595A>G	c.(2593-2595)gcA>gcG	p.A865A	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	865						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CCTTCTTTGCAGTGCGTGCTC	0.473000														29			32		0	0	0.054565	0	0
ALB	213	broad.mit.edu	37	4	74275161	74275161	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr4:74275161A>C	uc003hgs.4	+	4	645	c.572A>C	c.(571-573)gAa>gCa	p.E191A	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.E81A	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	191	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTTTTACAGAATGTTGCCAA	0.358000														56			33		0	0	0.054565	0	0
EXTL3	2137	broad.mit.edu	37	8	28574533	28574533	+	Silent	SNP	G	A	A	rs112390366	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:28574533G>A	uc003xgz.1	+	2	1550	c.957G>A	c.(955-957)ctG>ctA	p.L319L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	319						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.P318L(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TATCACCGCTGGTCCATGCCA	0.537000														72			6		0	0	0.021553	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186092	127186092	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chrX:127186092G>A	uc004eum.3	-	0	291	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	32						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGACATGGCGGGGTCCAATC	0.448000														64			6		0	0	0.021553	0	0
SLC25A19	60386	broad.mit.edu	37	17	73279572	73279572	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:73279572T>A	uc002jns.4	-	2	1301	c.391A>T	c.(391-393)Atg>Ttg	p.M131L	SLC25A19_uc010dge.3_Intron|SLC25A19_uc002jnv.4_Missense_Mutation_p.M131L|SLC25A19_uc002jnu.4_Missense_Mutation_p.M131L|SLC25A19_uc002jnw.4_Missense_Mutation_p.M131L|SLC25A19_uc002jnt.4_Missense_Mutation_p.M131L	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	131						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGGGTGGCCATACAGGCAGCC	0.607000														31			41		0	0	0.039052	0	0
MAZ	4150	broad.mit.edu	37	16	29819577	29819577	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:29819577G>C	uc002dtx.3	+	2	1238	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T	BOLA2_uc010bzb.1_Intron|MAZ_uc010vdx.2_Missense_Mutation_p.R334T|MAZ_uc002dty.3_Missense_Mutation_p.R357T|MAZ_uc002dtz.1_3'UTR	NM_001042539	NP_001036004	P56270	MAZ_HUMAN	Homo sapiens MYC-associated zinc finger protein (purine-binding transcription factor) (MAZ), transcript variant 2, mRNA.	357					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTCACGTCAGACAAGTGCAC	0.562000														44			42		0	0	0.048971	0	0
RHD	6007	broad.mit.edu	37	1	25611223	25611223	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:25611223C>A	uc009vro.3	+	1	366	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.S103Y|RHD_uc001bjz.3_Missense_Mutation_p.S103Y|RHD_uc001bkc.3_Missense_Mutation_p.S103Y|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.S103Y|RHD_uc001bkb.3_Missense_Mutation_p.S103Y|RHD_uc009vrn.3_Missense_Mutation_p.S103Y|RHD_uc009vrp.3_Missense_Mutation_p.S103Y			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	103			S -> C (in a breast cancer sample; somatic mutation).	S -> P (in Ref. 4; AAB26081).		integral to plasma membrane		p.S103C(2)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGTTCCCTTCTGGGAAGGTG	0.562000														36			30		3.90053e-15	4.12664e-15	0.050027	1	0
RNF186	54546	broad.mit.edu	37	1	20141448	20141448	+	Nonsense_Mutation	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:20141448A>T	uc001bcr.3	-	0	324	c.147T>A	c.(145-147)tgT>tgA	p.C49*		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	49						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAACCGGGGACAGCTGTAGG	0.642000														74			51		0	0	0.048971	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230031	2230031	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:2230031G>A	uc010bsg.1	-	17	3370	c.3338C>T	c.(3337-3339)cCg>cTg	p.P1113L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1113	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAAGGGCGGGCCTTCGAC	0.677000														13			5		0	0	0.021553	0	0
KRT84	3890	broad.mit.edu	37	12	52779107	52779107	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:52779107C>T	uc001sah.1	-	0	311	c.263G>A	c.(262-264)gGt>gAt	p.G88D		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	88	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCCATCACCAAAACCCAT	0.597000														172			62		0	0	0.048971	0	0
