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
EFCAB6	64800	broad.mit.edu	37	22	43950847	43950847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:43950847C>T	uc003bdy.2	-	26	3864	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	EFCAB6_uc003bdz.2_Missense_Mutation_p.E1032K|EFCAB6_uc010gzi.2_Missense_Mutation_p.E1032K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E410K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1184	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTCAAACTCCTGGGTGATG	0.542000														91			65		0	0	0.014410	0	0
ODZ1	10178	broad.mit.edu	37	X	123554567	123554567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:123554567G>A	uc010nqy.3	-	24	4640	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	ODZ1_uc011muj.2_Missense_Mutation_p.R1525C|ODZ1_uc004euj.3_Missense_Mutation_p.R1519C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1519					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGATGGTACGAATTCGAACA	0.483000														66			26		0	0	0.007291	0	0
ANXA13	312	broad.mit.edu	37	8	124724918	124724918	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124724918C>T	uc003yqt.3	-	3	287	c.214_splice	c.e3+1	p.G72_splice	ANXA13_uc003yqu.3_Splice_Site_p.G31_splice	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	31					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCTCATACCCATTCCTTTG	0.413000														14			15		0	0	0.020292	0	0
NOS1	4842	broad.mit.edu	37	12	117768733	117768733	+	Missense_Mutation	SNP	G	A	A	rs80348085		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:117768733G>A	uc001twn.2	-	1	853	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	NOS1_uc001twm.2_Missense_Mutation_p.R48C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	48	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R48C(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCGCCCCCACGAATCAGGTCA	0.597000														47			11		0	0	0.008291	0	0
PEG3	5178	broad.mit.edu	37	19	57327855	57327855	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:57327855C>T	uc002qnu.2	-	6	2306	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G623E|PEG3_uc002qnv.2_Missense_Mutation_p.G652E|PEG3_uc002qnw.2_Missense_Mutation_p.G528E|PEG3_uc002qnx.2_Missense_Mutation_p.G526E|PEG3_uc010etr.2_Missense_Mutation_p.G652E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	652					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATGGGTTCCCTCTAGTATG	0.398000														33			59		0	0	0.014410	0	0
REXO1	57455	broad.mit.edu	37	19	1821539	1821539	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:1821539G>A	uc002lua.4	-	4	2468	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	REXO1_uc010dsq.3_Silent_p.I100I|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|LOC100288123_uc002lub.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	791						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGTGGGCGATTCGCTTAG	0.637000														49			42		0	0	0.009718	0	0
KCNA1	3736	broad.mit.edu	37	12	5021981	5021981	+	Silent	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:5021981C>A	uc001qnh.3	+	1	2542	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	KCNA1_uc021qts.1_Silent_p.T479T	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	479					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.C478*(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAATTGCACCACTGCTAACC	0.408000														144			5		0.00198382	0.00243836	0.001984	1	0
UBR2	23304	broad.mit.edu	37	6	42631091	42631091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:42631091C>T	uc011dur.2	+	31	3930	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L	UBR2_uc011dus.2_Missense_Mutation_p.P856L|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1211					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCCTTTGCCCCCTTTGTGAA	0.378000														49			7		0	0	0.004482	0	0
CD2	914	broad.mit.edu	37	1	117311301	117311301	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:117311301A>T	uc001egu.4	+	4	981	c.952A>T	c.(952-954)Aca>Tca	p.T318S		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	318	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCCGTCGGGCACACAAGTTCA	0.607000														84			23		0	0	0.018920	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958249	153958249	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:153958249G>A	uc021xgc.1	+	11	2465	c.2181G>A	c.(2179-2181)ggG>ggA	p.G727G	ARHGEF26_uc011bog.1_Silent_p.G727G|ARHGEF26_uc011boh.1_Silent_p.G727G|ARHGEF26_uc011boi.1_5'UTR	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	727	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTTCTCCAGGGAAGAACAGCT	0.423000														17			10		0	0	0.006214	0	0
OR8S1	341568	broad.mit.edu	37	12	48919614	48919614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:48919614C>T	uc010slu.2	+	0	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGTCACCTCTCTTTTGTTGAT	0.473000														48			62		0	0	0.014410	0	0
GFRAL	389400	broad.mit.edu	37	6	55216162	55216162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:55216162C>T	uc003pcm.1	+	4	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	161						integral to membrane	receptor activity	p.P161P(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448000														32			31		0	0	0.009535	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883977	228883977	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228883977C>T	uc002vpq.2	-	6	1640	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	SPHKAP_uc002vpp.2_Silent_p.G531G|SPHKAP_uc010zlx.1_Silent_p.G531G	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	531						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACCACTGCTCCCTGGGGGAA	0.512000														19			56		0	0	0.014410	0	0
DNAH1	25981	broad.mit.edu	37	3	52400750	52400750	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52400750G>A	uc011bef.2	+	36	5872	c.5611_splice	c.e36-1	p.C1871_splice		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1871	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTCCCAGTGTTACAGAGTC	0.607000														36			10		0	0	0.008291	0	0
PER1	5187	broad.mit.edu	37	17	8051093	8051093	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:8051093G>A	uc002gkd.3	-	10	1525	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.A413A	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	429	PAC.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGTTGCGGGCACAGAAGC	0.612000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						20			18		0	0	0.007413	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585181	70585181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:70585181G>A	uc003xyl.3	-	9	3177	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.P769S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	824						integral to membrane|plasma membrane	transporter activity	p.P824fs*>26(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGGAAGGGCCCCGGGTAG	0.582000														52			37		0	0	0.017118	0	0
ZNF643	65243	broad.mit.edu	37	1	40928286	40928286	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:40928286C>T	uc001cfn.2	+	4	927	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF643_uc001cfl.2_Silent_p.P108P|ZNF643_uc001cfm.2_Silent_p.P76P	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			GGCAAATCCCCCTGATGTGCA	0.413000														89			39		0	0	0.008740	0	0
UCP3	7352	broad.mit.edu	37	11	73717422	73717422	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:73717422G>A	uc001our.3	-	2	484	c.129C>T	c.(127-129)atC>atT	p.I43I	UCP3_uc001ous.2_Silent_p.I43I	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	43					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCTCCCCCTGGATCTGAGGGA	0.677000														8			3		0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	21133373	21133373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21133373C>T	uc010vbe.2	-	9	1477	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	DNAH3_uc002die.2_Missense_Mutation_p.E464K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCACTGACTTCAAGTTTGATC	0.398000														46			37		0	0	0.019004	0	0
PCLO	27445	broad.mit.edu	37	7	82578820	82578820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82578820G>A	uc003uhx.2	-	5	11373	c.11084C>T	c.(11083-11085)gCt>gTt	p.A3695V	PCLO_uc003uhv.2_Missense_Mutation_p.A3695V|PCLO_uc010lec.3_Missense_Mutation_p.A660V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3626					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAAAAGGAGCCCTGGAACT	0.463000														112			68		0	0	0.014410	0	0
MINK1	50488	broad.mit.edu	37	17	4789259	4789259	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:4789259C>T	uc010vsl.2	+	8	938	c.694_splice	c.e8+1	p.P232_splice	MINK1_uc010vsk.2_Splice_Site_p.P232_splice|MINK1_uc010vsm.2_Splice_Site_p.P232_splice|MINK1_uc010vsn.2_Splice_Site_p.P232_splice|MINK1_uc010vso.2_Splice_Site_p.P177_splice|MINK1_uc010vsp.2_Splice_Site	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	232	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGGAGCCCCCCGTAAGTTCT	0.567000														34			18		0	0	0.006122	0	0
GNA11	2767	broad.mit.edu	37	19	3118923	3118923	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3118923A>T	uc002lxd.3	+	5	848	c.606_splice	c.e5-1	p.R202_splice	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	202					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCTTTCAGGATGGTGGATGT	0.617000			Mis		uveal melanoma									27			17		0	0	0.010504	0	0
LAMA2	3908	broad.mit.edu	37	6	129419370	129419370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:129419370G>A	uc021zfb.1	+	3	554	c.449G>A	c.(448-450)gGa>gAa	p.G150E	LAMA2_uc003qbn.3_Missense_Mutation_p.G150E|LAMA2_uc003qbo.3_Missense_Mutation_p.G150E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	150	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCCGGCCTGGAAACTGGATT	0.438000														27			24		0	0	0.016522	0	0
EPPK1	83481	broad.mit.edu	37	8	144942944	144942944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144942944C>T	uc003zaa.1	-	0	4491	c.4478G>A	c.(4477-4479)gGg>gAg	p.G1493E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1493						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCCCTCCCAGACCGACA	0.667000														7			5		0	0	0.014758	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140729981	140729981	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140729981C>T	uc003ljo.2	+	0	154	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.L52L	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	52	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAAGGATCTGGGGCTCAG	0.547000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			6		0	0	0.001168	0	0
MMAA	166785	broad.mit.edu	37	4	146576316	146576317	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:146576316_146576317CC>TT	uc003ikh.4	+	6	1072_1073	c.987_988CC>TT	c.(985-990)gcccga>gcTTga	p.R330*	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTATTTCTGCCCGAAGTGGAGA	0.426000														4			26		0	0	0.004672	0	0
LAMC2	3918	broad.mit.edu	37	1	183201804	183201805	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:183201804_183201805GG>AA	uc001gqa.2	+	13	2346_2347	c.2032_2033GG>AA	c.(2032-2034)ggt>AAt	p.G678N	LAMC2_uc001gpz.4_Missense_Mutation_p.G678N|LAMC2_uc010poa.2_Missense_Mutation_p.G378N	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	678	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGATCCCTTGGTCTCCAGTTG	0.530000														55			36		0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10322026	10322026	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10322026C>T	uc002gmm.2	-	4	542	c.447G>A	c.(445-447)aaG>aaA	p.K149K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	149	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCGCTTTTTGCCTC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					104			89		0	0	0.014410	0	0
CCR2	729230	broad.mit.edu	37	3	46401188	46401188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:46401188G>A	uc003cpn.4	+	2	1447	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	321					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATAGCTCTTGGCTGTAGGATT	0.502000														27			46		0	0	0.014410	0	0
TRPV4	59341	broad.mit.edu	37	12	110252270	110252270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:110252270C>T	uc001tpj.2	-	0	427	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TRPV4_uc001tpg.2_Missense_Mutation_p.G77D|TRPV4_uc021rdp.1_Missense_Mutation_p.G111D|TRPV4_uc001tph.2_Missense_Mutation_p.G111D|TRPV4_uc001tpi.2_Missense_Mutation_p.G111D|TRPV4_uc001tpk.2_Missense_Mutation_p.G111D	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	111					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ACGATAGGTGCCGTAGTCAAA	0.547000														26			7		0	0	0.001984	0	0
PEF1	553115	broad.mit.edu	37	1	32098208	32098208	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:32098208G>A	uc001bth.2	-	3	886	c.513C>T	c.(511-513)atC>atT	p.I171I	PEF1_uc021okp.1_Silent_p.I101I|PEF1_uc021okq.1_Silent_p.I36I|PEF1_uc001bte.1_Silent_p.I10I	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	171	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	p.R170H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CGTAGACATCGATGCGGCCTG	0.562000														18			4		0	0	0.014758	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100431479	100431479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:100431479G>A	uc001tgq.3	-	20	4559	c.4330C>T	c.(4330-4332)Ctt>Ttt	p.L1444F	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.L1094F	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1444								p.L1444P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCCTCTGCAAGAGCCATTTTA	0.383000														24			38		0	0	0.005524	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172131	81172131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:81172131G>A	uc002bfw.1	+	3	576	c.316G>A	c.(316-318)Gag>Aag	p.E106K	KIAA1199_uc010unn.1_Missense_Mutation_p.E106K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	106	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAACGGAGGAGAGCTGCATGC	0.527000														59			20		0	0	0.008871	0	0
AP1B1	162	broad.mit.edu	37	22	29745331	29745331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:29745331G>A	uc003afj.3	-	10	1500	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	AP1B1_uc003afl.3_Missense_Mutation_p.S438F|AP1B1_uc003afi.3_Missense_Mutation_p.S438F|AP1B1_uc011ako.2_5'UTR	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	438					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCATCCAGGGAGTCCAGATT	0.587000														79			45		0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40408800	40408800	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:40408800T>A	uc002omp.4	-	7	4047	c.4039A>T	c.(4039-4041)Atc>Ttc	p.I1347F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1347	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGGCACGGATCTGGCCGTTG	0.597000														8			18		0	0	0.006122	0	0
APPBP2	10513	broad.mit.edu	37	17	58531839	58531840	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:58531839_58531840CC>TT	uc002iys.1	-	10	1449_1450	c.1161_1162GG>AA	c.(1159-1164)gaggag>gaAAag	p.E388K	APPBP2_uc010ddl.1_Missense_Mutation_p.E317K	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	388					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATTGCAATCTCCTCTAAAATAA	0.317000														47			50		0	0	0.004672	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24470960	24470960	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:24470960C>T	uc010tcw.2	-	1	186	c.166_splice	c.e1+1	p.G56_splice	C1QTNF9B_uc010tcv.1_Splice_Site_p.Q19_splice|C1QTNF9B_uc001uoz.1_Splice_Site_p.G56_splice|C1QTNF9B_uc010tcx.2_Splice_Site_p.G56_splice	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	56	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGTGAGTACCTGCATCGCCT	0.542000														72			16		0	0	0.008361	0	0
CCR9	10803	broad.mit.edu	37	3	45942763	45942763	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:45942763G>A	uc003coz.2	+	2	663	c.483G>A	c.(481-483)agG>agA	p.R161R	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.R149R|CCR9_uc003cpa.2_Silent_p.R149R|CCR9_uc021wwv.1_Silent_p.R149R	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	161					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGAGAAAAGGCTTTTGTACA	0.478000														26			22		0	0	0.014323	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764284	109764284	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:109764284C>T	uc004eos.1	+	0		c.745C>T								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TGAATGTTTTCCTTTGGCTGT	0.443000														27			15		0	0	0.020292	0	0
ENPP5	59084	broad.mit.edu	37	6	46129099	46129099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:46129099C>T	uc003oxz.1	-	3	1606	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Missense_Mutation_p.M372I|ENPP5_uc003oya.1_Missense_Mutation_p.M466I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	466						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTTCAGCATGCATATCTTGTA	0.328000														13			6		0	0	0.001984	0	0
ZNF563	147837	broad.mit.edu	37	19	12430398	12430398	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:12430398C>T	uc002mtp.3	-	3	679	c.441G>A	c.(439-441)ggG>ggA	p.G147G	ZNF563_uc002mtq.2_Silent_p.G147G	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAAGGCTTTCCCACGTTGTT	0.438000														47			43		0	0	0.011902	0	0
FRY	10129	broad.mit.edu	37	13	32868652	32868652	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:32868652G>C	uc001utx.3	+	59	9224	c.8728G>C	c.(8728-8730)Gag>Cag	p.E2910Q	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.E441Q|FRY_uc010tdx.2_Missense_Mutation_p.E280Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCCATGCTGGAGTGCCTGAA	0.552000														38			43		0	0	0.014410	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:6426893C>T	uc003spx.3	+	1	327	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_uc003spw.3_Missense_Mutation_p.P29L|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000														77			44		0	0	0.014410	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439336	150439336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:150439336G>A	uc022apw.1	+	5	861	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G37S	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGGCAAAACAGGCTGCGGGAA	0.498000														36			39		0	0	0.006230	0	0
ATRX	546	broad.mit.edu	37	X	76907702	76907702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:76907702C>T	uc004ecp.4	-	14	4691	c.4459G>A	c.(4459-4461)Gat>Aat	p.D1487N	ATRX_uc004ecq.4_Missense_Mutation_p.D1449N|ATRX_uc004eco.4_Missense_Mutation_p.D1272N	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1487					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCAGTTTATCATCTTTAAGA	0.428000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							222			69		0	0	0.014410	0	0
KIF7	374654	broad.mit.edu	37	15	90189174	90189174	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:90189174C>T	uc002bof.2	-	7	1949	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	KIF7_uc010upw.1_Silent_p.E111E	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	624	Poly-Glu.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			cctcttcctcctcTGAAGCAG	0.627000														42			33		0	0	0.012213	0	0
C15orf55	256646	broad.mit.edu	37	15	34640724	34640725	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:34640724_34640725CC>TT	uc010ucc.2	+	2	1037_1038	c.655_656CC>TT	c.(655-657)cct>TTt	p.P219F	C15orf55_uc010ucd.2_Missense_Mutation_p.P209F|C15orf55_uc001zif.3_Missense_Mutation_p.P191F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	191						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAAGGAGGTCCTGTGGCCACT	0.574000			T	"""BRD3, BRD4"""	lethal midline carcinoma									29			21		0	0	0.004672	0	0
ZNF532	55205	broad.mit.edu	37	18	56587507	56587507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:56587507C>T	uc010xeg.2	+	2	2185	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	ZNF532_uc002lhp.3_Missense_Mutation_p.S661F|ZNF532_uc002lho.3_Missense_Mutation_p.S663F|ZNF532_uc002lhr.3_Missense_Mutation_p.S661F|ZNF532_uc002lhs.3_Missense_Mutation_p.S661F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGCCTCCTTTCCCATGCCCGT	0.483000														53			40		0	0	0.006999	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597474	31597474	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:31597474C>T	uc003nvb.4	+	13	2355	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Silent_p.A702A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	702	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCCAAGGCCCTGTACCCAG	0.672000														13			11		0	0	0.010729	0	0
OR1S1	219959	broad.mit.edu	37	11	57982436	57982436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:57982436C>T	uc010rkc.2	+	0	220	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCCCATGTATCTCTTCCTTGC	0.438000														38			30		0	0	0.009535	0	0
HYDIN	54768	broad.mit.edu	37	16	71025992	71025992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71025992C>T	uc002ezr.3	-	23	3917	c.3766G>A	c.(3766-3768)Gat>Aat	p.D1256N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1256										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCATTTAAATCCATCTCGGGG	0.458000														30			11		0	0	0.013537	0	0
CADM2	253559	broad.mit.edu	37	3	85984922	85984922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:85984922C>T	uc003dql.3	+	5	685	c.685C>T	c.(685-687)Cca>Tca	p.P229S	CADM2_uc003dqj.3_Missense_Mutation_p.P227S|CADM2_uc003dqk.3_Missense_Mutation_p.P236S|CADM2_uc003dqm.2_Missense_Mutation_p.P119S|CADM2_uc021xay.1_Missense_Mutation_p.P119S|CADM2_uc021xaz.1_Missense_Mutation_p.P119S|CADM2_uc021xba.1_Missense_Mutation_p.P119S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	227	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTAGATACACCATCAGTTAA	0.318000														41			17		0	0	0.004007	0	0
SRPK3	26576	broad.mit.edu	37	X	153048562	153048562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153048562C>T	uc004fik.3	+	12	3360	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SRPK3_uc004fim.3_Missense_Mutation_p.S246F|SRPK3_uc004fil.3_Missense_Mutation_p.S246F|SRPK3_uc004fin.3_Missense_Mutation_p.S246F|SRPK3_uc010nul.3_Missense_Mutation_p.S204F	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	246	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCCCCTCCCGCTCCATA	0.682000														22			12		0	0	0.013537	0	0
ZFHX3	463	broad.mit.edu	37	16	72830885	72830885	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:72830885C>A	uc002fck.3	-	8	6369	c.5696G>T	c.(5695-5697)gGa>gTa	p.G1899V	ZFHX3_uc002fcl.3_Missense_Mutation_p.G985V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1899					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTGCCCTCTCCCCCCTCGGC	0.547000														47			26		4.22769e-11	5.25523e-11	0.006320	1	0
MUC2	4583	broad.mit.edu	37	11	1096455	1096455	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:1096455C>T	uc001lsx.1	+	35	6495	c.6468C>T	c.(6466-6468)atC>atT	p.I2156I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4522						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTTTACATCGACAACTACC	0.572000														33			14		0	0	0.003163	0	0
RP1	6101	broad.mit.edu	37	8	55542625	55542625	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:55542625C>T	uc003xsd.1	+	3	6331	c.6183C>T	c.(6181-6183)atC>atT	p.I2061I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2061					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAATGAAATCTTTAAAGCAG	0.348000														21			19		0	0	0.006122	0	0
NLRC4	58484	broad.mit.edu	37	2	32475335	32475335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:32475335G>A	uc002roi.3	-	3	1859	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	NLRC4_uc021vfq.1_Missense_Mutation_p.S533F|NLRC4_uc002roj.2_Missense_Mutation_p.S533F|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	533					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTGCAAAGATTCCTGTCT	0.463000														54			13		0	0	0.020292	0	0
HUWE1	10075	broad.mit.edu	37	X	53600921	53600921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:53600921G>A	uc004dsp.3	-	46	6503	c.6101C>T	c.(6100-6102)tCa>tTa	p.S2034L	HUWE1_uc004dsn.3_Missense_Mutation_p.S858L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2034					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCTGGAGTTGAAGCTGTTGA	0.453000														36			54		0	0	0.014410	0	0
BPIFC	254240	broad.mit.edu	37	22	32843303	32843303	+	Silent	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:32843303A>G	uc003amn.2	-	2	270	c.270T>C	c.(268-270)ttT>ttC	p.F90F	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	90						extracellular region	lipopolysaccharide binding|phospholipid binding										AGGTATTTGGAAATGAAAAGG	0.463000														40			28		0	0	0.006320	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310211	79310211	+	Silent	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:79310211A>G	uc002beq.3	-	11	2019	c.1644T>C	c.(1642-1644)ttT>ttC	p.F548F	RASGRF1_uc002bep.3_Silent_p.F548F|RASGRF1_uc010blm.1_Silent_p.F470F|RASGRF1_uc002ber.4_Silent_p.F548F|RASGRF1_uc010unh.1_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	548	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCCGATTTTAAAATCCAAGT	0.498000														48			46		0	0	0.014410	0	0
KLHL38	340359	broad.mit.edu	37	8	124659241	124659241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124659241G>A	uc003yqs.1	-	1	1388	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	455										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGAGTTTCTGGAAATGTGATA	0.433000														99			62		0	0	0.014410	0	0
SAMD7	344658	broad.mit.edu	37	3	169656149	169656149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169656149C>T	uc003fgd.3	+	8	1463	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	SAMD7_uc003fge.3_Missense_Mutation_p.S399L|SAMD7_uc011bpo.2_Missense_Mutation_p.S300L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	399										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAACTCTTTCATTTCCTATA	0.338000														34			14		0	0	0.020292	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				26			137		0	0	0.014410	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211155	45211155	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:45211155C>T	uc010xxd.2	+	5	1169	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	321										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCACGATGATCGTGCCCGTGC	0.652000														102			42		0	0	0.010771	0	0
ITGA10	8515	broad.mit.edu	37	1	145533487	145533487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:145533487G>A	uc001eoa.3	+	11	1446	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	ITGA10_uc010oyv.2_Missense_Mutation_p.R326Q|ITGA10_uc009wiw.3_Missense_Mutation_p.R314Q|ITGA10_uc010oyw.2_Missense_Mutation_p.R402Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	457					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTAGACATCGAGGAAAAGTC	0.557000														61			62		0	0	0.014410	0	0
POU2F2	5452	broad.mit.edu	37	19	42621469	42621469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42621469G>A	uc002osp.3	-	4	298	c.236C>T	c.(235-237)cCc>cTc	p.P79L	POU2F2_uc002osn.3_Missense_Mutation_p.P79L|POU2F2_uc002osq.3_Missense_Mutation_p.P79L|POU2F2_uc002osr.2_Missense_Mutation_p.P79L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	79					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CGGCTGAGGGGGCAGGGGTGC	0.652000														63			31		0	0	0.007291	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374792	8374792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:8374792C>T	uc001qui.2	-	6	1580	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	FAM90A1_uc001quh.2_Missense_Mutation_p.G341R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	341							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTACGTGGTCCAAGTTCGGTT	0.667000														6			8		0	0	0.010729	0	0
CD244	51744	broad.mit.edu	37	1	160808741	160808741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:160808741C>T	uc009wtq.3	-	3	994	c.769G>A	c.(769-771)Gag>Aag	p.E257K	CD244_uc001fxa.3_Missense_Mutation_p.E252K|CD244_uc009wtr.3_Missense_Mutation_p.E160K|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	257					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T257N(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GACTGCTTCTCCTTCCTCTTT	0.532000														31			13		0	0	0.016723	0	0
DNM3	26052	broad.mit.edu	37	1	171958197	171958197	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:171958197G>A	uc001gie.3	+	3	674	c.498G>A	c.(496-498)agG>agA	p.R166R	DNM3_uc001gid.4_Silent_p.R166R|DNM3_uc009wwb.2_Silent_p.R166R|DNM3_uc001gif.3_Silent_p.R166R	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	166					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCATCACGAGGGAGAACTGTC	0.443000														13			7		0	0	0.003080	0	0
IL36G	56300	broad.mit.edu	37	2	113742458	113742458	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:113742458G>A	uc002tio.1	+	4	411	c.342G>A	c.(340-342)gtG>gtA	p.V114V	IL36G_uc010fkr.1_Silent_p.V79V	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	114					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P113P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGAGCCCGTGAAACCCTTCC	0.512000														122			22		0	0	0.018920	0	0
TTLL9	164395	broad.mit.edu	37	20	30496420	30496420	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:30496420G>T	uc010gdx.1	+	4	486	c.233G>T	c.(232-234)tGt>tTt	p.C78F	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	78	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTACTGGTGTGACGTCAGC	0.607000														40			15		1.45105e-14	1.80932e-14	0.006122	1	0
GLCCI1	113263	broad.mit.edu	37	7	8099874	8099874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:8099874C>T	uc003srk.3	+	4	1521	c.962C>T	c.(961-963)tCc>tTc	p.S321F		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	321										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAAGAAGTATCCAAGGTAAGG	0.338000														28			17		0	0	0.004007	0	0
OR2G2	81470	broad.mit.edu	37	1	247752549	247752549	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:247752549G>A	uc010pyy.2	+	0	888	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACCTTGAGGATCAAGGAGG	0.403000														132			48		0	0	0.014410	0	0
P2RY8	286530	broad.mit.edu	37	X	1585060	1585060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1585060G>A	uc022brv.1	-	0	392	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.S131F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	131						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGCGCTTGGAGCTGAGCGG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""									10			17		0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561952	11561952	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:11561952C>T	uc001ash.4	+	1	1041	c.903C>T	c.(901-903)atC>atT	p.I301I	PTCHD2_uc001asi.1_Silent_p.I301I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	301					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.S300I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCATGAGATCGAGCGCAAGA	0.632000														27			8		0	0	0.004482	0	0
REG3G	130120	broad.mit.edu	37	2	79254178	79254178	+	Missense_Mutation	SNP	C	T	T	rs147133557		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:79254178C>T	uc002snw.3	+	3	299	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	REG3G_uc002snx.3_Missense_Mutation_p.P72S|REG3G_uc010ffu.3_Intron	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	72	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P72H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGAAGCGGCCCTCTGGAAA	0.557000														30			63		0	0	0.014410	0	0
EPHA7	2045	broad.mit.edu	37	6	93967995	93967995	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:93967995G>A	uc003poe.3	-	10	2173	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	EPHA7_uc003pof.3_Silent_p.F639F|EPHA7_uc011eac.2_Silent_p.F640F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	644	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGACTTCACCGAATTCTCCTG	0.348000														16			42		0	0	0.014410	0	0
ERP27	121506	broad.mit.edu	37	12	15091353	15091353	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:15091353G>A	uc001rco.3	-	0	111	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	30						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTTACCTGAGGATTTCTcaa	0.478000														45			10		0	0	0.010729	0	0
CASS4	57091	broad.mit.edu	37	20	55012399	55012399	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:55012399G>A	uc002xxp.2	+	2	441	c.216G>A	c.(214-216)acG>acA	p.T72T	CASS4_uc002xxq.4_Silent_p.T72T|CASS4_uc010zze.1_Silent_p.T72T|CASS4_uc002xxr.2_Silent_p.T72T|CASS4_uc010gio.2_Silent_p.T72T	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAATCCTCACGGAGGTCGCTG	0.627000														27			30		0	0	0.006320	0	0
OR8G2	26492	broad.mit.edu	37	11	124095594	124095594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124095594C>T	uc010saf.2	+	0	197	c.197C>T	c.(196-198)tCt>tTt	p.S66F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	66						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GGGCTCAGTTCTCACCTGCAT	0.493000														88			45		0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38754581	38754581	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:38754581G>A	uc021yzh.1	+	17	2545	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	DNAH8_uc003ooe.2_Silent_p.G595G	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAACAGGGAAGTTGCTGG	0.378000														25			13		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82582974	82582974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82582974G>A	uc003uhx.2	-	4	7584	c.7295C>T	c.(7294-7296)tCa>tTa	p.S2432L	PCLO_uc003uhv.2_Missense_Mutation_p.S2432L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2363	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTTTAGGTGAAGTTGGTgg	0.512000														8			3		0	0	0.009096	0	0
ACO2	50	broad.mit.edu	37	22	41919916	41919916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:41919916G>A	uc003bac.3	+	11	1475	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_001098	NP_001089	Q99798	ACON_HUMAN	Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA.	485					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CGCAAACCCCGAGACCCATGC	0.612000														17			15		0	0	0.007413	0	0
TIAM2	26230	broad.mit.edu	37	6	155561736	155561736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:155561736G>A	uc003qqb.3	+	17	4514	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	TIAM2_uc003qqe.3_Missense_Mutation_p.E1081K|TIAM2_uc010kjj.3_Missense_Mutation_p.E614K|TIAM2_uc003qqf.3_Missense_Mutation_p.E457K|TIAM2_uc011efl.1_Missense_Mutation_p.E417K|TIAM2_uc003qqg.3_Missense_Mutation_p.E393K|TIAM2_uc003qqh.3_Missense_Mutation_p.E6K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1081					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGACCGCGGGAGAATCAGGA	0.557000														24			35		0	0	0.017118	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														2			18		0	0	0.007413	0	0
KIAA0913	23053	broad.mit.edu	37	10	75548522	75548522	+	Silent	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75548522T>A	uc001jvj.3	+	1	558	c.303T>A	c.(301-303)ccT>ccA	p.P101P	KIAA0913_uc001jve.3_Silent_p.P101P|KIAA0913_uc009xrl.3_Silent_p.P101P|KIAA0913_uc001jvf.3_Silent_p.P101P|KIAA0913_uc001jvh.3_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	101							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CACCAGTGCCTGAGCAGCTAC	0.517000														5			21		0	0	0.008871	0	0
ATP2C2	9914	broad.mit.edu	37	16	84432141	84432141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:84432141G>A	uc010chj.3	+	1	225	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E46K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	46					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATCGAGAAAGAGAAGAAGGT	0.433000														18			17		0	0	0.006122	0	0
MAP4K1	11184	broad.mit.edu	37	19	39104893	39104894	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:39104893_39104894CC>TT	uc002oix.1	-	5	516_517	c.408_409GG>AA	c.(406-411)agggac>agAAac	p.D137N	MAP4K1_uc002oiy.1_Missense_Mutation_p.D137N|MAP4K1_uc010xug.2_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	137	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.R136S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCTTGATGTCCCTGTGTATCT	0.604000														58			23		0	0	0.004672	0	0
ICT1	3396	broad.mit.edu	37	17	73016679	73016679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:73016679C>T	uc002jmm.3	+	4	465	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_001545	NP_001536	Q14197	ICT1_HUMAN	Homo sapiens immature colon carcinoma transcript 1 (ICT1), mRNA.	155					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GCAGAAAATTCGAGACATGAT	0.463000														33			25		0	0	0.021523	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:24188792G>A	uc003xdy.3	+	11	1316	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_uc003xdx.3_Silent_p.G411G|ADAM28_uc011kzz.2_Silent_p.G178G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G98G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000														19			16		0	0	0.006122	0	0
FAM83E	54854	broad.mit.edu	37	19	49113145	49113145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49113145G>A	uc002pjn.2	-	2	811	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	249										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTAGGATCCTGAGATGACCCT	0.667000														4			18		0	0	0.007413	0	0
PIGV	55650	broad.mit.edu	37	1	27121647	27121647	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:27121647C>A	uc001bmz.3	+	2	1485	c.1122C>A	c.(1120-1122)ttC>ttA	p.F374L	PIGV_uc001bna.3_Missense_Mutation_p.F374L|PIGV_uc010ofg.2_Missense_Mutation_p.F139L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	374					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATCTTGGATTCCTCAGTCCTC	0.532000														49			75		1.25742e-37	1.5793e-37	0.014410	1	0
KRT36	8689	broad.mit.edu	37	17	39642730	39642730	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39642730G>A	uc002hwt.3	-	6	1302	c.1302C>T	c.(1300-1302)acC>acT	p.T434T		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	434	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGGAGCCGGGGTGCAGGGCA	0.622000														23			12		0	0	0.013537	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360060	149360060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:149360060C>T	uc003lrh.3	+	2	1172	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	302						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TAAGACCAATCTCTGTGATCT	0.443000														28			11		0	0	0.008291	0	0
FFAR2	2867	broad.mit.edu	37	19	35941572	35941572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35941572G>A	uc002nzg.2	+	1	1036	c.956G>A	c.(955-957)gGa>gAa	p.G319E	FFAR2_uc010eea.3_Missense_Mutation_p.G319E	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	319						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGGTCAAGGAGAAGGGATG	0.592000														39			16		0	0	0.004990	0	0
MYB	4602	broad.mit.edu	37	6	135521270	135521270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:135521270G>A	uc003qfh.3	+	11	1956	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.R465K|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Missense_Mutation_p.R91K|MYB_uc003qfw.3_Missense_Mutation_p.R277K|MYB_uc010kgi.3_Missense_Mutation_p.R465K|MYB_uc003qfq.3_Missense_Mutation_p.R583K|MYB_uc010kgj.3_Missense_Mutation_p.R430K|MYB_uc003qfo.3_Missense_Mutation_p.R380K|MYB_uc003qfu.3_Missense_Mutation_p.R462K|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.R570K|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.R465K	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	509					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCTCTCCAAGAACTCCTACA	0.368000			T	NFIB	adenoid cystic carcinoma									36			42		0	0	0.008740	0	0
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:173996663G>A	uc021xhm.1	+	5	1312	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	NLGN1_uc003fio.1_Missense_Mutation_p.R291Q|NLGN1_uc010hww.1_Missense_Mutation_p.R331Q|NLGN1_uc003fip.1_Missense_Mutation_p.R291Q	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	308					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358000														3			6		0	0	0.001984	0	0
ACADM	34	broad.mit.edu	37	1	76190487	76190487	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:76190487C>T	uc001dgw.4	+	0	445	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CR936677_uc001dgv.3_5'Flank|ACADM_uc010orc.1_Silent_p.F5F|ACADM_uc010ord.2_5'UTR|ACADM_uc009wbr.3_Silent_p.F5F|ACADM_uc010ore.2_5'UTR|ACADM_uc010orf.2_5'UTR|ACADM_uc009wbp.3_Silent_p.F5F	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CAGCGGGGTTCGGGCGATGCT	0.647000														25			34		0	0	0.005524	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300654	103300654	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103300654C>T	uc002tca.3	+	4	1426	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	428						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTTTAAGGACCAGTTCATCA	0.448000														93			16		0	0	0.003163	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573478	140573478	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140573478C>T	uc003lix.3	+	0	1527	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	451	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCGCCTTCACCCAAACCT	0.607000														40			33		0	0	0.014410	0	0
CHRM3	1131	broad.mit.edu	37	1	240071510	240071510	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:240071510G>A	uc021plc.1	+	0	759	c.759G>A	c.(757-759)agG>agA	p.R253R	CHRM3_uc001hyp.3_Silent_p.R253R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	253					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TATACTGGAGGATCTATAAGG	0.473000														87			18		0	0	0.008871	0	0
PTPN23	25930	broad.mit.edu	37	3	47453656	47453656	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:47453656G>A	uc003crf.1	+	21	4242	c.4146G>A	c.(4144-4146)cgG>cgA	p.R1382R	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.R1252R|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1382	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCATCAGCGGCCGCTGCACA	0.622000														52			21		0	0	0.010504	0	0
SLC22A3	6581	broad.mit.edu	37	6	160863793	160863793	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:160863793G>A	uc003qti.3	+	8	1316	c.1289_splice	c.e8-1	p.G430_splice	SLC22A3_uc011efx.2_Splice_Site	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	430						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTGTTTGCAGGAATAGCATGG	0.398000														21			12		0	0	0.016723	0	0
LGI2	55203	broad.mit.edu	37	4	25005151	25005151	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:25005151C>T	uc003grf.2	-	7	1659	c.1560G>A	c.(1558-1560)agG>agA	p.R520R		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	520						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGAAATCTCTCCTGTCGGTGG	0.398000														5			26		0	0	0.005443	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518644	113518644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:113518644C>T	uc010ljy.1	-	3	2534	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	835					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCACATTTCTCCCTGTCATGT	0.373000														25			18		0	0	0.007413	0	0
MYH3	4621	broad.mit.edu	37	17	10543484	10543484	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10543484G>A	uc002gmq.2	-	21	2599	c.2511C>T	c.(2509-2511)atC>atT	p.I837I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	837					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGAGGGGCTTGATCTTGAAGA	0.458000														54			55		0	0	0.014410	0	0
PGK2	5232	broad.mit.edu	37	6	49754126	49754126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:49754126C>T	uc003ozu.3	-	0	928	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	259					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCTCTTCATCAAACAGGGAA	0.398000														24			30		0	0	0.007291	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484033	60484033	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:60484033G>A	uc010wpc.2	+	9	909	c.838_splice	c.e9+1	p.R280_splice	EFCAB3_uc002izu.2_Splice_Site_p.R228_splice	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	228							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGAGCTCAAGAGTAAGAGCC	0.393000														9			13		0	0	0.013537	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279639	47279639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:47279639C>T	uc001cqn.4	+	5	763	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F	CYP4B1_uc009vyl.1_Missense_Mutation_p.L63F|CYP4B1_uc001cqm.4_Missense_Mutation_p.L226F|CYP4B1_uc009vym.3_Missense_Mutation_p.L212F|CYP4B1_uc010omk.2_Missense_Mutation_p.L63F|CYP4B1_uc010oml.1_Missense_Mutation_p.L64F	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	226					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCAGCAGCGCCTTGTGTCCTT	0.582000														123			48		0	0	0.014410	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801379	137801379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:137801379C>T	uc003vtz.3	+	8	1039	c.952C>T	c.(952-954)Cct>Tct	p.P318S	AKR1D1_uc011kqf.2_Missense_Mutation_p.P277S|AKR1D1_uc011kqe.1_Missense_Mutation_p.S290F|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	318					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGCGATCATCCTGAATACCC	0.448000														71			73		0	0	0.014410	0	0
NLRP7	199713	broad.mit.edu	37	19	55451766	55451766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55451766C>T	uc002qih.4	-	3	497	c.421G>A	c.(421-423)Gga>Aga	p.G141R	NLRP7_uc010esk.3_Missense_Mutation_p.G141R|NLRP7_uc002qig.4_Missense_Mutation_p.G141R|NLRP7_uc002qii.4_Missense_Mutation_p.G141R|NLRP7_uc010esl.3_Missense_Mutation_p.G169R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	141							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAATGTCTCCTTGCCAAAAG	0.458000														204			228		0	0	0.014410	0	0
HAVCR2	84868	broad.mit.edu	37	5	156531730	156531730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:156531730C>T	uc003lwk.2	-	2	679	c.425G>A	c.(424-426)aGa>aAa	p.R142K		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	142						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGAAGTCTCTCTGCCGAGT	0.493000														96			68		0	0	0.014410	0	0
SLC9A9	285195	broad.mit.edu	37	3	143214261	143214261	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:143214261C>T	uc003evn.3	-	9	1328	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	373					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGATGACGTTCTCCGCCAAAA	0.348000														69			22		0	0	0.007291	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21031009C>T	uc010vbe.2	-	40	5959	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1987					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTTATCATCCATGCCCATG	0.423000														47			41		0	0	0.010771	0	0
NISCH	11188	broad.mit.edu	37	3	52510543	52510543	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52510543C>T	uc003ded.4	+	7	980	c.846C>T	c.(844-846)gtC>gtT	p.V282V	NISCH_uc003dec.1_Silent_p.V282V	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	282	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGACTGCCGTCATCCCCACTT	0.552000														35			16		0	0	0.004007	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997507	30997507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:30997507C>T	uc002eaf.2	+	2	410	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	HSD3B7_uc010cac.2_Missense_Mutation_p.H102Y|HSD3B7_uc002eag.2_Missense_Mutation_p.H102Y|HSD3B7_uc002eah.2_Missense_Mutation_p.H102Y	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	102					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGACCATCCATGAGGTCAA	0.617000														14			9		0	0	0.010729	0	0
ABCB11	8647	broad.mit.edu	37	2	169833113	169833113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:169833113G>A	uc002ueo.1	-	11	1408	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	428	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAAGGATAATGGAAGGTCACA	0.398000														39			11		0	0	0.010729	0	0
TRIP12	9320	broad.mit.edu	37	2	230655911	230655911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230655911C>T	uc002vpx.1	-	29	4500	c.4391G>A	c.(4390-4392)aGa>aAa	p.R1464K	TRIP12_uc021vxw.1_Missense_Mutation_p.R1449K|TRIP12_uc002vpy.1_Missense_Mutation_p.R1146K|TRIP12_uc002vpw.1_Missense_Mutation_p.R1416K	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1416					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGCTCTTCCTCTTTTACCACC	0.368000														38			72		0	0	0.014410	0	0
MTUS2	23281	broad.mit.edu	37	13	29600240	29600240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:29600240G>A	uc001usl.4	+	0	1493	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	469						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGTGTTATGGTTTTGGTGTT	0.502000														33			21		0	0	0.016522	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														264			33		0	0	0.021022	0	0
OR10K1	391109	broad.mit.edu	37	1	158436035	158436035	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158436035C>T	uc010pij.2	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTAAAAATCCCTTCCTCCG	0.458000														55			37		0	0	0.015359	0	0
MYH8	4626	broad.mit.edu	37	17	10301815	10301815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10301815C>T	uc002gmm.2	-	29	4219	c.4124G>A	c.(4123-4125)aGa>aAa	p.R1375K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1375					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTATTTGGTTCTCCACTGGGC	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					171			115		0	0	0.014410	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123988472C>T	uc001pzu.3	+	3	345	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_uc001pzr.3_Missense_Mutation_p.P46S|VWA5A_uc001pzs.3_Missense_Mutation_p.P46S|VWA5A_uc010sae.2_Missense_Mutation_p.P62S|VWA5A_uc001pzt.3_Missense_Mutation_p.P46S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000														93			25		0	0	0.004656	0	0
ACSM5	54988	broad.mit.edu	37	16	20451668	20451668	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20451668G>A	uc002dhe.3	+	13	1806	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	553					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTCACTAGGTGGCCTTTGTTT	0.433000														21			14		0	0	0.010504	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664498	169664498	+	RNA	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169664498G>A	uc011bpp.2	-	1		c.3305C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		TCCTCTGCAAGGGGTCCCTGC	0.507000														48			12		0	0	0.013537	0	0
ZFHX3	463	broad.mit.edu	37	16	72984558	72984558	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:72984558A>C	uc002fck.3	-	2	3699	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	ZFHX3_uc002fcl.3_Missense_Mutation_p.V95G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1009					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACTTCTGCACGTGCTTGTC	0.602000														28			29		0	0	0.008361	0	0
OR5K4	403278	broad.mit.edu	37	3	98073499	98073499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:98073499G>A	uc011bgv.2	+	0	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGGAGATAAAGATACACCAGT	0.323000														99			43		0	0	0.010771	0	0
MYH4	4622	broad.mit.edu	37	17	10367812	10367812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10367812C>T	uc002gmn.3	-	6	736	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	209	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E209D(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAGGCAGGTTCCTCTTTTTTC	0.423000														29			31		0	0	0.010818	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	159971	159971	+	RNA	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrGL000192.1:159971G>A	uc010yih.1	-	11		c.2451C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATGTTAAGGAAGGGTACGC	0.602000														29			11		0	0	0.010729	0	0
AQP8	343	broad.mit.edu	37	16	25232792	25232792	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:25232792A>G	uc002doc.3	+	2	357	c.275A>G	c.(274-276)aAc>aGc	p.N92S		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	92					cellular response to cAMP	integral to plasma membrane	water channel activity	p.N92S(3)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGACACTTCAACCCTGCGGTG	0.617000														74			55		0	0	0.014410	0	0
OR4K1	79544	broad.mit.edu	37	14	20404734	20404734	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:20404734C>T	uc001vwj.2	+	0	968	c.909C>T	c.(907-909)aaC>aaT	p.N303N		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGAGAAACCGTCATGTGA	0.428000														82			13		0	0	0.016723	0	0
SCN5A	6331	broad.mit.edu	37	3	38603922	38603922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:38603922C>T	uc021wvo.1	-	20	3999	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	SCN5A_uc021wvk.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvl.1_Missense_Mutation_p.R1262Q|SCN5A_uc021wvm.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvn.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvp.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvq.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvr.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvs.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvt.1_Missense_Mutation_p.R1315Q|SCN5A_uc021wvu.1_Missense_Mutation_p.R1262Q|SCN5A_uc021wvv.1_Missense_Mutation_p.R1316Q|SCN5A_uc021wvj.1_Missense_Mutation_p.R1128Q|SCN5A_uc021wvi.1_Missense_Mutation_p.R1182Q|SCN5A_uc021wvw.1_Missense_Mutation_p.R926Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1316					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCCTCAAATCGTGACAGAGC	0.652000														6			9		0	0	0.004482	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														16			4		0	0	0.009096	0	0
CSMD1	64478	broad.mit.edu	37	8	3081320	3081320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:3081320G>A	uc022aqr.1	-	27	4805	c.4415C>T	c.(4414-4416)cCt>cTt	p.P1472L	CSMD1_uc011kwj.2_Missense_Mutation_p.P865L|CSMD1_uc003wqe.3_Missense_Mutation_p.P629L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1473	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCCCAGGAGGATACGGCTG	0.468000														53			38		0	0	0.005524	0	0
PSG4	5672	broad.mit.edu	37	19	43411267	43411267	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:43411267G>A	uc002ovj.1	-	4	1146	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.L189L|PSG4_uc002ovg.1_Silent_p.L349L	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	350	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.463000														105			135		0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9304264	9304264	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:9304264T>G	uc001qvl.3	-	32	4246	c.4217A>C	c.(4216-4218)gAa>gCa	p.E1406A	PZP_uc009zgl.3_Missense_Mutation_p.E1192A	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTAGATCTTTCAAGCTGGAG	0.428000														8			14		0	0	0.020292	0	0
KLF12	11278	broad.mit.edu	37	13	74420001	74420001	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:74420001G>A	uc001vjf.3	-	3	855	c.633C>T	c.(631-633)gtC>gtT	p.V211V	KLF12_uc010aeq.3_Silent_p.V211V|KLF12_uc001vjg.3_Silent_p.V211V	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	211					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAGCGGCACGACAATAGTGT	0.473000														47			46		0	0	0.014410	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825924	111825924	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:111825924C>T	uc009wgb.3	+	4		c.1263C>T								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		GGACTACATCCATGTCATGAC	0.542000														14			29		0	0	0.009535	0	0
HCFC1	3054	broad.mit.edu	37	X	153214805	153214806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153214805_153214806CC>TT	uc004fjp.3	-	25	6628_6629	c.6100_6101GG>AA	c.(6100-6102)ggt>AAt	p.G2034N		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	2034					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCACTGACCATCGGCCTTA	0.579000														103			24		0	0	0.004672	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634036	70634036	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:70634036G>A	uc001xly.3	-	1	1858	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	SLC8A3_uc001xlw.3_Silent_p.I368I|SLC8A3_uc001xlx.3_Silent_p.I368I|SLC8A3_uc001xlz.3_Silent_p.I368I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	368					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTCTTCAGGATATTGCCTG	0.507000														57			47		0	0	0.014410	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554361	85554362	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:85554361_85554362GG>AA	uc021vjw.1	-	1	827_828	c.493_494CC>TT	c.(493-495)cct>TTt	p.P165F	TGOLN2_uc002spb.3_Missense_Mutation_p.P165F|TGOLN2_uc002soz.3_Missense_Mutation_p.P165F|TGOLN2_uc021vjx.1_Missense_Mutation_p.P165F|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Missense_Mutation_p.P165F	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	165	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TGACTTGCTAGGGCTGTCTTTT	0.599000														582			138		0	0	0.004672	0	0
MEP1B	4225	broad.mit.edu	37	18	29795083	29795083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:29795083G>A	uc002kxj.4	+	11	1665	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	540	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCTAAAGTGGGAACAGTGGC	0.408000														84			64		0	0	0.014410	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722725	145722725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:145722725C>T	uc003zdd.3	+	1	1061	c.148C>T	c.(148-150)Cct>Tct	p.P50S	AK094577_uc003zde.1_Missense_Mutation_p.G130E|PPP1R16A_uc003zdf.3_Missense_Mutation_p.P50S	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	50				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAAGAAGGGTCCTGGGGAGCG	0.652000														21			6		0	0	0.001984	0	0