NOD1	10392	broad.mit.edu	37	7	30475634	30475634	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr7:30475634G>T	uc003tav.3	-	10	3124	c.2601C>A	c.(2599-2601)aaC>aaA	p.N867K		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	867					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTAGAGACGTGTTCTGCTGCA	0.463000														34			34		1.30015e-28	1.48298e-28	0.074837	1	0
RPL11	6135	broad.mit.edu	37	1	24021148	24021148	+	Splice_Site	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:24021148A>T	uc001bhk.3	+	4	310	c.265_splice	c.e4-2	p.V89_splice	RPL11_uc001bhl.3_Splice_Site_p.V88_splice	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	89					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|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)		TTTTCTCCACAGGTGCGGGAG	0.443000														75			49		0	0	0.048971	0	0
NR1D2	9975	broad.mit.edu	37	3	24003482	24003482	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:24003482C>T	uc003ccs.2	+	4	851	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.R103C	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	178					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.R178H(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCGGTTTGGTCGTATTCCTAA	0.343000														28			20		0	0	0.062417	0	0
TRIO	7204	broad.mit.edu	37	5	14297362	14297362	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:14297362A>G	uc003jff.3	+	6	1364	c.1358A>G	c.(1357-1359)aAg>aGg	p.K453R	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.K404R|TRIO_uc003jfh.1_Missense_Mutation_p.K102R	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	453					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCCACCAGAAGGCCGAAAAG	0.547000														24			35		0	0	0.050027	0	0
MEGF8	1954	broad.mit.edu	37	19	42838229	42838229	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:42838229T>A	uc002otl.4	+	2	1057	c.422T>A	c.(421-423)cTg>cAg	p.L141Q	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	141	EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGCTTCTCCCTGTGCCCGGGT	0.652000														25			13		0	0	0.013537	0	0
GPR98	84059	broad.mit.edu	37	5	90024517	90024517	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:90024517T>G	uc003kju.3	+	48	10289	c.10193T>G	c.(10192-10194)tTg>tGg	p.L3398W	GPR98_uc003kjt.3_Missense_Mutation_p.L1104W|GPR98_uc003kjv.3_Missense_Mutation_p.L998W	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3398					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTTCGTGTTGCATCAAAAA	0.453000														132			155		0	0	0.048971	0	0
CDCA2	157313	broad.mit.edu	37	8	25323728	25323728	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:25323728G>A	uc003xep.1	+	4	902	c.425G>A	c.(424-426)aGa>aAa	p.R142K	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R142K|CDCA2_uc003xeq.1_Missense_Mutation_p.R127K|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	142					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AACACTTTAAGAGAACGAATA	0.403000														36			31		0	0	0.054565	0	0
CUL3	8452	broad.mit.edu	37	2	225379451	225379451	+	Silent	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr2:225379451G>T	uc010fwy.1	-	3	488	c.435C>A	c.(433-435)gtC>gtA	p.V145V	CUL3_uc010zls.1_Silent_p.V73V|CUL3_uc002vny.2_Silent_p.V139V	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	139					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCAAATTGTAGACGTTCTCCA	0.348000														29			11		1.08611e-07	1.1167e-07	0.010729	1	0
SLC4A8	9498	broad.mit.edu	37	12	51856201	51856201	+	Silent	SNP	C	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:51856201C>G	uc001rys.1	+	9	1387	c.1209C>G	c.(1207-1209)ccC>ccG	p.P403P	SLC4A8_uc010sni.2_Silent_p.P350P|SLC4A8_uc001rym.3_Silent_p.P350P|SLC4A8_uc001ryn.3_Silent_p.P350P|SLC4A8_uc001ryo.2_Silent_p.P350P|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.2_Silent_p.P430P|SLC4A8_uc001ryq.4_Silent_p.P403P|SLC4A8_uc001ryr.3_Silent_p.P403P|SLC4A8_uc010snk.2_Silent_p.P350P	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	403					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGTGGGATCCCTCCATTAGAA	0.502000														39			72		0	0	0.048971	0	0
ACSF2	80221	broad.mit.edu	37	17	48539814	48539814	+	Silent	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:48539814T>C	uc010wmm.1	+	6	839	c.735T>C	c.(733-735)gaT>gaC	p.D245D	ACSF2_uc002iqu.2_Silent_p.D220D|ACSF2_uc010wml.1_Silent_p.D177D|ACSF2_uc010wmn.1_Silent_p.D207D|ACSF2_uc010wmo.1_Silent_p.D60D	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	220					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCTCGGTGGATGCCCCTTTGC	0.627000														134			37		0	0	0.025465	0	0