OPRD1	4985	broad.mit.edu	37	1	29189627	29189627	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:29189627C>T	uc001brf.1	+	2	1193	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	317					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	ACCCCGTGCTCTACGCTTTCC	0.687000														13			6		0	0	0.001168	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068392	89068392	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:89068392C>T	uc001xww.3	+	10	1704	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	ZC3H14_uc010twd.2_Silent_p.S493S|ZC3H14_uc010twe.2_Silent_p.S493S|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Silent_p.S38S|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	493						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTGCAGATTCCCTTCGGGTAC	0.423000														94			79		0	0	0.014410	0	0
OR2G6	391211	broad.mit.edu	37	1	248685728	248685728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248685728C>T	uc001ien.1	+	0	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGTACCTTCAACCGGCCAA	0.443000														107			22		0	0	0.021523	0	0
ARSH	347527	broad.mit.edu	37	X	2945448	2945448	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:2945448G>A	uc011mhj.2	+	6	1131	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	377						integral to membrane	arylsulfatase activity|metal ion binding	p.E377K(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGATCAATGAGCCCACCAGCT	0.527000														62			17		0	0	0.007413	0	0
EEF1D	1936	broad.mit.edu	37	8	144663478	144663478	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144663478G>A	uc003yyq.2	-	3	1687	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Silent_p.S412S|EEF1D_uc011lki.2_Silent_p.S70S|EEF1D_uc003yyv.3_Silent_p.S46S|EEF1D_uc003yyu.3_Silent_p.S70S|EEF1D_uc011lkk.2_Silent_p.S70S|EEF1D_uc003yyt.3_Silent_p.S436S|EEF1D_uc003yyr.3_Silent_p.S436S|EEF1D_uc003yys.3_Silent_p.S70S|EEF1D_uc011lkl.2_Silent_p.S70S	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	70					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGGTGCCGCTGGAGGCCCCGG	0.687000														16			20		0	0	0.012319	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263866	140263866	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140263866G>A	uc003lif.2	+	0	2013	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.E671E|PCDHAC2_uc003lid.3_Silent_p.E671E	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGAGAGCGGCCAAG	0.652000														34			19		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179554052	179554052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179554052G>A	uc021vsy.1	-	120	28469	c.28244C>T	c.(28243-28245)cCt>cTt	p.P9415L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6076L|TTN_uc010fre.1_Missense_Mutation_p.P526L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10342	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTTCCGAGGAACAGGTTT	0.358000														18			36		0	0	0.007835	0	0
NWD1	284434	broad.mit.edu	37	19	16899851	16899851	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:16899851G>A	uc002neu.4	+	12	3212	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	NWD1_uc002net.4_Silent_p.K795K|NWD1_uc002nev.4_Silent_p.K724K|NWD1_uc021uqg.1_Silent_p.K795K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	930							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTTCAAAGGATTACACGC	0.502000														40			26		0	0	0.005443	0	0
TFDP3	51270	broad.mit.edu	37	X	132352067	132352067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:132352067C>T	uc004exb.1	-	0	310	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	74						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTTGGGCTTCCTACCACAGG	0.522000														46			19		0	0	0.010504	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893218	1893218	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:1893218C>T	uc001qjm.3	+	6	1208	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ADIPOR2_uc001qjn.3_Silent_p.F337F	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	337					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AACGCTTTTTCCCTGGCAAAT	0.527000														19			26		0	0	0.007291	0	0
PTPRF	5792	broad.mit.edu	37	1	44083153	44083153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:44083153C>T	uc001cjr.3	+	23	4449	c.4109C>T	c.(4108-4110)tCa>tTa	p.S1370L	PTPRF_uc001cjs.3_Missense_Mutation_p.S1361L|PTPRF_uc001cju.3_Missense_Mutation_p.S759L|PTPRF_uc009vwt.3_Missense_Mutation_p.S930L|PTPRF_uc001cjv.3_Missense_Mutation_p.S841L|PTPRF_uc001cjw.3_Missense_Mutation_p.S596L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1370	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGAGAATTCAAACCTGGAG	0.557000														66			29		0	0	0.008361	0	0
TNR	7143	broad.mit.edu	37	1	175355430	175355430	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175355430G>A	uc001gkp.1	-	5	1596	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	TNR_uc009wwu.1_Silent_p.D505D	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	505	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCGTGGGGCCGTCAATGACTG	0.468000														33			13		0	0	0.016723	0	0
DIO2	1734	broad.mit.edu	37	14	80669282	80669282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:80669282C>T	uc021rxa.1	-	2	733	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.R191Q|DIO2_uc010asy.3_Missense_Mutation_p.R191Q	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	191					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGCACATCGATCTTCCTG	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			44		0	0	0.011902	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621213	41621213	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:41621213A>T	uc003gvz.4	+	5	631	c.214A>T	c.(214-216)Agc>Tgc	p.S72C	LIMCH1_uc003gvt.1_Missense_Mutation_p.S72C|LIMCH1_uc003gwe.4_Missense_Mutation_p.S231C|LIMCH1_uc003gvu.4_Missense_Mutation_p.S231C|LIMCH1_uc003gvv.4_Missense_Mutation_p.S231C|LIMCH1_uc003gvw.4_Missense_Mutation_p.S231C|LIMCH1_uc003gvx.4_Missense_Mutation_p.S231C|LIMCH1_uc003gvy.4_Missense_Mutation_p.S72C|LIMCH1_uc003gwa.4_Missense_Mutation_p.S72C|LIMCH1_uc011byu.2_Missense_Mutation_p.S77C|LIMCH1_uc003gwc.4_Missense_Mutation_p.S77C|LIMCH1_uc003gwd.4_Missense_Mutation_p.S77C|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Missense_Mutation_p.S79C	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	231	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGGAGAGGAAGCGACTCTGA	0.502000														40			172		0	0	0.014410	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871384	20871384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20871384G>A	uc002dhz.3	-	2	880	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	247	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTGAAGTTAAGGAACATGTTC	0.517000														45			61		0	0	0.014410	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080232	70080232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:70080232G>A	uc003heh.3	-	0	218	c.209C>T	c.(208-210)tCc>tTc	p.S70F	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	70					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S70Y(2)|p.A69T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTAAGAGTGGATGCATCATT	0.363000														3			27		0	0	0.009535	0	0
RNLS	55328	broad.mit.edu	37	10	90074235	90074236	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:90074235_90074236CC>TT	uc001kfe.3	-	5	998_999	c.863_864GG>AA	c.(862-864)tgg>tAA	p.W288*	RNLS_uc010qms.1_Nonsense_Mutation_p.W205*|RNLS_uc001kfd.2_Nonsense_Mutation_p.W288*|RNLS_uc009xtj.3_Nonsense_Mutation_p.W120*	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 1, mRNA.	288						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GTGAATGTCTCCATTTTTGGCA	0.421000														8			21		0	0	0.004672	0	0
KIAA0564	23078	broad.mit.edu	37	13	42265478	42265478	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:42265478G>A	uc001uyj.3	-	31	3914	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1282						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTCTCCACCAGAAGCCATTTG	0.418000														47			41		0	0	0.011902	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:93754684G>A	uc001pep.2	+	0	307	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000														61			30		0	0	0.013726	0	0
KIF21A	55605	broad.mit.edu	37	12	39752007	39752007	+	Silent	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:39752007A>G	uc001rly.3	-	7	1608	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	KIF21A_uc001rlx.3_Silent_p.L396L|KIF21A_uc001rlz.3_Silent_p.L396L|KIF21A_uc010skl.2_Silent_p.L396L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTCCATCTGAAGTCGTGTGA	0.398000														81			78		0	0	0.014410	0	0
BIN2	51411	broad.mit.edu	37	12	51690899	51690899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:51690899C>T	uc001ryg.3	-	7	704	c.652G>A	c.(652-654)Gat>Aat	p.D218N	BIN2_uc009zlz.3_Missense_Mutation_p.D186N|BIN2_uc001ryh.3_Missense_Mutation_p.D94N|BIN2_uc010sng.2_Missense_Mutation_p.D192N	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	218	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TAGAAGACATCCCTCAAGTTG	0.438000														22			31		0	0	0.012213	0	0
HYOU1	10525	broad.mit.edu	37	11	118916501	118916502	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118916501_118916502GG>AA	uc001puu.2	-	24	3122_3123	c.2929_2930CC>TT	c.(2929-2931)cct>TTt	p.P977F	HYOU1_uc001put.2_Missense_Mutation_p.P943F|HYOU1_uc010ryu.1_Missense_Mutation_p.P935F|HYOU1_uc010ryv.1_Missense_Mutation_p.P866F|HYOU1_uc001pux.3_Missense_Mutation_p.P977F	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	977						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCTGCTCCAGGACCTCCTAAC	0.564000														47			10		0	0	0.004672	0	0
NMS	129521	broad.mit.edu	37	2	101097606	101097606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:101097606G>A	uc002tan.1	+	7	398	c.391G>A	c.(391-393)Gga>Aga	p.G131R		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	131					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCGACCTGGGGACGACCCTT	0.418000														60			102		0	0	0.014410	0	0
PRG4	10216	broad.mit.edu	37	1	186266058	186266058	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:186266058C>T	uc001gru.4	+	1	102	c.51C>T	c.(49-51)ttC>ttT	p.F17F	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.F17F|PRG4_uc009wyl.3_Silent_p.F17F|PRG4_uc009wym.3_Silent_p.F17F|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	17					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCTGTTTTCGTGATTCAGC	0.358000														35			11		0	0	0.016723	0	0
MUC16	94025	broad.mit.edu	37	19	9077248	9077248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9077248G>A	uc002mkp.3	-	2	10402	c.10198C>T	c.(10198-10200)Ccc>Tcc	p.P3400S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3401	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGTGGAGGGAATGGCTGTG	0.438000														88			60		0	0	0.014410	0	0
CTRC	11330	broad.mit.edu	37	1	15771107	15771107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:15771107G>A	uc001awi.1	+	5	523	c.500G>A	c.(499-501)gGc>gAc	p.G167D	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	167	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.N166K(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCAACGGCCCCATTGCT	0.642000														40			6		0	0	0.003080	0	0
ALG8	79053	broad.mit.edu	37	11	77835109	77835109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:77835109G>A	uc001oza.1	-	2	391	c.326C>T	c.(325-327)tCc>tTc	p.S109F	ALG8_uc001oyz.1_Missense_Mutation_p.S109F|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	109					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			AAAGATGACGGAAAATCTCTG	0.358000														29			27		0	0	0.004656	0	0
RP1L1	94137	broad.mit.edu	37	8	10469082	10469082	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:10469082G>A	uc003wtc.3	-	3	2755	c.2526C>T	c.(2524-2526)tcC>tcT	p.S842S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	842					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TAGCCTCAGGGGAGGGTCCCC	0.726000														11			8		0	0	0.003080	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364469	142364469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142364469G>A	uc003vzx.3	+	1	138	c.104G>A	c.(103-105)gGa>gAa	p.G35E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_5'Flank|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAAAGACAGGAAAGAGGATT	0.443000														7			12		0	0	0.010729	0	0
L1CAM	3897	broad.mit.edu	37	X	153137758	153137758	+	Silent	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153137758A>G	uc004fjb.3	-	3	357	c.249T>C	c.(247-249)ggT>ggC	p.G83G	L1CAM_uc004fjc.3_Silent_p.G83G|L1CAM_uc010nuo.3_Silent_p.G78G|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Silent_p.G78G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	83	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACGGTCACACCCAGCTCTT	0.602000														28			22		0	0	0.012319	0	0
OR2T5	401993	broad.mit.edu	37	1	248651910	248651910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248651910G>A	uc001iem.1	+	0	21	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TCACCAGGATGGCCAACCACA	0.478000														16			15		0	0	0.003163	0	0
LRCH4	4034	broad.mit.edu	37	7	100176056	100176056	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:100176056G>A	uc003uvj.3	-	5	867	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	272					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGGGCCAGGTCCCCCAGG	0.642000														53			45		0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175046761	175046761	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175046761G>A	uc001gkl.1	+	1	320	c.207G>A	c.(205-207)ggG>ggA	p.G69G	TNN_uc010pmx.1_Silent_p.G69G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	69					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGACGATGGGGCTTCGCTCT	0.587000														47			7		0	0	0.001984	0	0
PLG	5340	broad.mit.edu	37	6	161152147	161152147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:161152147G>A	uc003qtm.4	+	10	1433	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	441	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTTACCACAGACCCCAGCGT	0.502000														32			43		0	0	0.010771	0	0
OR4F6	390648	broad.mit.edu	37	15	102346647	102346647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:102346647C>T	uc010utr.2	+	0	725	c.725C>T	c.(724-726)gCt>gTt	p.A242V		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGCTGTCAGCTCATGTCATT	0.343000														69			60		0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137814025	137814025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:137814025G>A	uc002tva.1	+	1	82	c.82G>A	c.(82-84)Gga>Aga	p.G28R	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493000														35			10		0	0	0.010729	0	0
BZRAP1	9256	broad.mit.edu	37	17	56399757	56399757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:56399757G>A	uc002ivx.4	-	9	2205	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	BZRAP1_uc010dcs.3_Missense_Mutation_p.A385V|BZRAP1_uc010wnt.2_Missense_Mutation_p.A445V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	445						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCGCTGGGCCACCTCCCG	0.602000														38			33		0	0	0.021022	0	0
CACNA1A	773	broad.mit.edu	37	19	13346508	13346509	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:13346508_13346509GG>AA	uc002mwy.3	-	31	5222_5223	c.4986_4987CC>TT	c.(4984-4989)ttccga>ttTTga	p.R1663*	CACNA1A_uc002mwx.3_Nonsense_Mutation_p.R369*|CACNA1A_uc010dzc.2_Nonsense_Mutation_p.R1189*|CACNA1A_uc010xnd.2_Nonsense_Mutation_p.R1666*|CACNA1A_uc021ups.1_Nonsense_Mutation_p.R1663*|CACNA1A_uc010xne.2_Nonsense_Mutation_p.R1666*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.R1663*|CACNA1A_uc021upt.1_Nonsense_Mutation_p.R1664*|CACNA1A_uc002mwv.3_Nonsense_Mutation_p.R180*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1664					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R1664*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGGGCAGCTCGGAAGAGGCGGA	0.554000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			12		0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118772485	118772485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118772485G>A	uc001pug.3	-	5	2932	c.1967C>T	c.(1966-1968)aCc>aTc	p.T656I	BCL9L_uc009zal.3_Missense_Mutation_p.T651I	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	656					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTAGGGCATGGTGTTCTGGGC	0.642000														36			5		0	0	0.014758	0	0
OR9A2	135924	broad.mit.edu	37	7	142723335	142723335	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142723335C>T	uc003wcc.1	-	0	885	c.885G>A	c.(883-885)gaG>gaA	p.E295E		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTCGGAGGGCCTCTTTGACTT	0.433000														83			47		0	0	0.014410	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072213	17072213	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:17072213G>T	uc002zlp.1	-	0	1488	c.1228C>A	c.(1228-1230)Cca>Aca	p.P410T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	410					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAGCTCCTGGAATCAGTCTG	0.552000														56			22		4.7796e-09	5.92907e-09	0.004656	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43535717	43535717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:43535717G>A	uc002ija.3	-	5	1567	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	PLEKHM1_uc010wjm.2_Missense_Mutation_p.S438F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S415F|PLEKHM1_uc002ijc.3_Intron	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	466					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCCCCTGTAAGAAGCTATTGG	0.532000														30			18		0	0	0.006122	0	0
OR4D1	26689	broad.mit.edu	37	17	56233249	56233249	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:56233249C>T	uc010wno.2	+	0	735	c.735C>T	c.(733-735)atC>atT	p.I245I	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCCACATCATCGTGGTGTCCA	0.512000														46			43		0	0	0.010771	0	0
ATP4A	495	broad.mit.edu	37	19	36050083	36050083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:36050083G>A	uc002oal.1	-	7	1096	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	356					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGTCAGGGACAGGCAGAC	0.622000														77			41		0	0	0.007835	0	0
TRPC7	57113	broad.mit.edu	37	5	135583368	135583368	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:135583368C>T	uc003lbn.2	-	6	1857	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	TRPC7_uc010jef.2_Silent_p.A481A|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.A96A|TRPC7_uc010jeh.2_Silent_p.A484A|TRPC7_uc010jei.2_Silent_p.A429A	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	545					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACGGCTATCGCGTAGAGCC	0.517000														33			20		0	0	0.016522	0	0
C14orf102	55051	broad.mit.edu	37	14	90756590	90756590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:90756590G>A	uc001xyi.2	-	9	2437	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	C14orf102_uc010atp.1_Missense_Mutation_p.S240F|C14orf102_uc001xyj.2_Missense_Mutation_p.S504F	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	735							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTGTAACCAGGAGAAGCAGAG	0.473000														29			20		0	0	0.008871	0	0
CITED1	4435	broad.mit.edu	37	X	71522679	71522679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:71522679C>T	uc011mqc.2	-	2	317	c.119G>A	c.(118-120)gGc>gAc	p.G40D	CITED1_uc011mqd.2_Missense_Mutation_p.G14D|CITED1_uc004eas.3_Missense_Mutation_p.G14D|CITED1_uc004eat.3_Missense_Mutation_p.G14D	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	14					SMAD protein signal transduction|apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of Wnt receptor signaling pathway|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	LBD domain binding|chromatin binding|co-SMAD binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					aggTGAGGTGCCACCCTTGAC	0.527000														12			6		0	0	0.001168	0	0
GPR116	221395	broad.mit.edu	37	6	46839726	46839726	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:46839726G>T	uc003oyo.3	-	10	1554	c.1265C>A	c.(1264-1266)tCt>tAt	p.S422Y	GPR116_uc011dwj.1_5'Flank|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S280Y|GPR116_uc003oyq.3_Missense_Mutation_p.S422Y|GPR116_uc010jzi.1_Missense_Mutation_p.S94Y|GPR116_uc003oyr.2_Missense_Mutation_p.S422Y	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	422	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGCAGCTAGAATCTATGTC	0.453000														6			18		1.96292e-10	2.4375e-10	0.010504	1	0
UNC79	57578	broad.mit.edu	37	14	94155060	94155060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94155060G>A	uc001ybv.1	+	42	6694	c.6611G>A	c.(6610-6612)gGa>gAa	p.G2204E	UNC79_uc001ybs.1_Missense_Mutation_p.G2182E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2359						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTTTGGGGGACATCTCAAA	0.493000														45			32		0	0	0.010818	0	0
GRIA3	2892	broad.mit.edu	37	X	122551517	122551517	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:122551517G>T	uc004etq.4	+	10	2057	c.1765G>T	c.(1765-1767)Gaa>Taa	p.E589*	GRIA3_uc004etr.4_Nonsense_Mutation_p.E589*|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Nonsense_Mutation_p.E573*	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	589					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACAATGAAGAACCTCGTGA	0.433000														127			52		5.13769e-22	6.4261e-22	0.014410	1	0
MAGI2	9863	broad.mit.edu	37	7	77973208	77973208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:77973208C>T	uc003ugx.3	-	8	1549	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	MAGI2_uc003ugy.3_Missense_Mutation_p.S432N|MAGI2_uc010ldx.1_Missense_Mutation_p.S41N|MAGI2_uc010ldy.1_Missense_Mutation_p.S41N|MAGI2_uc011kgr.1_Missense_Mutation_p.S264N|MAGI2_uc011kgs.1_Missense_Mutation_p.S269N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	432	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCCATGTTGCTCTTTTTTAG	0.463000														35			25		0	0	0.018920	0	0
C4BPA	722	broad.mit.edu	37	1	207305077	207305077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:207305077G>A	uc001hfo.3	+	7	1270	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	359	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCATACCAAGGATGTGAGGGT	0.373000														44			7		0	0	0.001984	0	0
PCSK6	5046	broad.mit.edu	37	15	101968166	101968166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:101968166C>T	uc002bxa.2	-	6	1065	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PCSK6_uc010bpd.3_Missense_Mutation_p.G122R|PCSK6_uc002bwy.3_Missense_Mutation_p.G251R|PCSK6_uc010bpe.3_Missense_Mutation_p.G248R|PCSK6_uc002bxb.2_Missense_Mutation_p.G251R|PCSK6_uc002bxc.1_Missense_Mutation_p.G251R|PCSK6_uc002bxd.1_Missense_Mutation_p.G251R|PCSK6_uc002bxe.3_Missense_Mutation_p.G251R|PCSK6_uc002bxg.1_Missense_Mutation_p.G251R	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	252	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAACTTCTCCCGCACAACGA	0.527000														8			5		0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535829	69535829	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:69535829G>A	uc021xow.1	-	0	666	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	170				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGACTGTACAGAAAGGGTATG	0.408000														36			150		0	0	0.014410	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222375	118222375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:118222375C>T	uc004era.4	-	10	2818	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	940										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCACGGAATCGCTCTGTTTT	0.512000														17			26		0	0	0.005443	0	0
EN2	2020	broad.mit.edu	37	7	155255077	155255077	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:155255077C>T	uc003wmb.3	+	1	946	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCAGGTCTCGAAAACCAAA	0.582000														107			59		0	0	0.014410	0	0
MASTL	84930	broad.mit.edu	37	10	27454413	27454413	+	Silent	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:27454413T>A	uc001itm.3	+	5	1359	c.756T>A	c.(754-756)ccT>ccA	p.P252P	MASTL_uc001itl.3_Silent_p.P252P|MASTL_uc009xkw.2_Silent_p.P252P|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	252	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGTATGCCCTATGTCTGTAG	0.413000														16			59		0	0	0.014410	0	0
GIPC3	126326	broad.mit.edu	37	19	3589500	3589500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3589500G>A	uc002lyd.4	+	3	679	c.652G>A	c.(652-654)Ggg>Agg	p.G218R		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	218										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGACCAGCGGGAGGGAGAC	0.612000														26			25		0	0	0.004656	0	0
ABCB9	23457	broad.mit.edu	37	12	123434428	123434428	+	Missense_Mutation	SNP	G	A	A	rs151235593		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123434428G>A	uc001udm.4	-	3	1064	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	ABCB9_uc021rfo.1_Missense_Mutation_p.L252F|ABCB9_uc021rfp.1_Missense_Mutation_p.L252F|ABCB9_uc001udo.4_Missense_Mutation_p.L252F|ABCB9_uc010taj.2_Missense_Mutation_p.L252F|ABCB9_uc001udq.3_Missense_Mutation_p.L34F|ABCB9_uc021rfq.1_Missense_Mutation_p.L252F|ABCB9_uc001udr.3_Missense_Mutation_p.L252F	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	252	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCAAATATGAGGGTAAAAATG	0.502000														85			37		0	0	0.010771	0	0
DDX25	29118	broad.mit.edu	37	11	125778110	125778110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:125778110G>A	uc001qcz.4	+	4	472	c.331G>A	c.(331-333)Gga>Aga	p.G111R	DDX25_uc010sbk.2_Missense_Mutation_p.G111R	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	111					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GTTACTAAAAGGAATCTATGC	0.378000														8			6		0	0	0.001984	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430263	41430263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41430263C>T	uc010ehg.1	+	0	94	c.86C>T	c.(85-87)aCc>aTc	p.T29I	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.T29I|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCCCATGGCACCCTCCCACCA	0.577000														32			48		0	0	0.014410	0	0
TLR8	51311	broad.mit.edu	37	X	12938651	12938651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:12938651C>T	uc004cvd.3	+	2	1716	c.1546C>T	c.(1546-1548)Cca>Tca	p.P516S	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.P498S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	498					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCATTGGGCCAAACCAATT	0.373000														17			25		0	0	0.018920	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677461	19677461	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:19677461C>T	uc002wrl.3	+	13	1709	c.1512C>T	c.(1510-1512)acC>acT	p.T504T		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	504						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGTTACACCCTGGGGATTC	0.572000														60			30		0	0	0.010818	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272439	11272439	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:11272439C>T	uc021tcy.1	+	23	3284	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	CLEC16A_uc002dao.3_Silent_p.L1016L|CLEC16A_uc002dap.3_Silent_p.L105L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	1018								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCACAGCCTCCGCAGCCTCA	0.697000														30			20		0	0	0.010504	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663741	169663741	+	RNA	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169663741G>A	uc011bpp.2	-	1		c.4062C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		GCTCCTCGTGGAAAACAAAGT	0.473000														37			56		0	0	0.014410	0	0
GTF2I	2969	broad.mit.edu	37	7	74114635	74114635	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:74114635C>T	uc003uau.3	+	4	802	c.432C>T	c.(430-432)gaC>gaT	p.D144D	GTF2I_uc003uat.3_Silent_p.D144D|GTF2I_uc003uav.3_Silent_p.D144D|GTF2I_uc003uaw.3_Silent_p.D144D|GTF2I_uc003uay.3_Silent_p.D144D|GTF2I_uc003uax.3_Silent_p.D144D|BC070376_uc003uaz.3_Non-coding_Transcript	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	144					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGCGAGACCAGTCGGCTG	0.483000														117			81		0	0	0.014410	0	0
SERINC3	10955	broad.mit.edu	37	20	43132535	43132535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:43132535G>A	uc002xme.3	-	7	1110	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SERINC3_uc002xmf.1_Missense_Mutation_p.P326S|SERINC3_uc010ggs.1_Missense_Mutation_p.P319S|SERINC3_uc010zwp.1_Missense_Mutation_p.P271S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	326						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CTCTTTGATGGTGGAGTAGGG	0.433000														38			41		0	0	0.005524	0	0