STAT6	6778	broad.mit.edu	37	12	57498519	57498519	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:57498519A>T	uc009zpg.3	-	9	1228	c.1226T>A	c.(1225-1227)tTc>tAc	p.F409Y	STAT6_uc009zpe.3_Missense_Mutation_p.F360Y|STAT6_uc001sna.3_Missense_Mutation_p.F360Y|STAT6_uc009zpf.3_Missense_Mutation_p.F360Y|STAT6_uc010srb.2_Missense_Mutation_p.F250Y|STAT6_uc010src.2_Missense_Mutation_p.F250Y|STAT6_uc010srd.2_Missense_Mutation_p.F250Y	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	360					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGGTTCTTGAACAGGGCAGA	0.577000														45			60		0	0	0.048971	0	0
CHD7	55636	broad.mit.edu	37	8	61707678	61707678	+	Missense_Mutation	SNP	G	A	A	rs141947938	by1000genomes	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:61707678G>A	uc003xue.3	+	3	2722	c.2230G>A	c.(2230-2232)Ggt>Agt	p.G744S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	744					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.556_871dup(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGACCCAGGTGTTCAGGT	0.428000														109			6		0	0	0.038147	0	0
TGM7	116179	broad.mit.edu	37	15	43577123	43577123	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr15:43577123C>T	uc001zrf.1	-	6	898	c.893G>A	c.(892-894)cGt>cAt	p.R298H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	298					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGAAACAACACGGGTTGGAAC	0.413000														62			42		0	0	0.025465	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763870	92763870	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr7:92763870T>G	uc003umh.1	-	4	2631	c.1415A>C	c.(1414-1416)cAa>cCa	p.Q472P	SAMD9L_uc003umj.1_Missense_Mutation_p.Q472P|SAMD9L_uc003umi.1_Missense_Mutation_p.Q472P|SAMD9L_uc010lfb.1_Missense_Mutation_p.Q472P|SAMD9L_uc003umk.1_Missense_Mutation_p.Q472P|SAMD9L_uc010lfc.1_Missense_Mutation_p.Q472P|SAMD9L_uc010lfd.1_Missense_Mutation_p.Q472P|SAMD9L_uc022ahh.1_Missense_Mutation_p.Q472P	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	472										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCATATTGATTTGGAAA	0.408000														53			77		0	0	0.048971	0	0
OBSCN	84033	broad.mit.edu	37	1	228475632	228475632	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:228475632A>T	uc009xez.1	+	35	9826	c.9782A>T	c.(9781-9783)cAg>cTg	p.Q3261L	OBSCN_uc001hsn.3_Missense_Mutation_p.Q3261L|OBSCN_uc001hsq.1_Missense_Mutation_p.Q517L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3261	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCGGGGACCAGACTACTTCT	0.607000														27			18		0	0	0.038395	0	0
OR2M7	391196	broad.mit.edu	37	1	248486962	248486962	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:248486962T>A	uc010pzk.2	-	0	909	c.909A>T	c.(907-909)aaA>aaT	p.K303N		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TTCCTAAGATTTTCATTAATG	0.393000														72			11		0	0	0.013537	0	0
CDH15	1013	broad.mit.edu	37	16	89257739	89257739	+	Splice_Site	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:89257739T>C	uc002fmt.3	+	9	1310	c.1233_splice	c.e9-1	p.S411_splice		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCATCAGCTACTCCAAGGA	0.627000														95			36		0	0	0.069456	0	0
LARP7	51574	broad.mit.edu	37	4	113574375	113574375	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr4:113574375A>C	uc003iaz.3	+	12	2045	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	LARP7_uc003iay.3_Missense_Mutation_p.K520T|LARP7_uc003iba.3_Missense_Mutation_p.K441T|LARP7_uc003ibb.3_Missense_Mutation_p.K520T	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	520					RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACTGCTGGAAACTCGAGATC	0.348000														24			20		0	0	0.069288	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25853368	25853368	+	Splice_Site	SNP	T	C	C	rs6423498	by1000genomes	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr22:25853368T>C	uc003abt.3	+	4		c.589_splice	c.e4+1		CRYBB2P1_uc003abu.3_Splice_Site|CRYBB2P1_uc003abv.3_Splice_Site					Homo sapiens crystallin, beta B2 pseudogene 1 (CRYBB2P1), transcript variant 1, non-coding RNA.																		CGGAGTGGCATGTAAGTGCAT	0.557000														41			5		0	0	0.021553	0	0
XPO5	57510	broad.mit.edu	37	6	43527956	43527956	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:43527956T>G	uc003ovp.3	-	10	1391	c.1180A>C	c.(1180-1182)Ata>Cta	p.I394L		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	394					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TATTTTGGTATTATTGCTAAT	0.378000														16			12		0	0	0.010729	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542542	141542542	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr8:141542542T>C	uc003yvn.3	-	17	2485	c.2444A>G	c.(2443-2445)tAc>tGc	p.Y815C	EIF2C2_uc010meo.3_Missense_Mutation_p.Y781C|EIF2C2_uc010men.3_Missense_Mutation_p.Y738C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	815	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CACCAGGTGGTACCTGGCCCG	0.597000														23			19		0	0	0.038395	0	0