WDR96	80217	broad.mit.edu	37	10	105971772	105971772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:105971772G>A	uc001kxw.3	-	4	844	c.728C>T	c.(727-729)aCt>aTt	p.T243I	WDR96_uc001kxx.4_Missense_Mutation_p.T243I|WDR96_uc001kxy.1_Missense_Mutation_p.T243I|WDR96_uc001kxz.3_Missense_Mutation_p.T243I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	243										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TACCCGGAAAGTCTCTGCCTC	0.517000														3			27		0	0	0.005443	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273929	10273929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:10273929C>T	uc010uym.2	-	2	650	c.340G>A	c.(340-342)Gat>Aat	p.D114N	GRIN2A_uc002czo.4_Missense_Mutation_p.D114N|GRIN2A_uc002czr.4_Missense_Mutation_p.D114N|GRIN2A_uc010buk.3_Missense_Mutation_p.D114N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	114					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGATAAAATCCAGCATCTGG	0.602000														53			31		0	0	0.008361	0	0
MYO7B	4648	broad.mit.edu	37	2	128341869	128341869	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128341869A>T	uc002top.3	+	12	1569	c.1516A>T	c.(1516-1518)Atc>Ttc	p.I506F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	506	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCATGAGCATCATCTCCCT	0.612000														68			16		0	0	0.007413	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358731	7358731	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:7358731C>T	uc002ghb.3	+	8	1214	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CHRNB1_uc010vty.2_Silent_p.F319F|CHRNB1_uc010vtz.1_Silent_p.F225F	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	391					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ATGAATATTTCATCCGGAAGC	0.537000														69			44		0	0	0.011902	0	0
PTPRK	5796	broad.mit.edu	37	6	128302348	128302348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:128302348C>T	uc003qbk.3	-	24	3988	c.3621G>A	c.(3619-3621)atG>atA	p.M1207I	PTPRK_uc010kfc.3_Missense_Mutation_p.M1214I|PTPRK_uc003qbj.3_Missense_Mutation_p.M1208I|PTPRK_uc011ebu.2_Missense_Mutation_p.M1230I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1207	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.F1207F(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCAGCATGTCCATGAAACGGT	0.453000														23			13		0	0	0.013537	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366341	27366341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:27366341G>A	uc009xku.1	-	8	1175	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ANKRD26_uc001itg.2_Missense_Mutation_p.H54Y|ANKRD26_uc001ith.2_Missense_Mutation_p.H335Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	335						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAGGTAGGATGAGAAAAGCAC	0.378000														16			48		0	0	0.014410	0	0
PTCHD2	57540	broad.mit.edu	37	1	11590963	11590963	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:11590963G>A	uc001ash.4	+	16	3241	c.3103_splice	c.e16-1	p.G1035_splice		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1035					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTTGGGAAAGGGTAGTGTTG	0.602000														65			103		0	0	0.014410	0	0
ITGB4	3691	broad.mit.edu	37	17	73738433	73738433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:73738433C>T	uc002jpg.3	+	23	2832	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I	ITGB4_uc002jph.3_Missense_Mutation_p.T882I|ITGB4_uc002jpi.4_Missense_Mutation_p.T882I|ITGB4_uc010dgp.1_Silent_p.H894H|ITGB4_uc002jpj.3_Missense_Mutation_p.T882I	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	882					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAAGACCACACCATTGTGGAC	0.642000														17			15		0	0	0.004007	0	0
TNC	3371	broad.mit.edu	37	9	117810748	117810748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:117810748G>A	uc004bjj.4	-	15	5055	c.4643C>T	c.(4642-4644)tCc>tTc	p.S1548F	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1548	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCCATCCAGGAAACTGTGAA	0.502000														3			26		0	0	0.006320	0	0
SIT1	27240	broad.mit.edu	37	9	35650537	35650537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:35650537C>T	uc003zxe.1	-	1	295	c.198G>A	c.(196-198)tgG>tgA	p.W66*	SIT1_uc022bgl.1_5'UTR	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	66					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCCTGGTCCACTGGGACA	0.607000														10			49		0	0	0.014410	0	0
DCLK3	85443	broad.mit.edu	37	3	36763055	36763055	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:36763055G>A	uc003cgi.2	-	2	2039	c.1548C>T	c.(1546-1548)acC>acT	p.T516T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	516	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G515A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGTAAGTTGGGGTCCCACACA	0.413000														27			36		0	0	0.019004	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968404	64968404	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:64968404G>A	uc001jmn.3	-	9	3325	c.3025C>T	c.(3025-3027)Cag>Tag	p.Q1009*	JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q790*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q721*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q827*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q827*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q46*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1009					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGTCTCCTGGGGTGGCCTC	0.398000														13			68		0	0	0.014410	0	0
OR56A3	390083	broad.mit.edu	37	11	5969167	5969167	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5969167C>T	uc010qzt.2	+	0	591	c.591C>T	c.(589-591)acC>acT	p.T197T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V196I(1)|p.V196V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGATGTCACCATCAATCACC	0.468000														43			23		0	0	0.012319	0	0
JPH4	84502	broad.mit.edu	37	14	24040602	24040602	+	Silent	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:24040602T>A	uc001wkq.2	-	5	2256	c.1338A>T	c.(1336-1338)gtA>gtT	p.V446V	JPH4_uc010tnr.1_Silent_p.V111V|JPH4_uc001wkr.2_Silent_p.V446V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	446					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CGTTCTCATATACCCCAGGGC	0.657000														31			27		0	0	0.009535	0	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	T	T	rs147710831		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:39311416C>T	uc003jlv.4	-	6	1023	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.R311C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000														37			26		0	0	0.018920	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308114	46308114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46308114C>T	uc002pdm.3	-	2	1220	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	RSPH6A_uc002pdl.3_Missense_Mutation_p.G86E	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	350						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTTTGATTCCCAGGATCTT	0.622000														36			14		0	0	0.004990	0	0
CYP20A1	57404	broad.mit.edu	37	2	204161618	204161618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:204161618C>T	uc010zif.2	+	12	2022	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	CYP20A1_uc002uzv.4_Missense_Mutation_p.S459L|CYP20A1_uc002uzx.4_Missense_Mutation_p.S357L|CYP20A1_uc002uzy.4_Missense_Mutation_p.S357L|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Missense_Mutation_p.S189L	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	459						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATCACTGTCTCAAAGAGATAT	0.318000														18			21		0	0	0.008871	0	0
BLZF1	8548	broad.mit.edu	37	1	169351425	169351425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169351425C>T	uc001gfx.2	+	5	1360	c.923C>T	c.(922-924)tCt>tTt	p.S308F	BLZF1_uc001gfy.3_Missense_Mutation_p.S308F|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	308					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCAGTAAATTCTCATCTTCTG	0.418000														44			26		0	0	0.005443	0	0
CHRM4	1132	broad.mit.edu	37	11	46406896	46406896	+	Silent	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:46406896G>T	uc001nct.1	-	0	1212	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	404					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTAGCAGAATGGCAAAGATCG	0.602000														17			13		2.27111e-07	2.80864e-07	0.013537	1	0
PDE7B	27115	broad.mit.edu	37	6	136468578	136468578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:136468578C>T	uc003qgp.3	+	3	559	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R138C	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	86					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.L85F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGCTGCTTCGTGGAATTAT	0.483000														34			41		0	0	0.013114	0	0
OR2M5	127059	broad.mit.edu	37	1	248308485	248308485	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248308485C>T	uc010pze.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGACTTCATCCTCCTGG	0.443000														197			32		0	0	0.015359	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196614	133196614	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:133196614C>T	uc003ytj.3	-	3	703	c.478_splice	c.e3-1	p.E160_splice	KCNQ3_uc003yti.3_Splice_Site_p.E40_splice|KCNQ3_uc010mdt.3_Splice_Site_p.E160_splice	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	160					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAAATGTCTCCTGCATGGAA	0.493000														68			42		0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49069133	49069133	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:49069133G>A	uc004dnb.3	-	32	4031	c.3969C>T	c.(3967-3969)tcC>tcT	p.S1323S	CACNA1F_uc010nip.3_Silent_p.S1312S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1323					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTACCTGGAAGGACTTGATGA	0.517000														17			10		0	0	0.008291	0	0
DMBT1	1755	broad.mit.edu	37	10	124380834	124380834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:124380834C>T	uc001lgk.1	+	40	5265	c.5159C>T	c.(5158-5160)cCc>cTc	p.P1720L	DMBT1_uc001lgl.1_Missense_Mutation_p.P1710L|DMBT1_uc001lgm.1_Missense_Mutation_p.P1092L|DMBT1_uc021qaf.1_Missense_Mutation_p.P1720L|DMBT1_uc021qag.1_Missense_Mutation_p.P1710L|DMBT1_uc021qah.1_Missense_Mutation_p.P1092L|DMBT1_uc009xzz.1_Missense_Mutation_p.P1720L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.P423L|DMBT1_uc009yac.1_Missense_Mutation_p.P34L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1720	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGAGCTGCCCCCACAAAGGC	0.612000														14			76		0	0	0.014410	0	0
CHRM3	1131	broad.mit.edu	37	1	240071705	240071705	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:240071705G>A	uc021plc.1	+	0	954	c.954G>A	c.(952-954)aaG>aaA	p.K318K	CHRM3_uc001hyp.3_Silent_p.K318K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	318					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCACAACCAAGAGCTGGAAAC	0.542000														47			9		0	0	0.004482	0	0
SPEN	23013	broad.mit.edu	37	1	16259334	16259334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:16259334C>T	uc001axk.1	+	10	6803	c.6599C>T	c.(6598-6600)cCa>cTa	p.P2200L	SPEN_uc010obp.1_Missense_Mutation_p.P2159L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2200	Interaction with MSX2 (By similarity).				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCCTTGCCCCAGAGGACAGG	0.577000														30			51		0	0	0.014410	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420403	69420403	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:69420403G>A	uc004afn.3	+	12	1405	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A4 (ANKRD20A4), mRNA.	431										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AATTTCCCAAGAAGCTGAAGG	0.353000														119			9		0	0	0.013537	0	0
TACC2	10579	broad.mit.edu	37	10	123903146	123903146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:123903146C>T	uc001lfv.3	+	6	6119	c.5759C>T	c.(5758-5760)tCg>tTg	p.S1920L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1920						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACATAGTTTCGCCATCTGCC	0.597000											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			39		0	0	0.007835	0	0
FAM209B	388799	broad.mit.edu	37	20	55108414	55108414	+	Missense_Mutation	SNP	C	T	T	rs140276541		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:55108414C>T	uc002xxz.3	+	0	113	c.17C>T	c.(16-18)tCg>tTg	p.S6L	FAM209B_uc010zzh.2_Intron	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	6						integral to membrane											ACGCTGAAATCGTCCCTGGTC	0.572000														98			73		0	0	0.014410	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837650	124837650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:124837650C>T	uc003ehw.4	-	7	1032	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	SLC12A8_uc003ehv.4_Missense_Mutation_p.R292Q|SLC12A8_uc010hrz.1_Missense_Mutation_p.E166K|SLC12A8_uc003eht.4_Missense_Mutation_p.R93Q|SLC12A8_uc010hry.3_Missense_Mutation_p.R45Q	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	292					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AAGGGCCTCTCGAGTGCAGAT	0.552000														16			10		0	0	0.008291	0	0
PRC1	9055	broad.mit.edu	37	15	91527277	91527277	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:91527277A>G	uc002bqm.3	-	2	395	c.238T>C	c.(238-240)Tgc>Cgc	p.C80R	PRC1_uc002bqn.3_Missense_Mutation_p.C80R|PRC1_uc002bqo.3_Missense_Mutation_p.C80R|PRC1_uc010uqs.2_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.C28R	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	80	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AACTCGCTGCACAGAGTGTTC	0.493000														371			328		0	0	0.014410	0	0
C10orf71	118461	broad.mit.edu	37	10	50530868	50530868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:50530868C>T	uc021pqb.1	+	0	278	c.278C>T	c.(277-279)tCg>tTg	p.S93L	C10orf71_uc021pqa.1_Missense_Mutation_p.S92L|C10orf71_uc021pqc.1_Missense_Mutation_p.S93L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	93										endometrium(1)	1						ACGGAACATTCGGGCTGGGCG	0.577000														12			45		0	0	0.014410	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:111155953C>T	uc004epl.1	-	2	1385	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TRPC5_uc004epm.1_Missense_Mutation_p.E156K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(4)|p.Y155*(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000														76			25		0	0	0.018920	0	0
OR4F15	390649	broad.mit.edu	37	15	102358510	102358510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:102358510G>A	uc010uts.2	+	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAGCATGATGGGAAACCTTGT	0.418000														79			64		0	0	0.014410	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:7111361C>T	uc001mfc.2	+	0	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	337	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662000														16			6		0	0	0.003080	0	0
ASS1	445	broad.mit.edu	37	9	133355822	133355822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:133355822G>A	uc010mza.3	+	11	1560	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	ASS1_uc004bzm.3_Missense_Mutation_p.G275E|ASS1_uc004bzn.3_Missense_Mutation_p.G275E	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	275					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGCTTCATTGGAATGAAGTCC	0.602000														3			16		0	0	0.006122	0	0
UBE3C	9690	broad.mit.edu	37	7	156961790	156961790	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:156961790C>T	uc010lqs.3	+	2	481	c.169C>T	c.(169-171)Cga>Tga	p.R57*	UBE3C_uc003wnf.2_Intron|UBE3C_uc003wng.2_Nonsense_Mutation_p.R57*	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	57	Cis-determinant of acceptor ubiquitin- binding.|IQ.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCATTTATTCGAGGCTATAG	0.363000														27			28		0	0	0.009535	0	0
ZNF786	136051	broad.mit.edu	37	7	148769063	148769063	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:148769063G>A	uc003wfh.2	-	3	938	c.801C>T	c.(799-801)ccC>ccT	p.P267P	ZNF786_uc011kuk.1_Silent_p.P230P|ZNF786_uc003wfi.2_Silent_p.P181P	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTTCCGGAAGGGGCCCCTCC	0.672000														24			13		0	0	0.020292	0	0
STAP2	55620	broad.mit.edu	37	19	4325533	4325533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4325533G>A	uc002mab.3	-	9	1030	c.839C>T	c.(838-840)cCc>cTc	p.P280L	STAP2_uc002mac.3_Missense_Mutation_p.P280L|STAP2_uc021unb.1_Missense_Mutation_p.P280L|STAP2_uc021unc.1_Missense_Mutation_p.P280L|STAP2_uc002mad.3_Missense_Mutation_p.P173L	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	280	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGTGCAGGGTGCAGGACC	0.622000														42			36		0	0	0.015359	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261270	21261270	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21261270A>G	uc010bwp.1	+	1	426	c.383A>G	c.(382-384)aAc>aGc	p.N128S	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	128										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AACATCATGAACCCCAAGAAG	0.517000														24			18		0	0	0.007413	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998925	83998925	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:83998925C>T	uc002fha.3	+	6	996	c.996C>T	c.(994-996)ttC>ttT	p.F332F	OSGIN1_uc002fhb.3_Silent_p.F249F|OSGIN1_uc002fhc.3_Silent_p.F249F	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	332					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.T331A(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAGGCACGTTCGACAGCCCGG	0.706000														33			26		0	0	0.008361	0	0
SKAP1	8631	broad.mit.edu	37	17	46259780	46259780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:46259780C>T	uc002ini.1	-	7	719	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SKAP1_uc002inj.1_Missense_Mutation_p.D203N|SKAP1_uc010dbd.1_Missense_Mutation_p.D109N|SKAP1_uc010dbe.1_Missense_Mutation_p.D203N	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	203	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTTATTTGATCCACCCAGTCT	0.333000														114			77		0	0	0.014410	0	0
HCCS	3052	broad.mit.edu	37	X	11139765	11139765	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:11139765C>T	uc004cul.2	+	6	822	c.642C>T	c.(640-642)atC>atT	p.I214I	HCCS_uc004cuk.3_Silent_p.I214I|HCCS_uc004cuj.3_Silent_p.I214I	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	214					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						ACGATTGGATCATAAACCGTT	0.433000														60			19		0	0	0.008871	0	0
EEF1D	1936	broad.mit.edu	37	8	144672139	144672139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144672139G>A	uc003yyq.2	-	0	492	c.263C>T	c.(262-264)tCc>tTc	p.S88F	EEF1D_uc003yyp.2_Missense_Mutation_p.S38F|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Missense_Mutation_p.S38F|EEF1D_uc003yyr.3_Missense_Mutation_p.S38F|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCTGGGCGGAGGCGGCCGC	0.687000														12			11		0	0	0.010729	0	0
ILDR1	286676	broad.mit.edu	37	3	121724190	121724190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121724190C>T	uc003ees.3	-	2	483	c.280G>A	c.(280-282)Gac>Aac	p.D94N	ILDR1_uc003eeq.3_Missense_Mutation_p.D106N|ILDR1_uc003eer.3_Missense_Mutation_p.D94N|ILDR1_uc010hrg.3_Missense_Mutation_p.D94N	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	94	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGCTGGTTGTCGTTGCAGTCA	0.597000														25			20		0	0	0.010504	0	0
SACS	26278	broad.mit.edu	37	13	23914933	23914933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:23914933G>A	uc001uon.2	-	9	3671	c.3082C>T	c.(3082-3084)Cca>Tca	p.P1028S	SACS_uc001uoo.2_Missense_Mutation_p.P881S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1028					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCACATTTGGATTCTCATTT	0.343000														65			60		0	0	0.014410	0	0
BSN	8927	broad.mit.edu	37	3	49699864	49699864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:49699864C>T	uc003cxe.4	+	5	10700	c.10586C>T	c.(10585-10587)cCa>cTa	p.P3529L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GATACCTGCCCACAGTTCTGC	0.657000														48			13		0	0	0.020292	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:43519497G>A	uc002ovm.1	-	3	842	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.F123F|PSG11_uc002ovo.1_Silent_p.F123F	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	245	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACTGAAGGGAAAATTCTGG	0.473000														59			72		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9069185	9069185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9069185C>T	uc002mkp.3	-	2	18465	c.18261G>A	c.(18259-18261)atG>atA	p.M6087I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6089	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTTGAGTTCATCACCAGGG	0.488000														14			10		0	0	0.006214	0	0
SOX6	55553	broad.mit.edu	37	11	16340058	16340058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:16340058G>A	uc001mme.3	-	2	451	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	SOX6_uc001mmd.3_Missense_Mutation_p.L130F|SOX6_uc001mmf.3_Missense_Mutation_p.L127F|SOX6_uc001mmg.3_Missense_Mutation_p.L127F|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Missense_Mutation_p.L127F|SOX6_uc001mmj.3_Missense_Mutation_p.L127F	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	127					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ACATCGGCAAGACTCCCTTTG	0.498000														33			30		0	0	0.010818	0	0
PTPRD	5789	broad.mit.edu	37	9	8518124	8518124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:8518124C>T	uc003zkk.3	-	20	2010	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PTPRD_uc003zkp.3_Missense_Mutation_p.D423N|PTPRD_uc003zkq.3_Missense_Mutation_p.D423N|PTPRD_uc003zkr.3_Missense_Mutation_p.D417N|PTPRD_uc003zks.3_Missense_Mutation_p.D413N|PTPRD_uc022bdj.1_Missense_Mutation_p.D420N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	423	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCTGGACATCCCTCGGGGCA	0.498000										TSP Lung(15;0.13)				5			36		0	0	0.017118	0	0
BRAF	673	broad.mit.edu	37	7	140494206	140494206	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:140494206G>T	uc003vwc.4	-	7	1103	c.1042C>A	c.(1042-1044)Cca>Aca	p.P348T		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	348					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCATCTGCTGGTCGGAAGGGC	0.428000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					70			45		1.81118e-26	2.27009e-26	0.014410	1	0
ANK1	286	broad.mit.edu	37	8	41561628	41561628	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:41561628G>A	uc003xok.3	-	19	2310	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.A50A|ANK1_uc003xoi.3_Silent_p.A742A|ANK1_uc003xoj.3_Silent_p.A742A|ANK1_uc003xol.3_Silent_p.A742A|ANK1_uc003xom.3_Silent_p.A775A	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	742	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCCTGCTGGGCTGCCTGGT	0.532000														65			60		0	0	0.014410	0	0
TET3	200424	broad.mit.edu	37	2	74317124	74317124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:74317124C>T	uc002skb.4	+	4	2584	c.2584C>T	c.(2584-2586)Cgg>Tgg	p.R862W		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	862							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGTATGCTCGGAGCAAGAC	0.607000														54			169		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	40770601	40770601	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:40770601C>T	uc002xkg.3	-	17	2908	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	PTPRT_uc010ggj.3_Silent_p.K927K|PTPRT_uc010ggi.3_Silent_p.K111K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	908	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTCATCCTCCTTGGCTGTGT	0.502000														120			89		0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26707371	26707372	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:26707371_26707372GG>AA	uc002rhk.3	-	11	1302_1303	c.1175_1176CC>TT	c.(1174-1176)gcc>gTT	p.A392V		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	392					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGTCTCATTGGCCTTGTGGGG	0.629000														18			30		0	0	0.004672	0	0
SEC14L1	6397	broad.mit.edu	37	17	75139696	75139696	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:75139696G>A	uc010dhc.3	+	2	338	c.18G>A	c.(16-18)caG>caA	p.Q6Q	SEC14L1_uc021udv.1_Silent_p.Q6Q|SEC14L1_uc021udw.1_Silent_p.Q6Q|SEC14L1_uc021udx.1_Silent_p.Q6Q|SEC14L1_uc002jto.3_Silent_p.Q6Q|SEC14L1_uc010wth.2_Silent_p.Q6Q|SEC14L1_uc002jtm.3_Silent_p.Q6Q	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	6	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGAAATACCAGTCCCCAGTGA	0.353000														18			22		0	0	0.004656	0	0
SFTPA2	729238	broad.mit.edu	37	10	81317056	81317056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:81317056C>T	uc001kal.4	-	5	753	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	SFTPA2_uc001kan.4_Missense_Mutation_p.R219Q	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCTTTTCCCCGACCTGCAGG	0.552000									Pulmonary Fibrosis, Idiopathic					30			108		0	0	0.014410	0	0
OR52A1	23538	broad.mit.edu	37	11	5172665	5172665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5172665G>A	uc010qyy.2	-	0	935	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	312					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGATTTTATGAACAGAACAT	0.348000														53			41		0	0	0.014410	0	0
DCST2	127579	broad.mit.edu	37	1	155003688	155003688	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:155003688G>A	uc001fgm.3	-	4	842	c.762C>T	c.(760-762)atC>atT	p.I254I	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	254						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTACTTAGGGATGACGCAGA	0.622000														35			17		0	0	0.004007	0	0
FAM194A	131831	broad.mit.edu	37	3	150400009	150400009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:150400009C>T	uc003eyg.3	-	6	935	c.878G>A	c.(877-879)gGg>gAg	p.G293E	FAM194A_uc003eyh.3_Missense_Mutation_p.G147E	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	293										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTTACATGCCCTTTTGGTTC	0.368000														16			30		0	0	0.010818	0	0
CCDC62	84660	broad.mit.edu	37	12	123286030	123286030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123286030G>A	uc001udc.3	+	8	1499	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.G207E|CCDC62_uc021rfn.1_Missense_Mutation_p.G261E	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	446						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CAGAACGAAGGAAAACAACCC	0.443000														32			9		0	0	0.006214	0	0
CACNA1S	779	broad.mit.edu	37	1	201013550	201013550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:201013550G>A	uc001gvv.3	-	38	4930	c.4703C>T	c.(4702-4704)cCc>cTc	p.P1568L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1568					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACAGATCTCGGGGGCTGCCTC	0.602000														45			50		0	0	0.014410	0	0
CD300C	10871	broad.mit.edu	37	17	72540764	72540764	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:72540764C>T	uc002jky.1	-	1	745	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	128	Ig-like V-type.|Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.E128V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACACGGACACCTCAACCTCGA	0.577000														25			14		0	0	0.004990	0	0
BSN	8927	broad.mit.edu	37	3	49698258	49698258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:49698258C>T	uc003cxe.4	+	5	9094	c.8980C>T	c.(8980-8982)Cgg>Tgg	p.R2994W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2994					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCAAAGACCGGGGTGGCCG	0.582000														36			21		0	0	0.012319	0	0
LRTM1	57408	broad.mit.edu	37	3	54958890	54958890	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:54958890G>A	uc003dhl.3	-	1	494	c.360C>T	c.(358-360)tcC>tcT	p.S120S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	120						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTGAGGGAGGGAATGGAAAA	0.483000														31			8		0	0	0.003080	0	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:32633201G>A	uc003zrg.1	-	0	2467	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R793R(4)|p.R793W(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000														9			52		0	0	0.014410	0	0