SIRT5	23408	broad.mit.edu	37	6	13595708	13595708	+	Splice_Site	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:13595708G>T	uc003nay.3	+	6	788	c.476_splice	c.e6-1	p.G159_splice	SIRT5_uc003naw.3_Splice_Site_p.G159_splice|SIRT5_uc003nax.3_Splice_Site_p.G51_splice|SIRT5_uc011dit.2_Splice_Site_p.G159_splice	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	159	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GTATTTTTCAGGTAGCTTATT	0.338000														32			24		1.22574e-08	1.2692e-08	0.069288	1	0
NUDT6	11162	broad.mit.edu	37	4	123814307	123814307	+	Silent	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr4:123814307C>A	uc003iew.3	-	4	661	c.627G>T	c.(625-627)cgG>cgT	p.R209R	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.3_Silent_p.R40R	NM_007083	NP_009014	P53370	NUDT6_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 6 (NUDT6), transcript variant 1, mRNA.	209	Nudix hydrolase.		R -> Q (in dbSNP:rs1048201).			mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						TGTGCTGTTGCCGAATACTCA	0.403000														79			54		3.48956e-15	3.7188e-15	0.048971	1	0
ULK2	9706	broad.mit.edu	37	17	19699037	19699037	+	Splice_Site	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:19699037A>G	uc002gwm.4	-	20	2507	c.1998_splice	c.e20-1	p.R666_splice	ULK2_uc002gwn.3_Splice_Site_p.R666_splice	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	666					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTACTGACAGATCTAAAAAGA	0.338000														81			39		0	0	0.069456	0	0
SKIL	6498	broad.mit.edu	37	3	170079130	170079130	+	Silent	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:170079130A>T	uc003fgu.3	+	1	1723	c.1011A>T	c.(1009-1011)ggA>ggT	p.G337G	SKIL_uc011bps.2_Silent_p.G317G|SKIL_uc003fgv.3_Silent_p.G337G|SKIL_uc003fgw.3_Silent_p.G337G	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	337					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATACTTAGGAACACCTGAAG	0.363000														86			28		0	0	0.027356	0	0
C14orf135	64430	broad.mit.edu	37	14	60591759	60591759	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:60591759T>C	uc001xer.4	+	7	2690	c.2168T>C	c.(2167-2169)gTa>gCa	p.V723A	C14orf135_uc001xeq.2_Missense_Mutation_p.V723A|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	957						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		GCCTCAAATGTACTGGAAGAA	0.348000														29			22		0	0	0.069288	0	0
SLC9A5	6553	broad.mit.edu	37	16	67293772	67293772	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:67293772G>A	uc002esm.3	+	11	1828	c.1765G>A	c.(1765-1767)Gta>Ata	p.V589I	SLC9A5_uc010cee.3_Missense_Mutation_p.V294I|SLC9A5_uc010vji.2_Missense_Mutation_p.V93I|AK021876_uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	589					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GATTGACACAGTACGCAGCGG	0.627000														37			55		0	0	0.048971	0	0
TCF25	22980	broad.mit.edu	37	16	89961526	89961526	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:89961526G>T	uc002fpb.2	+	7	991	c.909G>T	c.(907-909)gaG>gaT	p.E303D	TCF25_uc002fpc.2_Missense_Mutation_p.E68D	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	303					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGATCAGGAGATGGCTCGAG	0.572000														26			27		3.6622e-26	4.14481e-26	0.064281	1	0
ITGA7	3679	broad.mit.edu	37	12	56088585	56088585	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:56088585C>T	uc001shh.3	-	14	2405	c.2185G>A	c.(2185-2187)Ggg>Agg	p.G729R	ITGA7_uc001shg.3_Missense_Mutation_p.G725R|ITGA7_uc010sps.2_Missense_Mutation_p.G632R|ITGA7_uc009znw.3_Intron|ITGA7_uc009znx.3_Missense_Mutation_p.G606R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	769					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCGGACCCCTGAGTAGTGC	0.642000														51			70		0	0	0.048971	0	0
HSPG2	3339	broad.mit.edu	37	1	22165520	22165520	+	Silent	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:22165520C>A	uc009vqd.3	-	73	9991	c.9951G>T	c.(9949-9951)gtG>gtT	p.V3317V	HSPG2_uc001bfj.3_Silent_p.V3316V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3316	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTGGAGCTGCACCGTCTCCC	0.677000														44			38		1.47244e-24	1.65367e-24	0.025465	1	0
MPG	4350	broad.mit.edu	37	16	133072	133072	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:133072A>C	uc002cfn.3	+	3	655	c.337A>C	c.(337-339)Aat>Cat	p.N113H	MPG_uc002cfm.3_Missense_Mutation_p.N96H|MPG_uc010bqp.3_Missense_Mutation_p.N96H|MPG_uc002cfo.3_Missense_Mutation_p.N108H	NM_002434	NP_001015054	P29372	3MG_HUMAN	Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA.	113					DNA dealkylation involved in DNA repair|depurination	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCGACTTCCTAATGGCACAGA	0.642000								Base excision repair (BER), DNA glycosylases						292			16		0	0	0.028581	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126125	31126125	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr7:31126125T>A	uc003tca.2	+	9	1086	c.797T>A	c.(796-798)tTc>tAc	p.F266Y	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F266Y|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F266Y|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F245Y|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F266Y|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	266					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						AGGAGATACTTCTACTGGTAC	0.527000														68			18		0	0	0.055883	0	0
EPX	8288	broad.mit.edu	37	17	56281676	56281676	+	Silent	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:56281676T>C	uc002ivq.3	+	11	2159	c.2040T>C	c.(2038-2040)ggT>ggC	p.G680G		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	680					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ACAATACCGGTATCACCACGG	0.512000														98			39		0	0	0.023175	0	0
ZMYND11	10771	broad.mit.edu	37	10	267270	267270	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr10:267270A>T	uc010pzu.2	+	3	753	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	ZMYND11_uc001ifk.3_Missense_Mutation_p.S138C|ZMYND11_uc010pzv.2_Intron|ZMYND11_uc010pzw.2_Intron|ZMYND11_uc001ifm.3_Intron|ZMYND11_uc010pzx.2_Missense_Mutation_p.S138C|ZMYND11_uc001ifn.3_Intron|ZMYND11_uc009xhg.3_Missense_Mutation_p.S121C|ZMYND11_uc010pzy.2_Intron|ZMYND11_uc009xhh.3_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA.	98	Bromo.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGACAGCAGTAGTCCCTGGCA	0.448000														70			41		0	0	0.033182	0	0
SCAP	22937	broad.mit.edu	37	3	47461039	47461039	+	Silent	SNP	C	T	T	rs141351370	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:47461039C>T	uc003crh.1	-	12	1974	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	SCAP_uc011baz.1_Silent_p.P318P|SCAP_uc003crg.2_Silent_p.P181P	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	573					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCAGGGTCCGGGTGGCTGG	0.647000														115			50		0	0	0.048971	0	0
FAM182B	728882	broad.mit.edu	37	20	25848617	25848617	+	RNA	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr20:25848617A>G	uc002wvd.1	-	0		c.170T>C								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggcaggcctgaggctgggatg	0.672000														10			2		0	0	0.004672	0	0
NFATC1	4772	broad.mit.edu	37	18	77170518	77170518	+	Silent	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr18:77170518G>T	uc010xfg.2	+	1	696	c.243G>T	c.(241-243)ccG>ccT	p.P81P	NFATC1_uc002lnc.1_Silent_p.P81P|NFATC1_uc010xff.1_Silent_p.P81P|NFATC1_uc002lnd.3_Silent_p.P81P|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.P81P|NFATC1_uc010xfi.1_Silent_p.P68P|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.P68P|NFATC1_uc002lng.3_Silent_p.P68P|NFATC1_uc010xfk.2_Silent_p.P68P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	81					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D81D(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCATCATCCCGCCGGCGGATC	0.721000														82			57		1.82294e-38	2.1123e-38	0.048971	1	0
TMEM150B	284417	broad.mit.edu	37	19	55824409	55824409	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:55824409C>T	uc010esw.1	-	7	693	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	TMEM150B_uc010yfu.1_Missense_Mutation_p.A174T|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	174						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGCGAGCAGGCGTGGAGGACG	0.682000														18			19		0	0	0.049695	0	0
MDC1	9656	broad.mit.edu	37	6	30668243	30668243	+	Nonstop_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:30668243C>A	uc003nrg.4	-	14	6709	c.6269G>T	c.(6268-6270)tGa>tTa	p.*2090L	MDC1_uc003nrf.4_Nonstop_Mutation_p.*721L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	0					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGAGTTCTCAGGTGGATGA	0.512000								Other conserved DNA damage response genes						112			64		2.66076e-39	3.10777e-39	0.048971	1	0