NUMB	8650	broad.mit.edu	37	14	73822358	73822358	+	Silent	SNP	G	A	A	rs116330699	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:73822358G>A	uc001xny.1	-	3	422	c.102C>T	c.(100-102)acC>acT	p.T34T	NUMB_uc010aro.1_Silent_p.T34T|NUMB_uc010arp.1_Silent_p.T34T|NUMB_uc010arq.1_Silent_p.T34T|NUMB_uc010arr.1_Silent_p.T34T|NUMB_uc001xoa.1_Silent_p.T34T|NUMB_uc001xnz.1_Silent_p.T34T|NUMB_uc001xob.1_Silent_p.T34T|NUMB_uc001xod.1_Silent_p.T34T|NUMB_uc001xoc.1_Silent_p.T34T|NUMB_uc010ars.1_Silent_p.T34T|NUMB_uc001xof.1_Silent_p.T34T|NUMB_uc001xog.3_Silent_p.T34T|NUMB_uc001xoh.1_Silent_p.T34T	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	34	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TACATTTTCCGGTGCGAACGC	0.408000														36			39		0	0	0.006999	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238645	179238645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179238645C>T	uc002uly.3	+	15	2043	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	OSBPL6_uc002ulw.3_Missense_Mutation_p.P408L|OSBPL6_uc002ulx.3_Missense_Mutation_p.P475L|OSBPL6_uc010zfe.2_Missense_Mutation_p.P444L|OSBPL6_uc002ulz.3_Missense_Mutation_p.P439L|OSBPL6_uc002uma.3_Missense_Mutation_p.P479L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	475					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCAGTCTCCCCTTATCACAG	0.468000														15			37		0	0	0.019004	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265651	67265651	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:67265651A>G	uc001olx.3	-	9	1816	c.1627T>C	c.(1627-1629)Tac>Cac	p.Y543H	PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Missense_Mutation_p.Y543H|PITPNM1_uc001olz.3_Missense_Mutation_p.Y543H	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	543					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.A542H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AAGGCTGAGTAGGCCTGGTTG	0.657000														17			9		0	0	0.006214	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910617	101910617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:101910617G>A	uc010nod.3	+	2	2418	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M592I|GPRASP1_uc004ejj.4_Missense_Mutation_p.M592I|GPRASP1_uc004eji.4_Missense_Mutation_p.M592I|GPRASP1_uc022cbd.1_Missense_Mutation_p.M592I	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	592	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGACCTATATGGATTGTAGGG	0.507000														117			45		0	0	0.010771	0	0
MUC20	200958	broad.mit.edu	37	3	195453418	195453418	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:195453418G>A	uc010hzo.3	+	2	1557	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	MUC20_uc010hzp.3_Silent_p.T442T|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	648	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTGCCCGGACGAGGCCGACCA	0.607000														57			23		0	0	0.007291	0	0
GDPD2	54857	broad.mit.edu	37	X	69646805	69646805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:69646805G>A	uc011mpk.2	+	7	1007	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GDPD2_uc010nkx.2_Missense_Mutation_p.E216K|GDPD2_uc010nky.2_Missense_Mutation_p.E2K|GDPD2_uc004dyh.3_Missense_Mutation_p.E216K|GDPD2_uc011mpl.2_Missense_Mutation_p.E137K|GDPD2_uc011mpm.2_Missense_Mutation_p.E137K	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	216					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTGCATCATGGAACCCAGAGA	0.582000														22			29		0	0	0.009535	0	0
MCTP1	79772	broad.mit.edu	37	5	94353137	94353137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:94353137G>A	uc003kkx.2	-	1	772	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	MCTP1_uc003kkv.2_Missense_Mutation_p.P37S|MCTP1_uc003kkw.2_Missense_Mutation_p.P37S|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	258	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TACATTCCGGGATCAGCCAAG	0.383000														9			8		0	0	0.003080	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556101	95556102	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:95556101_95556102GG>AA	uc003ygo.2	-	1	203_204	c.132_133CC>TT	c.(130-135)ccccca>ccTTca	p.P45S	KIAA1429_uc003ygp.3_Missense_Mutation_p.P45S	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	45					RNA splicing|mRNA processing	nucleus		p.P45Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTACTCCTGGGGGTATGACTC	0.406000														224			144		0	0	0.004672	0	0
OR52H1	390067	broad.mit.edu	37	11	5566159	5566159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5566159C>T	uc010qzh.2	-	0	595	c.595G>A	c.(595-597)Gat>Aat	p.D199N	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGATATCAGCACAGGCG	0.493000														27			19		0	0	0.010504	0	0
SUN2	25777	broad.mit.edu	37	22	39141792	39141793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:39141792_39141793CC>TT	uc011anz.2	-	8	865_866	c.814_815GG>AA	c.(814-816)ggg>AAg	p.G272K	SUN2_uc011aoa.2_Missense_Mutation_p.G226K|SUN2_uc003awh.2_Missense_Mutation_p.G237K|SUN2_uc010gxq.2_Missense_Mutation_p.G258K|SUN2_uc003awi.2_Missense_Mutation_p.G237K|SUN2_uc010gxr.2_Missense_Mutation_p.G237K	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	237					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTCTGCAGCCCATAGGGGTAG	0.609000														31			21		0	0	0.004672	0	0
RBM6	10180	broad.mit.edu	37	3	50103775	50103776	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:50103775_50103776CC>TT	uc003cyc.3	+	16	3031_3032	c.2783_2784CC>TT	c.(2782-2784)ccc>cTT	p.P928L	RBM6_uc010hlc.2_3'UTR|RBM6_uc003cyd.3_Missense_Mutation_p.P406L|RBM6_uc011bdi.2_Missense_Mutation_p.P270L|RBM6_uc003cye.3_Missense_Mutation_p.P406L|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	928					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCCCCACAGCCCCGCACAGCAC	0.520000														48			16		0	0	0.004672	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871733	65871733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:65871733C>T	uc001dce.1	+	15	2609	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	DNAJC6_uc001dcd.1_Missense_Mutation_p.P746L|DNAJC6_uc010opc.1_Missense_Mutation_p.P733L	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	746					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CACTCCTCTCCCCAGAACCGA	0.592000														28			38		0	0	0.019004	0	0
TOP3A	7156	broad.mit.edu	37	17	18183972	18183973	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:18183972_18183973CC>TT	uc002gsx.1	-	17	2251	c.2022_splice	c.e17-1	p.G674_splice	TOP3A_uc010cpz.1_Splice_Site_p.G126_splice|TOP3A_uc010vxr.1_Splice_Site_p.G204_splice|TOP3A_uc002gsw.1_Splice_Site_p.G126_splice|TOP3A_uc010vxs.1_Splice_Site_p.G572_splice	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	674					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGAGGTAGAACCTGGGGACAAA	0.574000														34			18		0	0	0.004672	0	0
CPT1B	1375	broad.mit.edu	37	22	51008789	51008789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:51008789G>A	uc003bmm.3	-	16	2174	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	CPT1B_uc003bmk.4_Missense_Mutation_p.S692F|CPT1B_uc003bml.3_Missense_Mutation_p.S692F|CPT1B_uc003bmo.3_Missense_Mutation_p.S692F|CPT1B_uc011asa.2_Missense_Mutation_p.S658F|CPT1B_uc003bmn.3_Missense_Mutation_p.S692F|CPT1B_uc011asb.2_Missense_Mutation_p.S611F|CPT1B_uc003bmp.3_Missense_Mutation_p.S487F|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	692					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCGGATCTGGGATTGGGGGAT	0.627000														57			42		0	0	0.014410	0	0
CALB2	794	broad.mit.edu	37	16	71423652	71423652	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71423652G>A	uc002faa.4	+	11	780	c.700_splice	c.e11-1	p.E234_splice	CALB2_uc010vme.2_Splice_Site|CALB2_uc002fac.4_Splice_Site	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	234							calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TATTTCCTAGGAAATGAATAT	0.522000														183			126		0	0	0.014410	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618552	37618552	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:37618552A>C	uc002yvg.3	+	18	4353	c.4274A>C	c.(4273-4275)aAc>aCc	p.N1425T	DOPEY2_uc011aeb.2_Missense_Mutation_p.N1374T|DOPEY2_uc002yvh.3_Missense_Mutation_p.N276T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1425					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane		p.I1424F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTCTCATTAACTTGGGTCAG	0.617000														31			23		0	0	0.016522	0	0
USP26	83844	broad.mit.edu	37	X	132161796	132161796	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:132161796C>T	uc011mvf.2	-	0	505	c.453G>A	c.(451-453)ggG>ggA	p.G151G	USP26_uc010nrm.1_Silent_p.G151G	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	151					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGACACCTGTCCCACTTCCTT	0.383000														13			10		0	0	0.008291	0	0
PRDM9	56979	broad.mit.edu	37	5	23518019	23518019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:23518019G>A	uc003jgo.3	+	4	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	111					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTAAGAGTGGAACAGCGTAA	0.408000										HNSCC(3;0.000094)				97			66		0	0	0.014410	0	0
CAT	847	broad.mit.edu	37	11	34477579	34477579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:34477579C>T	uc001mvm.3	+	6	822	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	245					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CATCAAAAACCTTTCTGTTGA	0.423000														38			25		0	0	0.006320	0	0
OR8D2	283160	broad.mit.edu	37	11	124190007	124190007	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124190007G>A	uc010sah.2	-	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAAGGAACAGGAGGAAGAGTG	0.453000														34			6		0	0	0.003080	0	0
BCAR1	9564	broad.mit.edu	37	16	75263556	75263556	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:75263556G>A	uc002fdv.3	-	6	2612	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L	BCAR1_uc002fdt.3_Silent_p.L275L|BCAR1_uc002fdu.3_Silent_p.L612L|BCAR1_uc010vna.2_Silent_p.L820L|BCAR1_uc010cgu.3_Silent_p.L840L|BCAR1_uc010vnb.2_Silent_p.L868L|BCAR1_uc002fdw.3_Silent_p.L822L|BCAR1_uc010vnc.2_Silent_p.L674L|BCAR1_uc010vnd.2_Silent_p.L840L|BCAR1_uc002fdx.3_Silent_p.L840L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	822					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCCGCGCAGGAGGTCGCACA	0.657000														20			12		0	0	0.016723	0	0
ZIK1	284307	broad.mit.edu	37	19	58102591	58102591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:58102591C>T	uc002qpg.3	+	3	1509	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	ZIK1_uc002qph.3_Missense_Mutation_p.S416F|ZIK1_uc002qpi.3_Missense_Mutation_p.S458F|ZIK1_uc002qpj.3_Missense_Mutation_p.S368F	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAATTCCTTTAGCCAA	0.453000														23			25		0	0	0.005443	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607770	84607770	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:84607770G>A	uc004amn.3	+	3	2432	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	795						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CTTCAGACAAGGATCTGAGGT	0.458000														10			42		0	0	0.011902	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561590	127561590	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:127561590G>A	uc004bov.3	+	3	602	c.489G>A	c.(487-489)gaG>gaA	p.E163E	OLFML2A_uc010mwr.1_Silent_p.E127E|OLFML2A_uc004bow.3_5'Flank	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	163										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGAGCCGGGAGAATGAGGTGG	0.597000														2			33		0	0	0.009718	0	0
KCNH5	27133	broad.mit.edu	37	14	63174914	63174914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:63174914G>A	uc001xfx.3	-	10	2330	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	760					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGTCTGAATGGGAGTAATCTG	0.532000														33			38		0	0	0.021022	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752371	15752371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15752371G>A	uc010xok.2	+	1	196	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	CYP4F3_uc010xol.2_Missense_Mutation_p.R49Q|CYP4F3_uc002nbj.3_Missense_Mutation_p.R49Q|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R49Q	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	49					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.R49W(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCGCCTCCGGTGTTTCCCG	0.637000														24			26		0	0	0.005443	0	0
UPF3B	65109	broad.mit.edu	37	X	118968882	118968882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:118968882C>T	uc004erz.2	-	10	1511	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	UPF3B_uc004esa.2_Missense_Mutation_p.E458K	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	471	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ATACCACTTTCCTGCTTCCTT	0.507000														153			40		0	0	0.008740	0	0
CRYAB	1410	broad.mit.edu	37	11	111782377	111782377	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:111782377A>C	uc001pmf.1	-	0	97	c.72T>G	c.(70-72)ttT>ttG	p.F24L	CRYAB_uc010rwp.1_Missense_Mutation_p.F24L|HSPB2_uc001pmg.2_5'Flank|HSPB2_uc009yyj.2_5'Flank|C11orf52_uc001pmh.3_5'Flank	NM_001885	NP_001876	P02511	CRYAB_HUMAN	Homo sapiens crystallin, alpha B (CRYAB), mRNA.	24					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGAACTGGTCAAAGAGGCGGC	0.602000														7			4		0	0	0.009096	0	0
CLIP4	79745	broad.mit.edu	37	2	29366608	29366608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:29366608C>T	uc002rmv.3	+	6	921	c.682C>T	c.(682-684)Cca>Tca	p.P228S	CLIP4_uc002rmu.3_Missense_Mutation_p.P228S|CLIP4_uc010ezm.1_Missense_Mutation_p.P228S|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.P210S	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	228										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGATGTTGTTCCAGACCCAGT	0.413000														35			55		0	0	0.014410	0	0
BCAT1	586	broad.mit.edu	37	12	24989500	24989500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:24989500C>T	uc001rgd.4	-	7	1375	c.848G>A	c.(847-849)gGc>gAc	p.G283D	BCAT1_uc001rgc.3_Missense_Mutation_p.G282D|BCAT1_uc010six.2_Missense_Mutation_p.G295D|BCAT1_uc010siy.2_Missense_Mutation_p.G246D|BCAT1_uc001rge.4_Missense_Mutation_p.G222D	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	283					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAGAATGATGCCATCTAGTGG	0.423000														19			3		0	0	0.014758	0	0
RTN4	57142	broad.mit.edu	37	2	55277310	55277311	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:55277310_55277311CC>TT	uc002rye.3	-	0	424_425	c.126_127GG>AA	c.(124-129)gaggag>gaAAag	p.E43K	RTN4_uc002ryd.3_5'Flank|RTN4_uc002ryf.3_Missense_Mutation_p.E43K|RTN4_uc002ryg.3_Missense_Mutation_p.E43K|RTN4_uc010yov.1_Missense_Mutation_p.P79F	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	43	Poly-Glu.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						tcctcgtcctcctcttcctcct	0.708000														26			4		0	0	0.004672	0	0
SCRN3	79634	broad.mit.edu	37	2	175263133	175263133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:175263133C>T	uc002uiq.3	+	1	220	c.122C>T	c.(121-123)cCt>cTt	p.P41L	CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Missense_Mutation_p.P34L|SCRN3_uc010zeo.2_5'UTR|SCRN3_uc002uir.1_Non-coding_Transcript	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	41					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GTTTATTTTCCTGCTGTAGTT	0.333000														42			89		0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153190623	153190623	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:153190623C>T	uc011dcy.2	+	15	2616	c.2589C>T	c.(2587-2589)gcC>gcT	p.A863A	GRIA1_uc003lva.4_Silent_p.A853A|GRIA1_uc003luy.4_Silent_p.A853A|GRIA1_uc003luz.4_Silent_p.A758A|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.A773A|GRIA1_uc011dcx.2_Silent_p.A784A|GRIA1_uc011dcz.2_Silent_p.A863A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	853				S -> SA (in Ref. 1; AAA58613).	synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACGAAGCCATACGGACAT	0.592000														27			16		0	0	0.008871	0	0
ZNF296	162979	broad.mit.edu	37	19	45575443	45575443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:45575443G>A	uc002pao.3	-	2	901	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	282					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCACCTGCCGGTGGGTCTTC	0.692000														103			169		0	0	0.014410	0	0
INSL3	3640	broad.mit.edu	37	19	17927816	17927817	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:17927816_17927817GG>AA	uc002nhm.1	-	1	247_248	c.242_243CC>TT	c.(241-243)gcc>gTT	p.A81V	INSL3_uc010ebf.1_Missense_Mutation_p.P113L	NM_005543	NP_005534	P51460	INSL3_HUMAN	Homo sapiens insulin-like 3 (Leydig cell) (INSL3), mRNA.	81					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						GATTACTGTCGGCCACCAGCCC	0.614000														14			23		0	0	0.004672	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														39			6		0	0	0.001168	0	0
PBRM1	55193	broad.mit.edu	37	3	52597488	52597488	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52597488C>T	uc003des.2	-	23	3909	c.3897G>A	c.(3895-3897)aaG>aaA	p.K1299K	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.K1299K|PBRM1_uc003der.2_Silent_p.K1267K|PBRM1_uc003det.2_Silent_p.K1314K|PBRM1_uc003deu.2_Silent_p.K1314K|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.K1299K|PBRM1_uc010hmk.1_Silent_p.K1274K|PBRM1_uc003dey.2_Silent_p.K1274K|PBRM1_uc003dez.1_Silent_p.K1298K	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1299					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.Q1298*(4)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGATGGCTCCTTCTGAGGAA	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									39			32		0	0	0.012213	0	0
C8orf22	492307	broad.mit.edu	37	8	49985420	49985420	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:49985420C>T	uc003xqq.4	+	1	214	c.31C>T	c.(31-33)Cta>Tta	p.L11L		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	Homo sapiens chromosome 8 open reading frame 22 (C8orf22), mRNA.	11										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGGTTGCCTTCTAGCCAGAAA	0.428000														78			67		0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10436681	10436682	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10436681_10436682CC>TT	uc010coi.3	-	20	2489_2490	c.2361_2362GG>AA	c.(2359-2364)ctggcc>ctAAcc	p.A788T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A788T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	788	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCAGCTGGGCCAGCTTGTCAT	0.465000														54			43		0	0	0.004672	0	0
FRY	10129	broad.mit.edu	37	13	32729724	32729724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:32729724C>T	uc001utx.3	+	14	2072	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCGTTCTTCCTTCAGGAAA	0.423000														23			24		0	0	0.018920	0	0
CHD5	26038	broad.mit.edu	37	1	6188564	6188565	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:6188564_6188565GG>AA	uc001amb.2	-	23	3835_3836	c.3724_3725CC>TT	c.(3724-3726)ccg>TTg	p.P1242L	CHD5_uc001alz.2_Missense_Mutation_p.P99L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTACCTGGCGGGGTGCTACCG	0.653000														8			18		0	0	0.004672	0	0
ZNF454	285676	broad.mit.edu	37	5	178392084	178392084	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:178392084C>T	uc003mjo.2	+	4	980	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	ZNF454_uc010jkz.2_Nonsense_Mutation_p.Q227*|ZNF454_uc021yjc.1_Nonsense_Mutation_p.Q227*	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGCCTTTCACCAGAGTACGCA	0.373000														35			27		0	0	0.005443	0	0
EPPK1	83481	broad.mit.edu	37	8	144940512	144940512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144940512C>T	uc003zaa.1	-	0	6923	c.6910G>A	c.(6910-6912)Gag>Aag	p.E2304K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2304						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.A2303A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGCGCGCTCGGCCGACAGC	0.692000														186			16		0	0	0.004007	0	0
NANOS3	342977	broad.mit.edu	37	19	13988320	13988320	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:13988320C>T	uc002mxj.4	+	0	258	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	67					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGGCGAGTCCCGGGCCATCT	0.652000														16			11		0	0	0.008291	0	0
THSD7A	221981	broad.mit.edu	37	7	11676277	11676277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:11676277G>A	uc021zzo.1	-	1	754	c.502C>T	c.(502-504)Cct>Tct	p.P168S	THSD7A_uc021zzn.1_Missense_Mutation_p.P168S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	168						integral to membrane		p.P168P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTCCGCAGGAATGTCTTTG	0.478000										HNSCC(18;0.044)				39			35		0	0	0.005524	0	0
FBXW8	26259	broad.mit.edu	37	12	117465253	117465253	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:117465253G>A	uc001twg.1	+	9	1678	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	FBXW8_uc001twf.1_Silent_p.V466V|FBXW8_uc021rel.1_5'Flank	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	532							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGGCCAACGTGCCTTACCAGA	0.597000														26			35		0	0	0.008740	0	0
AGTR2	186	broad.mit.edu	37	X	115304404	115304404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:115304404G>A	uc022cdd.1	+	0	871	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	AGTR2_uc004eqh.4_Missense_Mutation_p.E291K	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	291					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.C290C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAATAGCTGCGAAGTTATAGC	0.488000														31			43		0	0	0.009718	0	0
INHBE	83729	broad.mit.edu	37	12	57850359	57850359	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:57850359T>A	uc001snw.3	+	1	1005	c.781T>A	c.(781-783)Tgg>Agg	p.W261R		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	261					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGAACTGGGATGGCGGGACTG	0.637000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			20		0	0	0.012319	0	0
ZNF816	125893	broad.mit.edu	37	19	53453605	53453605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:53453605G>A	uc002qal.2	-	4	1774	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.H475Y|ZNF816_uc002qam.2_Missense_Mutation_p.H475Y	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTGTGAAGTGTATGA	0.413000														46			16		0	0	0.003163	0	0
LOC440700	440700	broad.mit.edu	37	1	165678643	165678643	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:165678643C>T	uc001gdi.3	+	3		c.654C>T								Homo sapiens carbonic anhydrase XIV (CA14) pseudogene (LOC440700), non-coding RNA.																		GGTTGGCTCTCTCTGACTTCT	0.483000														48			14		0	0	0.004007	0	0
PKHD1	5314	broad.mit.edu	37	6	51923258	51923258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:51923258G>A	uc003pah.1	-	15	1651	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	PKHD1_uc003pai.3_Missense_Mutation_p.H459Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	459					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTATCCCATGATGCTCTGCT	0.547000														48			49		0	0	0.014410	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:70079874G>A	uc003heh.3	-	0	576	c.567C>T	c.(565-567)ttC>ttT	p.F189F	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000														2			10		0	0	0.008291	0	0
MRPL9	65005	broad.mit.edu	37	1	151734008	151734008	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:151734008G>A	uc001eyv.3	-	4	592	c.507C>T	c.(505-507)agC>agT	p.S169S	MRPL9_uc009wmz.3_Non-coding_Transcript|OAZ3_uc010pdl.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	169					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCGACAGCTTTTTAGAA	0.448000														57			41		0	0	0.007835	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222446	142222447	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:142222446_142222447GG>AA	uc003ywd.1	-	6	2305_2306	c.1997_1998CC>TT	c.(1996-1998)ccc>cTT	p.P666L	SLC45A4_uc003ywc.1_Missense_Mutation_p.P666L|SLC45A4_uc010meq.1_Missense_Mutation_p.P664L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	717					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGACACGTTGGGATAGATCAC	0.644000														33			30		0	0	0.004672	0	0
NCR1	9437	broad.mit.edu	37	19	55418119	55418119	+	Silent	SNP	G	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55418119G>C	uc002qib.2	+	2	347	c.309G>C	c.(307-309)ggG>ggC	p.G103G	NCR1_uc002qic.2_Silent_p.G103G|NCR1_uc002qie.2_Silent_p.G103G|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	103	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ATCGGGTTGGGGAGCTCTGGT	0.527000														36			51		0	0	0.014410	0	0
KIAA1109	84162	broad.mit.edu	37	4	123167914	123167914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:123167914C>T	uc003ieh.3	+	31	5306	c.5261C>T	c.(5260-5262)tCc>tTc	p.S1754F	KIAA1109_uc003iek.2_Missense_Mutation_p.S373F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1754					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTCATGTTTCCCTAGTGGCA	0.393000														5			20		0	0	0.014323	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931073	157931073	+	Nonsense_Mutation	SNP	G	A	A	rs142009346	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:157931073G>A	uc003wno.3	-	6	1166	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	PTPRN2_uc003wnp.3_Nonsense_Mutation_p.R332*|PTPRN2_uc003wnq.3_Nonsense_Mutation_p.R349*|PTPRN2_uc003wnr.3_Nonsense_Mutation_p.R311*|PTPRN2_uc011kwa.2_Nonsense_Mutation_p.R372*	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCTGCCTCGAGCTACTCCA	0.672000														40			48		0	0	0.014410	0	0
MATN2	4147	broad.mit.edu	37	8	98943539	98943539	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:98943539C>T	uc003yic.3	+	2	732	c.501C>T	c.(499-501)atC>atT	p.I167I	MATN2_uc003yib.1_Silent_p.I167I|MATN2_uc010mbh.1_Silent_p.I167I|MATN2_uc003yid.3_Silent_p.I167I|MATN2_uc003yie.1_Silent_p.I167I|MATN2_uc010mbi.1_Silent_p.I41I	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	167	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding	p.I167I(3)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCATAATGATCGTGACAGATG	0.597000														29			22		0	0	0.004656	0	0
OR11H4	390442	broad.mit.edu	37	14	20711780	20711780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:20711780C>T	uc010tld.2	+	0	830	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TATGGGATCCCAACTTTATTG	0.403000														106			73		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103243900	103243900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:103243900C>T	uc022ajr.1	-	23	3344	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	RELN_uc022ajq.1_Missense_Mutation_p.E1062K|RELN_uc010liz.3_Missense_Mutation_p.E1062K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1062					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGCAGCTTCTGGGTGGCAT	0.522000														38			34		0	0	0.005524	0	0
NT5E	4907	broad.mit.edu	37	6	86197123	86197123	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:86197123G>A	uc003pko.4	+	4	1576	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	NT5E_uc010kbr.3_Silent_p.G340G	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	340					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGGAATTAGGGAAAACAATTG	0.393000														40			57		0	0	0.014410	0	0
CDKL5	6792	broad.mit.edu	37	X	18613499	18613499	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:18613499A>C	uc004cym.3	+	9	1029	c.776A>C	c.(775-777)gAa>gCa	p.E259A	CDKL5_uc004cyn.3_Missense_Mutation_p.E259A|CDKL5_uc022btn.1_Missense_Mutation_p.E250A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	259	Protein kinase.				neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAGTCCTTGGAAAGAAGATAC	0.393000														57			22		0	0	0.005443	0	0
KCNB2	9312	broad.mit.edu	37	8	73850273	73850273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:73850273C>T	uc003xzb.3	+	2	3271	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	895					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCAGAAATTCATTCCAACCC	0.398000														40			44		0	0	0.014410	0	0
ACSL6	23305	broad.mit.edu	37	5	131323771	131323771	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:131323771C>T	uc003kvx.2	-	6	910	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.G232G|ACSL6_uc003kvy.2_Silent_p.G267G|ACSL6_uc003kvz.2_Silent_p.G207G|ACSL6_uc021ydh.1_Silent_p.G207G|ACSL6_uc010jdo.2_Silent_p.G242G|ACSL6_uc003kwa.2_Silent_p.G253G|ACSL6_uc010jdn.2_Silent_p.G257G|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	242					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G267W(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATGACCACCCCGCACTTCT	0.557000														68			44		0	0	0.009718	0	0
TRPV6	55503	broad.mit.edu	37	7	142573418	142573418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142573418C>T	uc003wbx.2	-	7	1154	c.925G>A	c.(925-927)Gac>Aac	p.D309N	TRPV6_uc003wbw.1_Missense_Mutation_p.D95N|TRPV6_uc010lou.1_Missense_Mutation_p.D180N	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	309					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCGTCTGGTCCAGGATCTGG	0.597000														74			45		0	0	0.011902	0	0
MYO1A	4640	broad.mit.edu	37	12	57430741	57430741	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:57430741C>T	uc001smw.4	-	19	2430	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*	MYO1A_uc010sqz.2_Nonsense_Mutation_p.W568*|MYO1A_uc009zpd.3_Nonsense_Mutation_p.W730*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	730	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTCCCCGAAACCAAGAGGAGA	0.517000														69			32		0	0	0.015359	0	0