PPIC	5480	broad.mit.edu	37	5	122364999	122364999	+	Splice_Site	SNP	C	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:122364999C>G	uc003kth.3	-	2	336	c.231_splice	c.e2+1	p.E77_splice	PPIC_uc011cwp.1_Missense_Mutation_p.V78L	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	77	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TTGAGACATACCTCTCCTGTT	0.353000														44			44		0	0	0.036044	0	0
SYNE2	23224	broad.mit.edu	37	14	64606710	64606710	+	Silent	SNP	T	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr14:64606710T>C	uc001xgl.3	+	79	15125	c.14895T>C	c.(14893-14895)caT>caC	p.H4965H	SYNE2_uc001xgm.3_Silent_p.H4965H|SYNE2_uc010apy.3_Silent_p.H1350H|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4965					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTCCCAGCATACTCTGAATT	0.373000														52			34		0	0	0.064281	0	0
CNTN3	5067	broad.mit.edu	37	3	74474021	74474021	+	Silent	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:74474021G>A	uc003dpm.1	-	3	509	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	143	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGGGCCGCAGAGCAGCACAA	0.433000														37			9		0	0	0.069234	0	0
SNRPA	6626	broad.mit.edu	37	19	41265475	41265475	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:41265475G>A	uc002ooz.3	+	2	941	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	129						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAAGGCGGGGGAGCCACCCCC	0.662000														45			38		0	0	0.074837	0	0
FAM48A	55578	broad.mit.edu	37	13	37598530	37598530	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr13:37598530T>G	uc001uwk.3	-	17	1627	c.1379A>C	c.(1378-1380)aAa>aCa	p.K460T	FAM48A_uc010abt.3_Missense_Mutation_p.K461T|FAM48A_uc001uwg.3_Missense_Mutation_p.K460T|FAM48A_uc001uwh.3_Missense_Mutation_p.K461T|FAM48A_uc001uwi.3_Missense_Mutation_p.K460T|FAM48A_uc001uwj.3_Missense_Mutation_p.K461T|FAM48A_uc010tes.1_Missense_Mutation_p.K424T|FAM48A_uc001uwl.1_Missense_Mutation_p.K460T|FAM48A_uc001uwd.3_5'Flank|FAM48A_uc001uwe.3_5'UTR|FAM48A_uc001uwf.3_Missense_Mutation_p.K38T	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	460					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGGTCGATGTTTTACACCCTT	0.353000														27			21		0	0	0.069288	0	0
PTH1R	5745	broad.mit.edu	37	3	46935398	46935398	+	Splice_Site	SNP	T	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:46935398T>G	uc003cqm.3	+	4	279	c.76_splice	c.e4-1	p.V26_splice	PTH1R_uc021wxg.1_Splice_Site_p.V26_splice	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	26						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCTTGGCAGGTGGATGCAGAT	0.572000														12			6		0	0	0.038395	0	0
R3HDM2	22864	broad.mit.edu	37	12	57663774	57663774	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr12:57663774C>A	uc009zpm.1	-	12	1341	c.1306G>T	c.(1306-1308)Gat>Tat	p.D436Y	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.D131Y|R3HDM2_uc001snr.2_Missense_Mutation_p.D163Y|R3HDM2_uc001sns.2_Missense_Mutation_p.D436Y|R3HDM2_uc001snt.2_Missense_Mutation_p.D450Y	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	436	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGAGGTCATCTGCCTGTTGA	0.463000														112			45		5.13769e-22	5.68259e-22	0.048971	1	0
NCL	4691	broad.mit.edu	37	2	232319963	232319963	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr2:232319963C>A	uc002vru.3	-	13	2213	c.2072G>T	c.(2071-2073)cGa>cTa	p.R691L		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	691	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCTGCCTCCTCGGAAGCCTCC	0.512000														66			37		6.05902e-23	6.7528e-23	0.064281	1	0
PITPNB	23760	broad.mit.edu	37	22	28315189	28315189	+	Splice_Site	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr22:28315189A>C	uc011akh.2	-	1	1	c.-71_splice	c.e1-1		PITPNB_uc003adk.3_5'UTR|PITPNB_uc003adl.3_5'UTR|TTC28-AS1_uc003adn.3_5'Flank|TTC28-AS1_uc003ado.3_5'Flank|MIR3199-2_uc021wnn.1_5'Flank	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.						lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCTTCCCGGAACCCCCTCACA	0.682000														73			12		0	0	0.055883	0	0
EFHD2	79180	broad.mit.edu	37	1	15736668	15736668	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:15736668G>T	uc001awh.2	+	0	278	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	67						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCAACCAGGGCATCGGCG	0.697000														31			18		1.33834e-09	1.39569e-09	0.043863	1	0
VANGL2	57216	broad.mit.edu	37	1	160385958	160385958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:160385958C>T	uc001fwb.2	+	3	477	c.178C>T	c.(178-180)Cga>Tga	p.R60*	VANGL2_uc001fwc.2_Nonsense_Mutation_p.R60*	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	60					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTCCACACGAGGGGATGA	0.662000														61			36		0	0	0.023175	0	0