HMCN1	83872	broad.mit.edu	37	1	185956651	185956651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:185956651C>T	uc001grq.1	+	19	3252	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	HMCN1_uc001grr.1_Missense_Mutation_p.P349L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1008	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGGAAATCCCAAACCGTCT	0.428000														166			64		0	0	0.014410	0	0
MEGF8	1954	broad.mit.edu	37	19	42854467	42854467	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42854467C>T	uc002otl.4	+	13	3101	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	MEGF8_uc002otm.4_Silent_p.S430S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	889						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)				CTGGTGGGTCCCTGCTGGTGC	0.697000														17			18		0	0	0.004990	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941640	6941640	+	Silent	SNP	C	T	T	rs145936915		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:6941640C>T	uc002geh.3	+	2	821	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	171						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGAGGGGGTCCCTGCTGCTGG	0.677000														25			45		0	0	0.010771	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540187	169540187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169540187G>A	uc003fgb.3	+	0	478	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	160										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGCCCAAGGAAATAGTGAA	0.502000														30			38		0	0	0.006230	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351437	60351437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:60351437C>T	uc002izq.2	-	1	152	c.40G>A	c.(40-42)Gag>Aag	p.E14K	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TCCTCTCGCTCTTGTGCCCAC	0.522000														279			218		0	0	0.014410	0	0
PLCG2	5336	broad.mit.edu	37	16	81942191	81942191	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:81942191C>T	uc002fgt.3	+	16	1906	c.1728C>T	c.(1726-1728)tcC>tcT	p.S576S	PLCG2_uc010chg.1_Silent_p.S576S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	576	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACACCCTGTCCTTCTGGTAAT	0.592000														14			11		0	0	0.008291	0	0
CYB5D2	124936	broad.mit.edu	37	17	4060188	4060188	+	Missense_Mutation	SNP	G	A	A	rs150294786		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:4060188G>A	uc002fxm.4	+	3	1195	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	CYB5D2_uc002fxl.4_Missense_Mutation_p.V91I|CYB5D2_uc010cko.3_Missense_Mutation_p.V91I	NM_144611	NP_001241685	Q8WUJ1	NEUFC_HUMAN	Homo sapiens cytochrome b5 domain containing 2 (CYB5D2), transcript variant 1, mRNA.	203					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CTGGATTGGCGTCCCCAGGAA	0.567000											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			6		0	0	0.001168	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395598	131395598	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:131395598G>A	uc004bvl.4	+	55	7546	c.7404G>A	c.(7402-7404)tcG>tcA	p.S2468S	SPTAN1_uc004bvm.4_Silent_p.S2473S|SPTAN1_uc004bvn.4_Silent_p.S2448S|SPTAN1_uc004bvo.4_Silent_p.S235S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2468					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.R2467fs*5(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCACCCGCTCGCTTTTCGTGA	0.632000														27			14		0	0	0.004990	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880344	209880344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:209880344C>T	uc001hhj.3	+	4	520	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	HSD11B1_uc021pin.1_Missense_Mutation_p.H130Y|HSD11B1_uc001hhk.3_Missense_Mutation_p.H130Y	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	130					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAATCTTTTTCATGATGATAT	0.448000														58			62		0	0	0.014410	0	0
SV2B	9899	broad.mit.edu	37	15	91809904	91809904	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:91809904C>A	uc002bqv.3	+	7	1992	c.1101C>A	c.(1099-1101)ttC>ttA	p.F367L	SV2B_uc002bqt.3_Missense_Mutation_p.F367L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.F216L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	367					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGTCAGATTCAAGACCATTT	0.438000														234			173		1.17314e-93	1.47651e-93	0.014410	1	0
IGFL1	374918	broad.mit.edu	37	19	46733392	46733392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46733392G>A	uc002pee.3	+	1	76	c.53G>A	c.(52-54)aGg>aAg	p.R18K		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	18						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TGCATCTCCAGGCTCCTCTGC	0.577000														52			20		0	0	0.014323	0	0
LPHN3	23284	broad.mit.edu	37	4	62599214	62599214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:62599214G>A	uc010ihh.3	+	4	1310	c.1137G>A	c.(1135-1137)tgG>tgA	p.W379*	LPHN3_uc003hcq.4_Nonsense_Mutation_p.W379*|LPHN3_uc010ihg.1_Nonsense_Mutation_p.W447*|LPHN3_uc003hcs.1_Nonsense_Mutation_p.W208*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	379	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTATGTATGGAATAACTATC	0.398000														3			15		0	0	0.004007	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097564	30097564	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:30097564G>C	uc001uso.3	-	6	1275	c.888C>G	c.(886-888)atC>atG	p.I296M		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	296					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGATGAAGCAGATCAAGAGGG	0.597000														30			33		0	0	0.015359	0	0
TMC8	147138	broad.mit.edu	37	17	76133842	76133842	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:76133842C>T	uc002jup.2	+	10	1678	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	TMC8_uc002juq.2_Silent_p.I209I|TMC8_uc010wtr.1_Missense_Mutation_p.L138F|TMC8_uc002jur.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	432						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			AGCTGAGTATCTTCAACTTCC	0.667000														62			36		0	0	0.006230	0	0
JAM2	58494	broad.mit.edu	37	21	27078381	27078381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:27078381G>A	uc002ylp.1	+	6	1333	c.788G>A	c.(787-789)aGg>aAg	p.R263K	JAM2_uc011ace.1_Missense_Mutation_p.R263K|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R227K	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	263					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.Q262K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TATGCTCAGAGGAAAGGCTAC	0.408000														55			36		0	0	0.010771	0	0
NCAN	1463	broad.mit.edu	37	19	19339214	19339214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:19339214C>T	uc002nlz.3	+	7	2884	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	NCAN_uc010ecc.1_Missense_Mutation_p.P493S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	929					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACCGGCTGTTCCTCCTGGGAC	0.637000														51			36		0	0	0.015359	0	0
OR3A1	4994	broad.mit.edu	37	17	3195661	3195661	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:3195661C>T	uc002fvh.1	-	0	216	c.216G>A	c.(214-216)ctG>ctA	p.L72L		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACCCAACATCCAGCACTGATA	0.577000														38			23		0	0	0.012319	0	0
DNAH7	56171	broad.mit.edu	37	2	196753010	196753010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:196753010G>A	uc002utj.4	-	32	5479	c.5378C>T	c.(5377-5379)tCg>tTg	p.S1793L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1793	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATTCAACCGAAACAGGGAC	0.328000														26			15		0	0	0.004990	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:128624166G>A	uc011muk.1	-	14	1932	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.R607*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.R595*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R595*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	607	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328000														41			10		0	0	0.020292	0	0
CAD	790	broad.mit.edu	37	2	27444202	27444202	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:27444202C>T	uc002rji.3	+	2	501	c.339C>T	c.(337-339)atC>atT	p.I113I	CAD_uc010eyw.3_Silent_p.I113I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	113	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCATGGCATCCCTGGCTTGC	0.577000														17			29		0	0	0.010818	0	0
INTS6	26512	broad.mit.edu	37	13	51948811	51948811	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:51948811G>A	uc001vfk.3	-	13	2465	c.1851C>T	c.(1849-1851)aaC>aaT	p.N617N	INTS6_uc001vfi.3_Silent_p.N301N|INTS6_uc001vfj.3_Silent_p.N604N|INTS6_uc001vfl.3_Silent_p.N439N	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	617					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GCTTAAAGGGGTTGCCAAATG	0.373000														22			18		0	0	0.008871	0	0
VPS8	23355	broad.mit.edu	37	3	184648292	184648292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:184648292C>T	uc021xik.1	+	32	2922	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	VPS8_uc003fpb.1_Missense_Mutation_p.S943F|VPS8_uc010hyd.1_Missense_Mutation_p.S853F|VPS8_uc010hye.1_Missense_Mutation_p.S372F	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	945							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATATCTTATCCATTCCCGGA	0.393000														39			41		0	0	0.009718	0	0
IGSF1	3547	broad.mit.edu	37	X	130419291	130419291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:130419291G>A	uc004ewe.4	-	4	812	c.529C>T	c.(529-531)Cca>Tca	p.P177S	IGSF1_uc004ewd.3_Missense_Mutation_p.P177S|IGSF1_uc022cdv.1_Missense_Mutation_p.P168S|IGSF1_uc004ewf.2_Missense_Mutation_p.P157S|IGSF1_uc022cdw.1_Missense_Mutation_p.P177S|IGSF1_uc004ewg.3_Missense_Mutation_p.P177S	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	177	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCCCAGTTGGGACTTGGTAA	0.498000														113			41		0	0	0.013114	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156812213G>A	uc010pht.2	-	17	3513	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000														123			43		0	0	0.014410	0	0
CNTROB	116840	broad.mit.edu	37	17	7849121	7849121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:7849121C>T	uc002gjp.3	+	13	2760	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	CNTROB_uc002gjq.3_Missense_Mutation_p.P604S|CNTROB_uc002gjr.3_Missense_Mutation_p.P506S	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	604	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GACTATGCCTCCCATGGCCGT	0.622000														84			57		0	0	0.014410	0	0
ZFP37	7539	broad.mit.edu	37	9	115805518	115805518	+	Silent	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:115805518G>T	uc011lwz.1	-	3	1453	c.1425C>A	c.(1423-1425)ccC>ccA	p.P475P	ZFP37_uc004bgm.1_Silent_p.P460P|ZFP37_uc011lxa.1_Silent_p.P461P	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACATTCAAAGGGTTTCTCAC	0.348000														9			6		5.9392e-07	7.32987e-07	0.001168	1	0
FAM46C	54855	broad.mit.edu	37	1	118166492	118166492	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:118166492C>T	uc021osq.1	+	0	1002	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	FAM46C_uc001ehe.3_Silent_p.S334S	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	334										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ACCTCATCTCCCTCCTGGCCT	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				31			12		0	0	0.016723	0	0
NSUN4	387338	broad.mit.edu	37	1	46810471	46810471	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:46810471A>T	uc001cpr.1	+	2	203	c.94_splice	c.e2-2	p.A32_splice	NSUN4_uc010omc.1_Splice_Site|NSUN4_uc009vyf.1_Splice_Site|NSUN4_uc009vyg.1_Splice_Site|NSUN4_uc001cpt.1_Splice_Site|NSUN4_uc001cps.1_Splice_Site	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	32							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCTCTCTTTTAGGCTGCCACA	0.502000														43			55		0	0	0.014410	0	0
FANCC	2176	broad.mit.edu	37	9	98011571	98011571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:98011571C>T	uc022bkl.1	-	1	207	c.3G>A	c.(1-3)atG>atA	p.M1I	FANCC_uc004avh.3_Missense_Mutation_p.M1I|FANCC_uc004avi.4_Missense_Mutation_p.M1I|FANCC_uc010mrm.1_Non-coding_Transcript|FANCC_uc011lul.1_Non-coding_Transcript	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	1					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AATCTTGAGCCATCTTGGAAA	0.438000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					1			13		0	0	0.013537	0	0
FAM47A	158724	broad.mit.edu	37	X	34150271	34150271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:34150271G>A	uc004ddg.3	-	0	177	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	42										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTGTCCATGGGTGGGAACCT	0.592000														46			51		0	0	0.014410	0	0
FAM71B	153745	broad.mit.edu	37	5	156589773	156589773	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:156589773G>A	uc003lwn.3	-	1	1603	c.1503C>T	c.(1501-1503)acC>acT	p.T501T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	501						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGCTGTGGGTGGAGCTCT	0.488000														302			190		0	0	0.014410	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68214699	68214699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:68214699C>T	uc003xxo.2	-	1	517	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	43					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTTTATTTCCTCTGAGGGG	0.308000														21			23		0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158637652	158637652	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158637652C>T	uc001fst.1	-	14	2233	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	678					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			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)					TTTTACCTTTCTGTTTTGTAG	0.428000														29			12		0	0	0.010729	0	0
OR10G8	219869	broad.mit.edu	37	11	123900987	123900987	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123900987A>G	uc001pzp.1	+	0	658	c.658A>G	c.(658-660)Atc>Gtc	p.I220V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I220M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATGTGTCCATCGTCTGTTC	0.547000														50			18		0	0	0.008871	0	0
LRP10	26020	broad.mit.edu	37	14	23346690	23346690	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:23346690C>G	uc001whd.3	+	6	2649	c.2096C>G	c.(2095-2097)cCg>cGg	p.P699R	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	699					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCTGAGCCGGGGGTGTGG	0.662000														29			8		0	0	0.003080	0	0
HTR1D	3352	broad.mit.edu	37	1	23519780	23519780	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:23519780G>A	uc001bgn.3	-	0	1443	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGCAGATGATAAAGGCCC	0.552000														33			46		0	0	0.011902	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145089	56145089	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:56145089C>T	uc002rzi.3	-	4	729	c.228G>A	c.(226-228)caG>caA	p.Q76Q	EFEMP1_uc002rzj.3_Silent_p.Q76Q|EFEMP1_uc010ypc.2_Silent_p.Q18Q	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	76					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGACAATAATCTGGGCTGTTT	0.493000														104			25		0	0	0.021523	0	0
F2RL1	2150	broad.mit.edu	37	5	76128776	76128776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:76128776C>T	uc003keo.3	+	1	519	c.344C>T	c.(343-345)gCc>gTc	p.A115V		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	115					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATTTACATGGCCAATCTGGCC	0.478000														285			222		0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58154278	58154278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:58154278G>A	uc003djj.2	+	43	7475	c.7310G>A	c.(7309-7311)gGg>gAg	p.G2437E	FLNB_uc010hne.2_Missense_Mutation_p.G2468E|FLNB_uc003djk.2_Missense_Mutation_p.G2426E|FLNB_uc010hnf.2_Missense_Mutation_p.G2413E|FLNB_uc003djl.2_Missense_Mutation_p.G2257E|FLNB_uc003djm.2_Missense_Mutation_p.G2244E|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2437	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCTGAAGGGTACAAAGTC	0.517000														44			10		0	0	0.006214	0	0
PTPRB	5787	broad.mit.edu	37	12	71029639	71029639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:71029639G>A	uc001swc.4	-	1	308	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PTPRB_uc001swa.4_Missense_Mutation_p.S88F|PTPRB_uc001swd.4_Missense_Mutation_p.S87F|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.S88F	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGCCTGGGAACAGCGGTC	0.542000														5			10		0	0	0.006214	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032418	142032418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142032418C>T	uc011krs.1	+	1	271	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		ATCGGGGCTTCCCCGTGATCG	0.552000														10			14		0	0	0.020292	0	0
SGK2	10110	broad.mit.edu	37	20	42213656	42213656	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:42213656G>A	uc002xkv.3	+	11	1503	c.1284G>A	c.(1282-1284)taG>taA	p.*428*	SGK2_uc002xkr.3_Silent_p.*368*|SGK2_uc010ggm.3_3'UTR|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.*368*	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	0					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGATTGCTAGAAGAGAAGGA	0.493000														68			34		0	0	0.021022	0	0
PLCG2	5336	broad.mit.edu	37	16	81891956	81891956	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:81891956C>T	uc002fgt.3	+	3	604	c.426C>T	c.(424-426)atC>atT	p.I142I	PLCG2_uc010chg.1_Silent_p.I142I	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	142					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCACCATTATCGAGAGGTAGT	0.463000														82			48		0	0	0.014410	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394502	3394502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:3394502G>A	uc001akg.4	+	10	1785	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ARHGEF16_uc001aki.3_Missense_Mutation_p.E225K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E225K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E217K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	513	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTTAGTGGAAGAAACCGGACT	0.572000														37			53		0	0	0.014410	0	0
ABCB9	23457	broad.mit.edu	37	12	123425473	123425473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123425473C>T	uc001udm.4	-	7	1760	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	ABCB9_uc021rfo.1_Missense_Mutation_p.D484N|ABCB9_uc021rfp.1_Missense_Mutation_p.D484N|ABCB9_uc010tai.2_Missense_Mutation_p.D91N|ABCB9_uc001udo.4_Missense_Mutation_p.D441N|ABCB9_uc010taj.2_Intron|ABCB9_uc001udq.3_Intron|ABCB9_uc021rfq.1_Missense_Mutation_p.D484N|ABCB9_uc001udr.3_Missense_Mutation_p.D484N	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	484					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGCTGCCGGTCGATGAACTCG	0.642000														13			5		0	0	0.014758	0	0
KCNK13	56659	broad.mit.edu	37	14	90650484	90650485	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:90650484_90650485GG>AA	uc001xye.1	+	1	806_807	c.364_365GG>AA	c.(364-366)gga>AAa	p.G122K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	122						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V121I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCGACAGTAGGAGGAAAAATC	0.480000														57			52		0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152464812	152464812	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152464812G>A	uc021zhb.1	-	135	25288	c.25065C>T	c.(25063-25065)atC>atT	p.I8355I	SYNE1_uc003qos.4_Silent_p.I2879I|SYNE1_uc003qot.4_Silent_p.I8307I|SYNE1_uc003qou.4_Silent_p.I8355I|SYNE1_uc011eez.2_Silent_p.I557I|SYNE1_uc003qoq.4_Silent_p.I557I|SYNE1_uc003qor.4_Silent_p.I1278I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8355					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCGAATGATATTTTCGG	0.537000										HNSCC(10;0.0054)				86			29		0	0	0.009535	0	0
RC3H1	149041	broad.mit.edu	37	1	173953695	173953695	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:173953695T>G	uc010pmt.2	-	1	381	c.294A>C	c.(292-294)gaA>gaC	p.E98D	RC3H1_uc001gju.4_Missense_Mutation_p.E98D|RC3H1_uc010pms.2_Missense_Mutation_p.E98D|RC3H1_uc001gjv.3_Missense_Mutation_p.E98D	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	98					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTTCTTGGCTTCCTCATAAT	0.393000														31			19		0	0	0.007413	0	0
CLDN4	1364	broad.mit.edu	37	7	73245767	73245767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:73245767C>T	uc003tzi.4	+	0	575	c.236C>T	c.(235-237)gCg>gTg	p.A79V	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	79					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GACCTGCAGGCGGCCCGCGCC	0.637000														45			41		0	0	0.010771	0	0
MYOCD	93649	broad.mit.edu	37	17	12656041	12656041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:12656041C>T	uc002gno.2	+	9	1735	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	MYOCD_uc002gnn.2_Missense_Mutation_p.S479F|MYOCD_uc002gnp.1_Missense_Mutation_p.S383F|MYOCD_uc002gnq.2_Missense_Mutation_p.S198F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	479	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATGATGCCTCCCCCTCCTTC	0.627000														37			30		0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82583281	82583281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82583281G>A	uc003uhx.2	-	4	7277	c.6988C>T	c.(6988-6990)Cga>Tga	p.R2330*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R2330*|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2261	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTTTGTTCGTTCGGCCTCC	0.418000														118			76		0	0	0.014410	0	0
KCNMA1	3778	broad.mit.edu	37	10	78869955	78869955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:78869955C>T	uc001jxn.3	-	7	1284	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	KCNMA1_uc021ptu.1_Missense_Mutation_p.M315I|KCNMA1_uc001jxj.2_Missense_Mutation_p.M369I|KCNMA1_uc001jxk.1_Nonsense_Mutation_p.W15*|KCNMA1_uc009xrt.1_Missense_Mutation_p.M189I|KCNMA1_uc001jxl.1_Missense_Mutation_p.M23I|KCNMA1_uc001jxo.3_Missense_Mutation_p.M369I|KCNMA1_uc001jxm.3_Missense_Mutation_p.M369I|KCNMA1_uc001jxq.3_Missense_Mutation_p.M369I	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	369					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGAAGAAGACCATGAAGAGGC	0.393000														21			78		0	0	0.014410	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603668	28603668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:28603668C>T	uc002dqg.2	-	6	1042	c.691G>A	c.(691-693)Gag>Aag	p.E231K	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Missense_Mutation_p.E231K	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	231					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCTTCATCTCCTTGAACGAC	0.557000														134			93		0	0	0.014410	0	0
NLRP1	22861	broad.mit.edu	37	17	5424849	5424849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:5424849G>A	uc002gci.3	-	12	4333	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	NLRP1_uc002gcg.1_Missense_Mutation_p.R1264W|NLRP1_uc002gch.4_Missense_Mutation_p.R1260W|NLRP1_uc002gck.3_Missense_Mutation_p.R1260W|NLRP1_uc002gcj.3_Missense_Mutation_p.R1230W|NLRP1_uc002gcl.3_Missense_Mutation_p.R1230W	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1260					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.R1260W(3)|p.R1264W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCACCTTCCGAATGGAGCAG	0.562000														38			36		0	0	0.017118	0	0
DST	667	broad.mit.edu	37	6	56499036	56499036	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:56499036T>C	uc003pcy.4	-	12	2012	c.1904A>G	c.(1903-1905)aAt>aGt	p.N635S	DST_uc021zay.1_Missense_Mutation_p.N1001S|DST_uc021zax.1_Missense_Mutation_p.N635S|DST_uc003pdc.4_Missense_Mutation_p.N635S|DST_uc003pdd.4_Missense_Mutation_p.N635S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	961					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTCAGGACATTCTGATACTG	0.353000														24			37		0	0	0.006999	0	0
C12orf51	283450	broad.mit.edu	37	12	112645751	112645751	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:112645751G>A	uc021reb.1	-	51	8052	c.7656C>T	c.(7654-7656)acC>acT	p.T2552T	C12orf51_uc001ttr.1_Silent_p.T439T	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTCTTCGGATGGTAGGAAAAA	0.512000														11			18		0	0	0.006122	0	0
SEPP1	6414	broad.mit.edu	37	5	42807012	42807012	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:42807012G>A	uc011cps.2	-	3	590	c.492C>T	c.(490-492)ttC>ttT	p.F164F	SEPP1_uc011cpt.2_Silent_p.F134F|SEPP1_uc011cpu.2_Silent_p.F134F|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	134					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CATATATGAGGAAGTCATCTT	0.318000														43			29		0	0	0.012213	0	0
COL15A1	1306	broad.mit.edu	37	9	101787266	101787266	+	Silent	SNP	T	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:101787266T>G	uc004azb.1	+	14	2171	c.1965T>G	c.(1963-1965)ggT>ggG	p.G655G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	655	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCTGCTGGTGAACCTGGGC	0.587000														22			21		0	0	0.018920	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876923	74876923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:74876923C>T	uc001owb.3	+	3	772	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Missense_Mutation_p.A10V|SLCO2B1_uc001owc.3_Missense_Mutation_p.A10V|SLCO2B1_uc001owd.3_Missense_Mutation_p.A104V	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	126					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.V125E(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATCCTTGTGGCCCTGGCGGGC	0.592000														83			33		0	0	0.021022	0	0
CSMD3	114788	broad.mit.edu	37	8	113267621	113267621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:113267621C>T	uc003ynu.3	-	61	10057	c.9898G>A	c.(9898-9900)Gga>Aga	p.G3300R	CSMD3_uc003yns.3_Missense_Mutation_p.G2502R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3260R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3131R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3300	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTCTTTTTCCTTGGGCAGGT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				22			18		0	0	0.007413	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226662	87226662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:87226662G>A	uc003ydq.1	-	3	1491	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	SLC7A13_uc003ydr.1_3'UTR	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	465						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GACACATCAGGGAGGCAAATA	0.303000														15			11		0	0	0.013537	0	0
OR51F2	119694	broad.mit.edu	37	11	4843416	4843416	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:4843416C>T	uc010qyn.2	+	0	801	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTACCTCCCTCTCATCA	0.493000														22			14		0	0	0.016723	0	0
RPN1	6184	broad.mit.edu	37	3	128344386	128344386	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:128344386G>A	uc003ekr.1	-	7	1462	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	RPN1_uc011bkq.1_Silent_p.S290S	NM_002950	NP_002941	P04843	RPN1_HUMAN	Homo sapiens ribophorin I (RPN1), mRNA.	462					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CCTTGGTGATGGAGAAGTCCA	0.527000			T	EVI1	AML									43			76		0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152536512	152536512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:152536512C>T	uc021vrb.1	-	28	3096	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	NEB_uc002txu.3_Missense_Mutation_p.E1023K|NEB_uc021vrc.1_Missense_Mutation_p.E1023K|NEB_uc010fnx.3_Missense_Mutation_p.E1023K|NEB_uc021vrd.1_Missense_Mutation_p.E1023K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1023					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAATAATTTCCTCTCCTTTG	0.393000														47			4		0	0	0.009096	0	0
SOX6	55553	broad.mit.edu	37	11	16119221	16119222	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:16119221_16119222GG>AA	uc001mme.3	-	7	983_984	c.950_951CC>TT	c.(949-951)ccc>cTT	p.P317L	SOX6_uc001mmd.3_Missense_Mutation_p.P307L|SOX6_uc001mmf.3_Missense_Mutation_p.P304L|SOX6_uc001mmg.3_Missense_Mutation_p.P304L	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	304	Poly-Ala.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGAACTGTACGGGGTAGTTATC	0.465000														5			3		0	0	0.004672	0	0
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:44193018C>T	uc003tkl.2	-	1	560	c.90G>A	c.(88-90)ctG>ctA	p.L30L	GCK_uc003tkj.1_Silent_p.L29L|GCK_uc003tkk.1_Silent_p.L31L	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632000														373			300		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41067278	41067278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:41067278C>T	uc003jmj.4	-	2	623	c.133G>A	c.(133-135)Gac>Aac	p.D45N	HEATR7B2_uc021xxt.1_Missense_Mutation_p.D45N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	45							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCCAAGATGTCAGTATTCTGA	0.343000														3			3		0	0	0.004672	0	0