MYH13	8735	broad.mit.edu	37	17	10265744	10265744	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr17:10265744A>T	uc002gmk.1	-	3	371	c.281T>A	c.(280-282)aTg>aAg	p.M94K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	94	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGGTGAGTCATCATGGCCAT	0.468000														101			178		0	0	0.048971	0	0
ARID1B	57492	broad.mit.edu	37	6	157510846	157510846	+	Silent	SNP	A	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:157510846A>C	uc003qqp.3	+	12	3582	c.3582A>C	c.(3580-3582)ccA>ccC	p.P1194P	ARID1B_uc003qqo.3_Silent_p.P1207P|ARID1B_uc003qqn.3_Silent_p.P1247P	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1194					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGAGGTTCCAGGTGACCTGA	0.537000														81			47		0	0	0.048971	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460831	5460831	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:5460831A>G	uc003jdm.4	+	12	1606	c.1384A>G	c.(1384-1386)Aaa>Gaa	p.K462E		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	462										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTTGGTGAAAAACACTGGAC	0.408000														60			20		0	0	0.049695	0	0
C15orf42	90381	broad.mit.edu	37	15	90138786	90138786	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr15:90138786G>T	uc002boe.3	+	6	1844	c.1844G>T	c.(1843-1845)aGa>aTa	p.R615I	C15orf42_uc021sug.1_Missense_Mutation_p.R614I	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	615					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTAGTGGGAGAACAGTGGAT	0.423000														36			37		8.73648e-17	9.44834e-17	0.069456	1	0
CASP9	842	broad.mit.edu	37	1	15844628	15844628	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:15844628delC	uc001awn.3	-	1	640	c.395delG	c.(394-396)ggtfs	p.G132fs	CASP9_uc001awm.2_Frame_Shift_Del_p.G132fs|CASP9_uc001awo.3_Frame_Shift_Del_p.G132fs|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Frame_Shift_Del_p.G49fs	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	132					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCCTCCAGAACCAATGTCCAC	0.517													---	69	---	---	43	---					
RAB7L1	8934	broad.mit.edu	37	1	205740780	205740780	+	Splice_Site	DEL	C	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:205740780delC	uc001hdf.4	-	4	537	c.197_splice	c.e4-1	p.G66_splice	RAB7L1_uc009xbp.3_Splice_Site|RAB7L1_uc001hde.4_Splice_Site_p.G66_splice|RAB7L1_uc010prr.2_Splice_Site_p.G42_splice|RAB7L1_uc009xbq.3_Intron	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	66					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCGCTCCTGCCCTGGGGAGA	0.527													---	80	---	---	30	---					
ARID4B	51742	broad.mit.edu	37	1	235490233	235490235	+	Translation_Start_Site	DEL	ATG	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr1:235490233_235490235delATG	uc021pks.1	-	1					ARID4B_uc001hwq.3_Start_Codon_Del|ARID4B_uc001hwr.3_Start_Codon_Del|ARID4B_uc001hws.4_Start_Codon_Del|ARID4B_uc001hwu.1_Start_Codon_Del|GGPS1_uc001hwv.3_5'Flank|GGPS1_uc001hwx.3_5'Flank|GGPS1_uc001hww.3_5'Flank	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCTGG	0.522													---	103	---	---	56	---					
COL5A2	1290	broad.mit.edu	37	2	189901411	189901411	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr2:189901411delG	uc002uqk.3	-	51	4319	c.4044delC	c.(4042-4044)accfs	p.T1348fs	COL5A2_uc010frx.3_Frame_Shift_Del_p.T924fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1348	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGCCCACCAGGTTTTACGTG	0.378													---	23	---	---	17	---					
CCR5	1234	broad.mit.edu	37	3	46415305	46415307	+	In_Frame_Del	DEL	CAG	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:46415305_46415307delCAG	uc003cpo.4	+	2	1034_1036	c.912_914delCAG	c.(910-915)ttcaga>tta	p.304_305FR>L	CCR5_uc010hjd.3_In_Frame_Del_p.304_305FR>L|CCR5_uc021wxb.1_In_Frame_Del_p.304_305FR>L	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	304					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GGGAGAAGTTCAGAAACTACCTC	0.493													---	209	---	---	168	---					
GSK3B	2932	broad.mit.edu	37	3	119582397	119582398	+	Frame_Shift_Ins	INS	-	C	C			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:119582397_119582398insC	uc003edo.3	-	8	1947_1948	c.964_965insG	c.(964-966)gagfs	p.E322fs	GSK3B_uc003edn.3_Frame_Shift_Ins_p.E335fs|GSK3B_uc003edm.3_5'UTR	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	322	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGGTGTATACTCCAGCAGACGG	0.450													---	84	---	---	39	---					
SEC61A1	29927	broad.mit.edu	37	3	127778945	127778945	+	Splice_Site	DEL	T	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:127778945delT	uc003ekb.3	+	6	537	c.353_splice	c.e6-1	p.L118_splice	SEC61A1_uc003ekc.3_Splice_Site_p.L65_splice|SEC61A1_uc003ekd.3_Splice_Site	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	118					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCAATTCTAGTATTTGGCATG	0.438													---	113	---	---	33	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	-	-	rs2622736	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													---	178	---	---	7	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr5:149216400_149216402delCAG	uc003lrc.3	+	7	2473_2475	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													---	297	---	---	10	---					
PRR3	80742	broad.mit.edu	37	6	30525928	30525928	+	Splice_Site	DEL	A	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr6:30525928delA	uc003nqi.2	+	2	743	c.107_splice	c.e2-1	p.G36_splice	GNL1_uc011dmi.2_5'Flank|GNL1_uc011dmj.2_5'Flank|GNL1_uc011dmk.2_5'Flank|GNL1_uc003nqh.3_5'Flank|PRR3_uc003nqj.2_Intron	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	36	Pro-rich.						nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						TGCTCTTAGGACCACCCAGCC	0.458													---	77	---	---	35	---					
QSER1	79832	broad.mit.edu	37	11	32955335	32955336	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr11:32955335_32955336delGC	uc001mty.3	+	3	2411_2412	c.2144_2145delGC	c.(2143-2145)ggcfs	p.G715fs	QSER1_uc001mtz.1_Frame_Shift_Del_p.G476fs|QSER1_uc001mua.3_Frame_Shift_Del_p.G220fs	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	715	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTAGGGCATGGCCATCAGGCAT	0.411													---	67	---	---	40	---					
ZFP106	64397	broad.mit.edu	37	15	42710119	42710120	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr15:42710119_42710120insA	uc001zpw.3	-	17	5805_5806	c.5478_5479insT	c.(5476-5481)gttgtafs	p.V1826fs	ZFP106_uc001zpu.3_Frame_Shift_Ins_p.V924fs|ZFP106_uc001zpv.3_Frame_Shift_Ins_p.V1011fs|ZFP106_uc001zpx.3_Frame_Shift_Ins_p.V1054fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1826						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AAATGATCTACAACGCCAAATA	0.465													---	33	---	---	20	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:24921737_24921739delCAG	uc002dmu.3	+	14	1992_1994	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_uc002dms.3_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.2_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.3_In_Frame_Del_p.S436del|SLC5A11_uc010vce.2_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.3_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.3_In_Frame_Del_p.S215del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	592					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													---	166	---	---	8	---					
RBL2	5934	broad.mit.edu	37	16	53513071	53513071	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:53513071delA	uc002ehi.4	+	17	2827	c.2709delA	c.(2707-2709)acafs	p.T903fs	RBL2_uc002ehj.3_Frame_Shift_Del_p.T613fs|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	903	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.T903K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCAGGTCACAAAAGAAGATA	0.458													---	52	---	---	73	---					
BCMO1	53630	broad.mit.edu	37	16	81295815	81295821	+	Frame_Shift_Del	DEL	AAGACTT	-	-			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr16:81295815_81295821delAAGACTT	uc002fgn.1	+	3	616_622	c.398_404delAAGACTT	c.(397-405)gaagacttcfs	p.E133fs	BCMO1_uc002fgm.1_Frame_Shift_Del_p.E133fs|BCMO1_uc010vnp.1_Frame_Shift_Del_p.E64fs	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	133					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.G132*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGTGCGGAGAAGACTTCTACGCGACC	0.469													---	203	---	---	77	---					
TYK2	7297	broad.mit.edu	37	19	10464284	10464285	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:10464284_10464285insT	uc002moc.4	-	20	3324_3325	c.2946_2947insA	c.(2944-2949)cccctgfs	p.P982fs	TYK2_uc010dxe.3_Frame_Shift_Ins_p.P797fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	982	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGCTGCCCAGGGGCACGTACT	0.723													---	12	---	---	11	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	226	---	---	7	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-A4-8516-01A-11D-2396-08	TCGA-A4-8516-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb836423-fc3f-4be5-a6a6-3bc134f2f6a9	a350b29c-6d99-40f4-80bb-66973f20b337	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	4	---	---	2	---					