ANKRD5	63926	broad.mit.edu	37	20	10023803	10023803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:10023803G>A	uc002wno.3	+	3	773	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R127Q|ANKRD5_uc010gbz.3_5'UTR	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	127							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CCGACTAAGCGGCATTATCGC	0.393000														45			40		0	0	0.008740	0	0
PDPR	55066	broad.mit.edu	37	16	70190538	70190538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:70190538C>T	uc002eyf.1	+	18	3353	c.2396C>T	c.(2395-2397)aCc>aTc	p.T799I	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.T699I|PDPR_uc002eyg.1_Missense_Mutation_p.T466I|PDPR_uc002eyh.2_Missense_Mutation_p.T144I|PDPR_uc010vls.1_Missense_Mutation_p.T144I|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	799					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTTGGCAAGACCACCAGCAGT	0.557000														181			58		0	0	0.014410	0	0
CEP192	55125	broad.mit.edu	37	18	13056677	13056677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:13056677C>T	uc010xac.2	+	18	4168	c.4088C>T	c.(4087-4089)tCa>tTa	p.S1363L	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.S888L|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.S1104L	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	958										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATGGGATTCAGGAGTGACA	0.373000														82			70		0	0	0.014410	0	0
BAZ2B	29994	broad.mit.edu	37	2	160303331	160303331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:160303331G>A	uc002uao.3	-	5	1063	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	BAZ2B_uc002uap.3_Nonsense_Mutation_p.Q218*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.Q157*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.Q218*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.Q148*|BAZ2B_uc002uat.4_Nonsense_Mutation_p.Q157*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.Q218*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	220	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCAAAGGCTGGTTTTTGCTT	0.363000														108			31		0	0	0.019004	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350640	41350640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41350640C>T	uc002opl.4	-	7	1220	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	400					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ACTGGGGTCTCTCAGCACAGA	0.537000														50			27		0	0	0.009535	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008630	73008630	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:73008630T>C	uc003tyn.1	-	15	2462	c.2414A>G	c.(2413-2415)tAc>tGc	p.Y805C	MLXIPL_uc003tyj.1_Missense_Mutation_p.Y184C|MLXIPL_uc003tyk.1_Missense_Mutation_p.Y784C|MLXIPL_uc003tym.1_Missense_Mutation_p.Y786C|MLXIPL_uc003tyl.1_Missense_Mutation_p.Y803C|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.Y711C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	805					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGAGAGCAGTACTGGTCCAG	0.627000														51			33		0	0	0.019004	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522207	6522207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:6522207C>T	uc001anh.3	-	8	887	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	TNFRSF25_uc001ana.3_Missense_Mutation_p.A75T|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.A31T|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.A258T|TNFRSF25_uc001anf.3_Missense_Mutation_p.A221T|TNFRSF25_uc001ang.3_Missense_Mutation_p.A213T	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	258					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGTGTGGGCGCTGTCCAAG	0.637000														39			42		0	0	0.014410	0	0
RGS16	6004	broad.mit.edu	37	1	182571108	182571108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:182571108G>A	uc001gpl.4	-	3	534	c.380C>T	c.(379-381)cCt>cTt	p.P127L	RGS16_uc010pnv.1_Missense_Mutation_p.P127L	NM_002928	NP_002919	O15492	RGS16_HUMAN	Homo sapiens regulator of G-protein signaling 16 (RGS16), mRNA.	127	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AACCTCTTTAGGGGCCTCACT	0.562000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			64		0	0	0.014410	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514925	233514925	+	Missense_Mutation	SNP	G	A	A	rs76363344	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233514925G>A	uc001hvt.4	+	8	2434	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	KIAA1804_uc001hvu.4_Missense_Mutation_p.G171R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	725					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGCTCTGTATGGGTGCACCGT	0.537000														84			13		0	0	0.020292	0	0
CTSK	1513	broad.mit.edu	37	1	150769331	150769331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:150769331G>A	uc001evp.2	-	7	1163	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_000396	NP_000387	P43235	CATK_HUMAN	Homo sapiens cathepsin K (CTSK), mRNA.	312					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTATTTCGAGCCATGAGG	0.433000														110			63		0	0	0.014410	0	0
KRT73	319101	broad.mit.edu	37	12	53011880	53011880	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53011880G>A	uc001sas.3	-	0	464	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	143	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.K142N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGGAGGCGAACTTGTTGT	0.542000														66			76		0	0	0.014410	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255623	6255623	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:6255623C>T	uc001ije.3	+	1	498	c.114C>T	c.(112-114)atC>atT	p.I38I	PFKFB3_uc001ijd.3_Silent_p.I18I|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.I52I|PFKFB3_uc001ijf.3_Silent_p.I38I	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	38	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.I38I(3)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCACCGTCATCGTCATGGTGG	0.582000														13			82		0	0	0.014410	0	0
HRG	3273	broad.mit.edu	37	3	186395574	186395574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:186395574C>T	uc003fqq.3	+	6	1503	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	494	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCCAGACAATCAGCCCTTTCC	0.448000														69			29		0	0	0.008361	0	0
TRIT1	54802	broad.mit.edu	37	1	40323052	40323052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:40323052G>A	uc021olz.1	-	1	226	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TRIT1_uc001ceq.3_Intron|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Intron|TRIT1_uc001cen.3_Intron|TRIT1_uc001ceo.3_Intron|TRIT1_uc001cep.3_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	71					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTTGGGCAGAAACCTTGTT	0.438000														23			13		0	0	0.004007	0	0
AP1G1	164	broad.mit.edu	37	16	71807177	71807177	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71807177C>A	uc010cgg.3	-	3	729	c.415G>T	c.(415-417)Gca>Tca	p.A139S	AP1G1_uc021tkz.1_5'UTR|AP1G1_uc002fbb.3_Missense_Mutation_p.A162S|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc010vmh.1_Missense_Mutation_p.A221S|AP1G1_uc021tky.1_Missense_Mutation_p.A139S	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	139					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCTCTCCTGCAAGATCTCTG	0.423000														70			51		2.29192e-23	2.86965e-23	0.014410	1	0
SYNE1	23345	broad.mit.edu	37	6	152565696	152565697	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152565696_152565697GG>AA	uc021zhb.1	-	103	19890_19891	c.19667_19668CC>TT	c.(19666-19668)tcc>tTT	p.S6556F	SYNE1_uc003qos.4_Missense_Mutation_p.S1080F|SYNE1_uc003qot.4_Missense_Mutation_p.S6485F|SYNE1_uc003qou.4_Missense_Mutation_p.S6556F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6556					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.P6555P(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTTGCATGGACGGCTGCTC	0.441000										HNSCC(10;0.0054)				30			32		0	0	0.004672	0	0
FLT1	2321	broad.mit.edu	37	13	29041080	29041080	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:29041080C>T	uc001usb.3	-	2	633	c.348G>A	c.(346-348)aaG>aaA	p.K116K	FLT1_uc010aar.1_Silent_p.K116K|FLT1_uc001usc.3_Silent_p.K116K|FLT1_uc010tdp.1_Silent_p.K116K|FLT1_uc001usd.3_Silent_p.K116K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	116	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCCTTCTTCTTTGAAGTAG	0.358000														38			39		0	0	0.006230	0	0
OR10J1	26476	broad.mit.edu	37	1	159410103	159410104	+	Missense_Mutation	DNP	CC	TT	TT	rs62641747	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:159410103_159410104CC>TT	uc010piv.2	+	0	592_593	c.555_556CC>TT	c.(553-558)ccccac>ccTTac	p.H186Y	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	186					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GAAAGGTGCCCCACTTCTTCTG	0.485000														102			45		0	0	0.004672	0	0
OCLN	100506658	broad.mit.edu	37	5	68805337	68805337	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:68805337C>T	uc003jwu.3	+	2	856	c.420C>T	c.(418-420)ttC>ttT	p.F140F	OCLN_uc003jwv.4_Silent_p.F140F|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	140	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAAAGGGCTTCATGTTGGCCA	0.463000														44			23		0	0	0.004656	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517794	158517794	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158517794G>A	uc010pil.2	-	0	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCAGGAAAATGGAGAAAAAGA	0.443000														35			14		0	0	0.016723	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959952	117959952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:117959952C>T	uc004equ.3	+	3	1218	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	ZCCHC12_uc022cdh.1_Nonsense_Mutation_p.Q249*	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGTGGCATTTCAGGGCTCCCC	0.517000														40			22		0	0	0.010504	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813542	24813542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:24813542C>T	uc001iru.4	+	12	3150	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	KIAA1217_uc001irs.3_Missense_Mutation_p.S836F|KIAA1217_uc001irt.4_Missense_Mutation_p.S881F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S881F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S881F|KIAA1217_uc001irv.1_Missense_Mutation_p.S731F|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.S599F|KIAA1217_uc001irz.3_Missense_Mutation_p.S599F|KIAA1217_uc001irx.3_Missense_Mutation_p.S599F|KIAA1217_uc001iry.3_Missense_Mutation_p.S599F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	916					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGGCCAGCTCCCCAGCCGTC	0.632000														3			25		0	0	0.021523	0	0
MARCH11	441061	broad.mit.edu	37	5	16177888	16177888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:16177888G>A	uc003jfo.2	-	1	853	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	BC043001_uc003jfp.3_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	214						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TAACAGCAAAGTTCACAGGTC	0.398000														43			26		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179594547C>T	uc021vsy.1	-	59	14926	c.14701G>A	c.(14701-14703)Gaa>Aaa	p.E4901K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1562K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5828	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTATTTCATTCCCGTCT	0.428000														13			22		0	0	0.016522	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530692	84530692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:84530692G>A	uc011lst.2	+	3	714	c.613G>A	c.(613-615)Gat>Aat	p.D205N						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		TTCTCCCTTGGATTCCAAGTT	0.542000														73			49		0	0	0.014410	0	0
KIF6	221458	broad.mit.edu	37	6	39688569	39688569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:39688569C>T	uc003oot.2	-	1	180	c.85G>A	c.(85-87)Gat>Aat	p.D29N	KIF6_uc011dua.1_Missense_Mutation_p.D29N|KIF6_uc010jxb.1_Missense_Mutation_p.D29N	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	29	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATTTTTCATCTTCATCTATG	0.313000														33			16		0	0	0.004990	0	0
PLCB4	5332	broad.mit.edu	37	20	9459617	9459617	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:9459617G>A	uc021wam.1	+	35	3561	c.3546G>A	c.(3544-3546)caG>caA	p.Q1182Q	PLCB4_uc010gbx.3_Missense_Mutation_p.R1182K|PLCB4_uc021wal.1_Missense_Mutation_p.R1170K|PLCB4_uc002wnh.3_Missense_Mutation_p.R1017K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.P1181Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGACCGCAGACCAGCAACA	0.443000														15			11		0	0	0.010729	0	0
PKP2	5318	broad.mit.edu	37	12	33030801	33030801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:33030801G>A	uc001rlj.4	-	2	1128	c.1013C>T	c.(1012-1014)aCt>aTt	p.T338I	PKP2_uc001rlk.4_Missense_Mutation_p.T338I|PKP2_uc010skj.2_Missense_Mutation_p.T338I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	338			T -> A (in a patient with arrhythmogenic right ventricular cardiomyopathy).		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAGTGAAAGTGCTTCTCTC	0.612000														16			7		0	0	0.003080	0	0
TCP10	6953	broad.mit.edu	37	6	167790039	167790039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:167790039C>T	uc003qvv.1	-	4	783	c.571G>A	c.(571-573)Gga>Aga	p.G191R	TCP10_uc003qvu.3_Missense_Mutation_p.G191R|TCP10_uc003qvw.3_Missense_Mutation_p.G167R	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	218						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTCACCTTTCCGTCTTCAGAC	0.512000														68			38		0	0	0.014410	0	0
OR4D5	219875	broad.mit.edu	37	11	123811205	123811205	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123811205G>A	uc001pzk.1	+	0	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E293K(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACAAGGAAGTGATCATGGCCA	0.502000														46			55		0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38995400	38995400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:38995400G>A	uc002oit.3	+	50	8210	c.8080G>A	c.(8080-8082)Gag>Aag	p.E2694K	RYR1_uc002oiu.3_Missense_Mutation_p.E2694K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2694	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATACGACCCGGAGCTGTACCG	0.562000														40			16		0	0	0.006122	0	0
CNTN4	152330	broad.mit.edu	37	3	3084744	3084744	+	Silent	SNP	G	A	A	rs112921386	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:3084744G>A	uc003bpc.3	+	21	2934	c.2595G>A	c.(2593-2595)acG>acA	p.T865T	CNTN4_uc003bpb.1_Silent_p.T536T|CNTN4_uc021wsg.1_Silent_p.T865T|CNTN4_uc003bpe.3_Silent_p.T537T|CNTN4_uc003bpf.3_Silent_p.T536T|CNTN4_uc003bpg.3_Silent_p.T121T	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	865	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAAAATCACGAACTTAAAAG	0.393000														28			16		0	0	0.004007	0	0
ECEL1	9427	broad.mit.edu	37	2	233349717	233349717	+	Silent	SNP	G	A	A	rs36035767		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:233349717G>A	uc002vsv.2	-	3	1145	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	ECEL1_uc010fya.1_Silent_p.L314L|ECEL1_uc010fyb.1_Silent_p.L21L	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	314					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCCACTTGCAGGATCTCTTGG	0.627000														21			57		0	0	0.014410	0	0
NFE2L3	9603	broad.mit.edu	37	7	26192126	26192126	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:26192126A>T	uc003sxq.3	+	0	280	c.8A>T	c.(7-9)cAc>cTc	p.H3L		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	3					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						gcgATGAAGCACCTGAAGCGG	0.766000														15			4		0	0	0.009096	0	0
MST1P2	11209	broad.mit.edu	37	1	16976324	16976324	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:16976324C>T	uc010och.2	+	12		c.2169C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		ATGACACAGTCCTAAATGTGG	0.572000														79			22		0	0	0.006999	0	0
GPR98	84059	broad.mit.edu	37	5	89954091	89954091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:89954091C>T	uc003kju.3	+	20	4844	c.4748C>T	c.(4747-4749)cCa>cTa	p.P1583L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1583					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)		GCTTGTATACCAGAGGTAAGT	0.383000														16			11		0	0	0.013537	0	0
NETO1	81832	broad.mit.edu	37	18	70461424	70461424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:70461424C>T	uc002lkw.3	-	5	851	c.567G>A	c.(565-567)atG>atA	p.M189I	NETO1_uc002lky.2_Missense_Mutation_p.M189I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	189	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCCTTCCTTCATAATTTGTA	0.453000														45			28		0	0	0.006320	0	0
FAT2	2196	broad.mit.edu	37	5	150924393	150924393	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:150924393A>C	uc003lue.4	-	8	6308	c.6295T>G	c.(6295-6297)Ttg>Gtg	p.L2099V		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2099	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGTCCCCAAGTCCTCATCA	0.448000														57			22		0	0	0.007291	0	0
DSCAM	1826	broad.mit.edu	37	21	41550985	41550985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:41550985G>A	uc002yyq.1	-	14	3268	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	939	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.V938F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTGAGGGGAAACATCTTT	0.483000														65			40		0	0	0.013114	0	0
IGBP1	3476	broad.mit.edu	37	X	69353833	69353833	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:69353833C>T	uc004dxv.3	+	0	535	c.36C>T	c.(34-36)ctC>ctT	p.L12L	IGBP1_uc004dxw.3_Silent_p.L12L	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	12					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGCCGCGGCTCCCCGAGCTGT	0.552000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			18		0	0	0.007413	0	0
LOXL4	84171	broad.mit.edu	37	10	100019161	100019161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:100019161C>T	uc001kpa.1	-	4	839	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	230	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACTTAGGGTCCCTCATCTTC	0.567000														10			25		0	0	0.005443	0	0
HUWE1	10075	broad.mit.edu	37	X	53621488	53621488	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:53621488G>A	uc004dsp.3	-	30	3876	c.3474C>T	c.(3472-3474)ctC>ctT	p.L1158L	HUWE1_uc004dsn.3_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1158					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCGGAGCAGAGAAATTTTT	0.463000														15			3		0	0	0.004672	0	0
SRRM1	10250	broad.mit.edu	37	1	24978983	24978983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:24978983G>A	uc001bjm.3	+	6	1008	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SRRM1_uc010oel.2_Missense_Mutation_p.E262K|SRRM1_uc009vrh.1_Missense_Mutation_p.E223K|SRRM1_uc009vri.1_Missense_Mutation_p.E179K|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	262	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCTTCTCCGGAAAAAAATTC	0.443000														18			35		0	0	0.019004	0	0
ZNF774	342132	broad.mit.edu	37	15	90903974	90903974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:90903974C>T	uc002bpk.4	+	3	1097	c.911C>T	c.(910-912)tCg>tTg	p.S304L		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S304S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCCAGAGCTCGGATTTGATT	0.512000														94			77		0	0	0.014410	0	0
WWC1	23286	broad.mit.edu	37	5	167880980	167880980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:167880980G>A	uc003lzu.3	+	17	2626	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	WWC1_uc003lzv.3_Missense_Mutation_p.E845K|WWC1_uc011den.2_Missense_Mutation_p.E845K|WWC1_uc003lzw.3_Missense_Mutation_p.E644K|WWC1_uc010jjf.1_Missense_Mutation_p.E117K	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	845	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGGAGGTATGAGGAGACCAG	0.537000														19			20		0	0	0.007413	0	0
TRHDE	29953	broad.mit.edu	37	12	73046194	73046194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:73046194C>T	uc001sxa.3	+	15	2663	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	878					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAATTCCATTCCACCACAGCA	0.373000														9			10		0	0	0.010729	0	0
ADAM7	8756	broad.mit.edu	37	8	24365008	24365008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:24365008G>A	uc003xeb.3	+	20	2337	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	742					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D742Y(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAAGTAAAGATTCAAGAGG	0.398000														17			23		0	0	0.021523	0	0
OR52E4	390081	broad.mit.edu	37	11	5906298	5906298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5906298C>T	uc010qzs.2	+	0	776	c.776C>T	c.(775-777)tCt>tTt	p.S259F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S259Y(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATTTTTTTCTTTTATGACA	0.428000														23			7		0	0	0.006214	0	0
DPP6	1804	broad.mit.edu	37	7	153584807	153584807	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:153584807G>A	uc003wli.3	+	0	389	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_001039350	NP_001034439	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 3, mRNA.	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTAAGATGCAGGGGAACGTGA	0.592000														19			18		0	0	0.014323	0	0
TOPORS	10210	broad.mit.edu	37	9	32544245	32544245	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:32544245A>T	uc003zrb.3	-	2	470	c.278T>A	c.(277-279)gTa>gAa	p.V93E	TOPORS_uc003zrc.3_Missense_Mutation_p.V28E	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCAGCTGGTACTGTCTGTTG	0.378000														7			41		0	0	0.007835	0	0
SLC24A6	80024	broad.mit.edu	37	12	113745600	113745600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:113745600G>A	uc001tvc.3	-	12	1517	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	SLC24A6_uc001tuz.3_Missense_Mutation_p.A141V|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.A174V	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	436					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTCTGTGGCGGCCGCGTTGAT	0.617000														25			24		0	0	0.018920	0	0
TSIX	9383	broad.mit.edu	37	X	73042056	73042056	+	RNA	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:73042056G>A	uc004ebn.2	+	0		c.30017G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GATGGACTAGGAAAATGAAGT	0.468000														10			15		0	0	0.004990	0	0
TRIM73	378108	broad.mit.edu	37	7	75028289	75028289	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:75028289G>A	uc010ldc.3	+	1	272	c.72G>A	c.(70-72)aaG>aaA	p.K24K	TRIM73_uc003udc.1_Silent_p.K24K|TRIM73_uc010ldd.2_Silent_p.K24K	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	24						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGTCTTCAAGGAGTCCCTAA	0.617000														66			29		0	0	0.008361	0	0
DOCK3	1795	broad.mit.edu	37	3	51394410	51394410	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:51394410G>A	uc011bds.2	+	43	4544	c.4521G>A	c.(4519-4521)ctG>ctA	p.L1507L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1507	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGCCCTCTGGAGAATGCCA	0.507000														24			8		0	0	0.004482	0	0
PIP	5304	broad.mit.edu	37	7	142836249	142836249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142836249C>T	uc003wcf.1	+	2	319	c.283C>T	c.(283-285)Cca>Tca	p.P95S		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	95						extracellular region	actin binding	p.N94N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGACGACAATCCAAAAACCTT	0.453000														44			29		0	0	0.010818	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338837	2338837	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:2338837C>T	uc002lvs.3	+	3	536	c.456C>T	c.(454-456)ttC>ttT	p.F152F	SPPL2B_uc010dsw.1_Silent_p.F124F|SPPL2B_uc010dsy.1_Silent_p.F124F|SPPL2B_uc010dsz.1_Silent_p.F152F|SPPL2B_uc002lvr.3_Silent_p.F152F|SPPL2B_uc010dta.1_Silent_p.F5F|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	152	PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATCTTCACGGTAGGTC	0.642000														7			7		0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19446738	19446738	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:19446738G>A	uc001bbi.3	-	68	10250	c.10246C>T	c.(10246-10248)Ctg>Ttg	p.L3416L	UBR4_uc001bbj.1_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3416					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACTCTAACAGGAAACAACGC	0.552000														66			29		0	0	0.006320	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228865	57228865	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:57228865G>A	uc010lyk.1	-	1	680	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SDR16C5_uc003xsy.1_Silent_p.F14F|SDR16C5_uc010lyl.1_Silent_p.F14F	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	14					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATTTTCCTAAGAAAATGAACA	0.408000														25			16		0	0	0.004007	0	0
FBXO40	51725	broad.mit.edu	37	3	121340282	121340282	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121340282G>A	uc003eeg.2	+	2	216	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	2					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.M1I(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGTCCAGGGGAAAGCCCGCA	0.507000														69			33		0	0	0.021022	0	0
HBG1	3047	broad.mit.edu	37	11	5275669	5275669	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5275669C>A	uc001mai.1	-	1	605	c.168G>T	c.(166-168)atG>atT	p.M56I	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.M56I	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	56					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGTTGCCCATGATGGCAG	0.527000														47			21		1.49673e-21	1.87014e-21	0.006230	1	0
REXO1	57455	broad.mit.edu	37	19	1817251	1817251	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:1817251G>A	uc002lua.4	-	11	3263	c.3168C>T	c.(3166-3168)acC>acT	p.T1056T	REXO1_uc010dsq.3_Silent_p.T365T|REXO1_uc010xgs.1_Silent_p.T42T|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1056						nucleus	exonuclease activity|nucleic acid binding	p.T1056I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGGTGGGTGTCTCCTG	0.642000														20			5		0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136594359	136594359	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:136594359G>A	uc002tuu.1	-	0	392	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	127	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGATGACCATGGGCTGAAGCC	0.602000														12			31		0	0	0.008361	0	0
TNN	63923	broad.mit.edu	37	1	175092600	175092600	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175092600G>A	uc001gkl.1	+	11	2828	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	905	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W905L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCTGGGACCCGGTTC	0.517000														70			33		0	0	0.013726	0	0
DPYSL5	56896	broad.mit.edu	37	2	27164833	27164833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:27164833G>A	uc002rhu.4	+	9	1263	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	DPYSL5_uc002rhv.4_Missense_Mutation_p.D369N|DPYSL5_uc021vev.1_Missense_Mutation_p.D369N	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	369					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAAGATGGATGAGAACCG	0.532000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			106		0	0	0.014410	0	0
ZFP28	140612	broad.mit.edu	37	19	57066540	57066540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:57066540C>T	uc002qnj.3	+	7	2457	c.2386C>T	c.(2386-2388)Caa>Taa	p.Q796*	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AACCTTCATCCAAATTGGACA	0.378000														32			35		0	0	0.012213	0	0
ROS1	6098	broad.mit.edu	37	6	117686903	117686903	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:117686903C>T	uc003pxp.1	-	19	3012	c.2813_splice	c.e19-1	p.G938_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	938					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAAAAGTTCCCTACAGGAT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									8			7		0	0	0.003080	0	0
RAG1	5896	broad.mit.edu	37	11	36597233	36597233	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:36597233C>T	uc021qgb.1	+	0	2379	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.S793S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	793					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGTCCCTTCCATAGATGCAC	0.483000									Familial Hemophagocytic Lymphohistiocytosis					36			27		0	0	0.009535	0	0
ANKK1	255239	broad.mit.edu	37	11	113270695	113270695	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113270695G>A	uc001pny.3	+	7	2098	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	668							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGGCGGTCCAGAGGAGCACCT	0.647000														44			21		0	0	0.004656	0	0
BTBD7	55727	broad.mit.edu	37	14	93760501	93760501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:93760501G>A	uc001ybo.3	-	2	1191	c.865C>T	c.(865-867)Cga>Tga	p.R289*	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Nonsense_Mutation_p.R204*|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Nonsense_Mutation_p.R204*|BTBD7_uc001ybr.3_Nonsense_Mutation_p.R289*	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	289	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATAAATTTCGAAAAAATGGG	0.398000														27			17		0	0	0.004990	0	0
COL6A6	131873	broad.mit.edu	37	3	130311540	130311541	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:130311540_130311541GG>AA	uc010htl.3	+	14	4376	c.4345_splice	c.e14-1	p.G1449_splice	COL6A6_uc003eni.4_Splice_Site	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1449	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATTTTCAGGGAAACAGAGGA	0.337000														44			38		0	0	0.004672	0	0
SEMA3E	9723	broad.mit.edu	37	7	83022001	83022001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:83022001G>A	uc003uhy.2	-	13	2158	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.Q453*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	513	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AATCTGACTTGAGCCACAGCA	0.483000														25			23		0	0	0.014323	0	0
DNER	92737	broad.mit.edu	37	2	230341926	230341926	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230341926G>A	uc002vpv.3	-	6	1338	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	DNER_uc010zly.1_Silent_p.I125I	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	397	EGF-like 5.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGGTCTAGGATGCAGTAAT	0.403000														47			8		0	0	0.008291	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413617	105413617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:105413617C>T	uc010axc.1	-	6	8291	c.8171G>A	c.(8170-8172)gGa>gAa	p.G2724E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G2624E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2724						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTCCCTCGGGAAC	0.602000														134			100		0	0	0.014410	0	0
ATG2B	55102	broad.mit.edu	37	14	96800143	96800143	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:96800143C>T	uc001yfi.3	-	7	1454	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	363										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAATTCGATACTCGTCTTCCT	0.368000														31			34		0	0	0.005524	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245541	137245541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:137245541G>A	uc003qhe.3	+	1	1123	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	320					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCAGCCTCGGGGAGAGGAGGC	0.612000														23			9		0	0	0.006214	0	0
CD1B	910	broad.mit.edu	37	1	158299694	158299694	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158299694G>A	uc001frx.3	-	2	663	c.555C>T	c.(553-555)ccC>ccT	p.P185P	CD1B_uc001frw.3_Silent_p.P185P	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	185	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGAGATATCGGGGGCAGGTTT	0.468000														139			35		0	0	0.015359	0	0
KRT9	3857	broad.mit.edu	37	17	39725704	39725704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39725704C>T	uc002hxe.4	-	3	1084	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	340	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TTCTCGATGTCCTTTCTGTTC	0.493000														30			20		0	0	0.010504	0	0
TJP1	7082	broad.mit.edu	37	15	30010270	30010270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:30010270G>A	uc001zcr.3	-	21	4404	c.3929C>T	c.(3928-3930)cCc>cTc	p.P1310L	TJP1_uc010azl.3_Missense_Mutation_p.P1298L|TJP1_uc001zcq.3_Missense_Mutation_p.P1234L|TJP1_uc001zcs.3_Missense_Mutation_p.P1230L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1310					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGAGAAGTGGGTTTGGGACC	0.393000														204			132		0	0	0.014410	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428271	54428271	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:54428271C>T	uc002iun.1	+	3	377	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	114										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACTCTTCCTTCGATGAGGCCT	0.448000														10			8		0	0	0.004482	0	0
CACNA1D	776	broad.mit.edu	37	3	53814128	53814128	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:53814128C>T	uc003dgv.4	+	37	4826	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.R1575*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.R1540*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.R1222*|CACNA1D_uc003dgx.1_Nonsense_Mutation_p.R731*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1555					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCTTTGGTTCGAACGGCTCT	0.468000														52			22		0	0	0.021523	0	0
TWISTNB	221830	broad.mit.edu	37	7	19744493	19744493	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:19744493A>G	uc003sup.1	-	1	326	c.305T>C	c.(304-306)cTt>cCt	p.L102P		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	102						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AATATCTCCAAGCTCTCCCAC	0.348000														48			44		0	0	0.014410	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661379	21661380	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:21661379_21661380CC>TT	uc001rez.2	+	2	339_340	c.180_181CC>TT	c.(178-183)ttccaa>ttTTaa	p.Q61*	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	61	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						GATTCTTCTTCCAAAAACATAA	0.337000														21			29		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754474	140754474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140754474G>A	uc003ljy.2	+	0	824	c.824G>A	c.(823-825)gGg>gAg	p.G275E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.G275E	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	275	Cadherin 3.		G -> S (in dbSNP:rs2233603).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCCACGGGGAAGTAACT	0.433000														13			9		0	0	0.004482	0	0
ARL13A	392509	broad.mit.edu	37	X	100240789	100240789	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:100240789G>A	uc004ego.3	+	3	380	c.264G>A	c.(262-264)caG>caA	p.Q88Q	ARL13A_uc011mrf.2_Silent_p.Q88Q|ARL13A_uc010nng.3_Silent_p.Q88Q	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	88							GTP binding			endometrium(1)|ovary(1)	2						ACTATGCACAGGCCCATGGGC	0.473000														28			10		0	0	0.010729	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401670	1401670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1401670C>T	uc010nct.2	+	3	396	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.S25L|CSF2RA_uc004cpq.2_Missense_Mutation_p.S25L|CSF2RA_uc004cpn.2_Missense_Mutation_p.S25L|CSF2RA_uc004cpo.2_Missense_Mutation_p.S25L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.S25L|CSF2RA_uc010ncv.2_Missense_Mutation_p.S25L|CSF2RA_uc004cpr.2_Missense_Mutation_p.S25L	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	25						extracellular region|integral to plasma membrane	cytokine receptor activity	p.S25L(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGAGAAATCGGGTAAGTAT	0.532000														107			137		0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6153593	6153593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:6153593G>A	uc001qnn.1	-	17	2556	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	769	Amino-terminal.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACCATGGGGGGCCGACAGGA	0.542000														28			9		0	0	0.008291	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	G	G	rs35873108	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:132547138A>G	uc001ujn.3	+	46	8378	c.8226A>G	c.(8224-8226)caA>caG	p.Q2742Q	EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2778	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(6)|p.Q2742Q(3)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000														60			7		0	0	0.006214	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959780	45959780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:45959780C>T	uc002zfh.1	-	0	299	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	85	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						agccggctggcagctagacTG	0.682000														90			28		0	0	0.019004	0	0
OR51B4	79339	broad.mit.edu	37	11	5322877	5322877	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5322877G>A	uc010qza.2	-	0	300	c.300C>T	c.(298-300)ttC>ttT	p.F100F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F100L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATGAATGAAGGATTGGG	0.493000														27			13		0	0	0.013537	0	0
C16orf71	146562	broad.mit.edu	37	16	4787838	4787838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:4787838G>A	uc002cxn.3	+	2	629	c.167G>A	c.(166-168)cGa>cAa	p.R56Q		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	56										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ATCTTCCAGCGAAACCAAACC	0.592000														54			45		0	0	0.014410	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550330	2550331	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2550330_2550331CC>TT	uc002cql.3	+	6	1504_1505	c.1364_1365CC>TT	c.(1363-1365)ccc>cTT	p.P455L	TBC1D24_uc002cqk.3_Missense_Mutation_p.P449L|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	455	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CTGACCAAGCCCCCACCCTTGA	0.693000														19			13		0	0	0.004672	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689763	8689763	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:8689763T>C	uc001quo.1	-	3	485	c.320A>G	c.(319-321)aAc>aGc	p.N107S		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	107	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GGCTGAGCAGTTCTTTAAACT	0.478000														22			37		0	0	0.011902	0	0
OR10H2	26538	broad.mit.edu	37	19	15838868	15838868	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15838868C>T	uc002nbm.2	+	0	35	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGGGGCTAAACCACACCTCCA	0.562000														73			38		0	0	0.006230	0	0
WDR86	349136	broad.mit.edu	37	7	151093146	151093146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:151093146G>A	uc011kvk.1	-	2	891	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	WDR86_uc003wka.2_Missense_Mutation_p.P106S|WDR86_uc003wkb.2_Missense_Mutation_p.P148S|WDR86_uc003wkc.2_Missense_Mutation_p.P20S			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTCCCACGGGGCAGAGTAG	0.692000														14			17		0	0	0.006122	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156930235	156930235	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156930235G>A	uc001fqo.3	-	13	2177	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	ARHGEF11_uc001fqn.3_Silent_p.I419I	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	379	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATCTCAGGGATCTTCACTC	0.517000														62			45		0	0	0.014410	0	0
PORCN	64840	broad.mit.edu	37	X	48372689	48372689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:48372689C>T	uc010nie.1	+	8	939	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	PORCN_uc004djr.1_Missense_Mutation_p.L256F|PORCN_uc004djs.1_Missense_Mutation_p.L250F|PORCN_uc011mlx.1_Missense_Mutation_p.L179F|PORCN_uc004dju.1_Missense_Mutation_p.L119F|PORCN_uc004djv.1_Missense_Mutation_p.L261F|PORCN_uc004djw.1_Missense_Mutation_p.L255F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	261					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.F260S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGGGCTTTCTTTCCGAGGC	0.617000														27			41		0	0	0.006230	0	0
C12orf12	196477	broad.mit.edu	37	12	91348005	91348005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:91348005G>A	uc001tbj.3	-	0	949	c.515C>T	c.(514-516)cCg>cTg	p.P172L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	172										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGCTTGACCGGCCGCGGCAG	0.667000														24			26		0	0	0.012213	0	0
NUBP1	4682	broad.mit.edu	37	16	10855241	10855242	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:10855241_10855242CC>TT	uc002daa.1	+	7	650_651	c.627_628CC>TT	c.(625-630)gtccgg>gtTTgg	p.R210W	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|NUBP1_uc010bum.1_Missense_Mutation_p.R75W|NUBP1_uc002dab.1_Missense_Mutation_p.R199W	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	210					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TCCAGGATGTCCGGAAAGAAAT	0.540000														35			15		0	0	0.004672	0	0
OR2T6	254879	broad.mit.edu	37	1	248551397	248551397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248551397C>T	uc001iei.1	+	0	488	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACCCCCATTACCATGAGTCTC	0.552000														24			20		0	0	0.008871	0	0
PLCB2	5330	broad.mit.edu	37	15	40581116	40581117	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:40581116_40581117GG>AA	uc001zld.3	-	31	3658_3659	c.3357_3358CC>TT	c.(3355-3360)ttccag>ttTTag	p.Q1120*	PLCB2_uc001zlc.3_Nonsense_Mutation_p.Q104*|PLCB2_uc010bbo.3_Nonsense_Mutation_p.Q1116*|PLCB2_uc010ucm.2_Nonsense_Mutation_p.Q1105*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1120					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGAG	0.629000														27			31		0	0	0.004672	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237214	22237214	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:22237214G>A	uc001wbt.1	+	1	298	c.291G>A	c.(289-291)agG>agA	p.R97R	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		AAGAAAAAAGGAAAGAAAGAC	0.443000														33			43		0	0	0.007835	0	0
GSDMC	56169	broad.mit.edu	37	8	130789651	130789651	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:130789651G>A	uc003ysr.3	-	1	1065	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	61						mitochondrion		p.S61S(2)|p.S61F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGTCATTGAGGGAGAATTCAA	0.433000														25			16		0	0	0.004990	0	0
ZPBP2	124626	broad.mit.edu	37	17	38026953	38026953	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:38026953T>G	uc002hte.3	+	2	278	c.125T>G	c.(124-126)aTa>aGa	p.I42R	ZPBP2_uc002htf.3_Missense_Mutation_p.I20R	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	42					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACAGACAAAATATATGTAGAG	0.303000														23			25		0	0	0.005443	0	0
PRX	57716	broad.mit.edu	37	19	40902512	40902513	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:40902512_40902513GG>AA	uc002onr.3	-	6	2015_2016	c.1746_1747CC>TT	c.(1744-1749)gtccct>gtTTct	p.P583S	PRX_uc002onq.3_Missense_Mutation_p.P444S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	583	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCATCTCAGGGACTTTCATCT	0.554000														213			67		0	0	0.004672	0	0
TRO	7216	broad.mit.edu	37	X	54957177	54957177	+	Silent	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:54957177T>A	uc004dtq.3	+	11	4127	c.4020T>A	c.(4018-4020)ggT>ggA	p.G1340G	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.G871G|TRO_uc004dtw.3_Silent_p.G943G|TRO_uc004dtx.3_Silent_p.G723G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1340	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTGGCAGTGGTTCCAACACCA	0.562000														77			30		0	0	0.009535	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961104	73961104	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:73961104C>T	uc004eby.3	-	2	3905	c.3288G>A	c.(3286-3288)aaG>aaA	p.K1096K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1096					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGAACCCCTTTAGTGTTC	0.502000														22			32		0	0	0.009535	0	0
SORL1	6653	broad.mit.edu	37	11	121500230	121500230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:121500230G>A	uc001pxx.3	+	47	6732	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	SORL1_uc010rzp.1_Missense_Mutation_p.M1047I|SORL1_uc010rzq.1_Missense_Mutation_p.M816I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2201					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATGCCCCTATGATAACTGGAT	0.423000														18			39		0	0	0.013114	0	0
HPX	3263	broad.mit.edu	37	11	6453222	6453222	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:6453222G>A	uc001mdg.2	-	7	922	c.861C>T	c.(859-861)acC>acT	p.T287T	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	287	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CATCCCGGCTGGTGTCCAGAC	0.572000														49			25		0	0	0.021523	0	0
DCAF5	8816	broad.mit.edu	37	14	69522035	69522036	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:69522035_69522036GT>AA	uc001xkp.3	-	8	1586_1587	c.1367_1368AC>TT	c.(1366-1368)tac>tTT	p.Y456F	DCAF5_uc001xkq.3_Missense_Mutation_p.Y455F	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	456						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTGAGTCAGTGTAGCCTGAGCG	0.619000														32			21		0	0	0.004672	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:3266305G>A	uc010uwv.2	+	0	744	c.596G>A	c.(595-597)gGa>gAa	p.G199E						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TCCACAAAGGGAAGATGGAAA	0.527000														21			26		0	0	0.006320	0	0
ZNF676	163223	broad.mit.edu	37	19	22363533	22363533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:22363533C>T	uc002nqs.1	-	2	1304	c.986G>A	c.(985-987)aGa>aAa	p.R329K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.408000														47			15		0	0	0.004990	0	0
C18orf1	753	broad.mit.edu	37	18	13645318	13645318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:13645318G>A	uc002ksa.2	+	6	1251	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	C18orf1_uc002ksb.2_Missense_Mutation_p.E177K|C18orf1_uc002kse.2_Missense_Mutation_p.E158K|C18orf1_uc002ksf.2_Missense_Mutation_p.E140K|C18orf1_uc002ksg.1_Missense_Mutation_p.E118K|C18orf1_uc002ksh.1_Missense_Mutation_p.E137K|C18orf1_uc002ksi.1_Missense_Mutation_p.E119K	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	195						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		CCGGGACCCTGAACAGCAGAT	0.567000														62			49		0	0	0.014410	0	0
KCNS3	3790	broad.mit.edu	37	2	18112726	18112726	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:18112726C>T	uc021veh.1	+	0	451	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	KCNS3_uc002rcv.3_Silent_p.L151L|KCNS3_uc002rcw.3_Silent_p.L151L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	151					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGAGTCGTCTCTGTTTGAGAA	0.502000														25			58		0	0	0.014410	0	0
TAF1	6872	broad.mit.edu	37	X	70586253	70586253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:70586253C>T	uc004dzu.4	+	0	140	c.89C>T	c.(88-90)tCc>tTc	p.S30F	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S30F	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	30	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACGAAGATTCCGCTGGAGGC	0.582000														75			29		0	0	0.012213	0	0
TMEM67	91147	broad.mit.edu	37	8	94770771	94770772	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:94770771_94770772GG>AA	uc011lgk.2	+	2	444_445	c.373_374GG>AA	c.(373-375)gga>AAa	p.G125K	TMEM67_uc010mav.3_Missense_Mutation_p.G125K|TMEM67_uc010mat.1_Missense_Mutation_p.G40K|TMEM67_uc010maw.2_Missense_Mutation_p.G125K|TMEM67_uc003yga.4_5'UTR	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	125					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTGCCGAAGGAAAATGTCAC	0.307000														61			25		0	0	0.004672	0	0
LPPR4	9890	broad.mit.edu	37	1	99767390	99767390	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:99767390T>A	uc001dse.3	+	5	1061	c.903T>A	c.(901-903)taT>taA	p.Y301*	LPPR4_uc010oue.2_Intron	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	301							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAACTCAGTATAAGAACCACC	0.373000														14			20		0	0	0.012319	0	0
AGK	55750	broad.mit.edu	37	7	141315335	141315335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:141315335C>T	uc003vwi.2	+	7	659	c.488C>T	c.(487-489)aCc>aTc	p.T163I	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	163	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTGAGTCATACCCTCTTTGCC	0.433000														131			106		0	0	0.014410	0	0
DOPEY1	23033	broad.mit.edu	37	6	83877668	83877668	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:83877668G>T	uc011dyy.2	+	39	7473	c.7213G>T	c.(7213-7215)Gag>Tag	p.E2405*	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Nonsense_Mutation_p.E2394*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.E2385*|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2394					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCGCAGTATGGAGCAGCTCCT	0.512000														15			10		2.17888e-05	2.68358e-05	0.006214	1	0
SLC38A11	151258	broad.mit.edu	37	2	165802111	165802111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:165802111G>A	uc002ucw.2	-	2	519	c.188C>T	c.(187-189)cCt>cTt	p.P63L	SLC38A11_uc002ucu.2_Missense_Mutation_p.P63L|SLC38A11_uc002ucv.2_Missense_Mutation_p.P63L	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	63					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCTATAAAAGGATACAAAAA	0.358000														47			15		0	0	0.004007	0	0
OR2L3	391192	broad.mit.edu	37	1	248224365	248224365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248224365C>T	uc001idx.1	+	0	382	c.382C>T	c.(382-384)Cct>Tct	p.P128S	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F127L(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATTTGCTTTCCTCTTCACTA	0.448000														77			103		0	0	0.014410	0	0
IL6ST	3572	broad.mit.edu	37	5	55237545	55237545	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:55237545G>A	uc003jqq.3	-	16	2435	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Silent_p.L27L|IL6ST_uc011cqk.2_Silent_p.L419L|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Silent_p.L647L	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	708					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AATGATTTCAGATCTTCTGGA	0.363000			O		hepatocellular ca									57			28		0	0	0.007291	0	0
EP400	57634	broad.mit.edu	37	12	132529392	132529392	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:132529392C>T	uc001ujn.3	+	36	6830	c.6678C>T	c.(6676-6678)ctC>ctT	p.L2226L	EP400_uc021rgq.1_Silent_p.L2225L|EP400_uc001ujm.3_Silent_p.L2145L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2262					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACATCTACCTCGACTCGGTCA	0.592000														45			49		0	0	0.014410	0	0
OR2J2	26707	broad.mit.edu	37	6	29141771	29141771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:29141771C>T	uc011dlm.2	+	0	461	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTGGTGATGTCATATGATCGT	0.483000														116			37		0	0	0.006999	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827207	5827208	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:5827207_5827208CC>TT	uc010ndi.3	-	4	1273_1274	c.809_810GG>AA	c.(808-810)tgg>tAA	p.W270*	NLGN4X_uc004crp.3_Nonsense_Mutation_p.W253*|NLGN4X_uc010ndh.3_Nonsense_Mutation_p.W233*|NLGN4X_uc004crq.3_Nonsense_Mutation_p.W233*|NLGN4X_uc004crr.3_Nonsense_Mutation_p.W233*|NLGN4X_uc010ndj.3_Nonsense_Mutation_p.W233*	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	233					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCCTCAATCCACCGCAGTGC	0.540000														43			17		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216017817	216017817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:216017817G>A	uc001hku.1	-	45	9464	c.9077C>T	c.(9076-9078)cCa>cTa	p.P3026L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3026	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACAACCTCTGGAGGAAGCAT	0.393000										HNSCC(13;0.011)				38			8		0	0	0.004482	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124413431C>T	uc010sam.2	-	0	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000														21			32		0	0	0.009535	0	0
GCK	2645	broad.mit.edu	37	7	44186147	44186147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:44186147C>T	uc003tkl.2	-	7	1404	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	GCK_uc003tkj.1_Missense_Mutation_p.E311K|GCK_uc003tkk.1_Missense_Mutation_p.E313K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	312					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCAGGTTTTCGTCCACGAGC	0.617000														267			199		0	0	0.014410	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063325	76063325	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:76063325C>A	uc001oxh.1	-	4	869	c.869G>T	c.(868-870)aGa>aTa	p.R290I	PRKRIR_uc021qnn.1_Missense_Mutation_p.R115I|PRKRIR_uc010rrz.1_Missense_Mutation_p.R115I	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	290					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAATTCCTCTCTTAGGTTATG	0.413000														19			10		1.08611e-07	1.34455e-07	0.010729	1	0
TAS2R60	338398	broad.mit.edu	37	7	143141456	143141456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:143141456G>A	uc011ktg.2	+	0	911	c.911G>A	c.(910-912)aGa>aAa	p.R304K	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	304					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGGCTGAGAGCTGTGCTG	0.493000														75			62		0	0	0.014410	0	0
C1orf114	57821	broad.mit.edu	37	1	169391179	169391179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169391179G>A	uc001gga.1	-	2	658	c.490C>T	c.(490-492)Cct>Tct	p.P164S	C1orf114_uc001gfz.1_Missense_Mutation_p.P164S|C1orf114_uc009wvq.1_Missense_Mutation_p.P164S|C1orf114_uc001ggb.3_Missense_Mutation_p.P164S|C1orf114_uc001ggc.1_Missense_Mutation_p.P164S	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	164								p.P164S(2)|p.P164H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTAGTGGAGGAACTTCCAAA	0.338000														51			22		0	0	0.012319	0	0
KIAA0913	23053	broad.mit.edu	37	10	75548547	75548547	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75548547T>A	uc001jvj.3	+	1	583	c.328T>A	c.(328-330)Ttt>Att	p.F110I	KIAA0913_uc001jve.3_Missense_Mutation_p.F110I|KIAA0913_uc009xrl.3_Missense_Mutation_p.F110I|KIAA0913_uc001jvf.3_Missense_Mutation_p.F110I|KIAA0913_uc001jvh.3_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	110							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CCGAATTGCTTTTTGGAGCTT	0.532000														3			17		0	0	0.004007	0	0
NTN5	126147	broad.mit.edu	37	19	49167017	49167017	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49167017C>A	uc002pkb.3	-	5	1120	c.1024_splice	c.e5+1	p.D342_splice	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Missense_Mutation_p.G342V	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	342						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GACTGTCTTACCAGAGCTATA	0.542000														37			16		3.32936e-07	4.11314e-07	0.006122	1	0
CDH20	28316	broad.mit.edu	37	18	59221637	59221637	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:59221637C>T	uc010dps.1	+	10	2267	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	CDH20_uc002lif.2_Silent_p.I699I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGCCCGAGATCGAGAGCCTCT	0.677000														30			28		0	0	0.005443	0	0
ESCO2	157570	broad.mit.edu	37	8	27657108	27657108	+	Silent	SNP	G	A	A	rs149917909		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:27657108G>A	uc003xgg.3	+	9	1631	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	ESCO2_uc010luy.1_Non-coding_Transcript	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	516					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CAAGCTCTACGGAATGTCCTA	0.458000									SC Phocomelia syndrome					63			48		0	0	0.014410	0	0
AMY2B	280	broad.mit.edu	37	1	104115688	104115688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:104115688C>T	uc010ouo.2	+	14	2023	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	AMY2B_uc001duq.3_Missense_Mutation_p.R107C|AMY2B_uc001dur.3_Missense_Mutation_p.R107C|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTCTAGGTTCGTATTTATGT	0.363000														121			104		0	0	0.014410	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397803	23397803	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:23397803C>T	uc004dal.4	+	1	455	c.447C>T	c.(445-447)atC>atT	p.I149I	PTCHD1_uc010nfu.2_Silent_p.I149I	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	149					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGACTTGCATCGTGGATGACA	0.453000														59			20		0	0	0.008871	0	0
EPHA7	2045	broad.mit.edu	37	6	93953210	93953210	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:93953210G>A	uc003poe.3	-	16	3172	c.2931C>T	c.(2929-2931)atC>atT	p.I977I	EPHA7_uc003pof.3_Silent_p.I972I|EPHA7_uc011eac.2_Silent_p.I973I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	977	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.I977M(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCTGCTCATGATTTTCTTTT	0.373000														31			17		0	0	0.014323	0	0
FLNB	2317	broad.mit.edu	37	3	58094262	58094262	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:58094262G>A	uc003djj.2	+	12	2184	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	FLNB_uc010hne.2_Silent_p.K673K|FLNB_uc003djk.2_Silent_p.K673K|FLNB_uc010hnf.2_Silent_p.K673K|FLNB_uc003djl.2_Silent_p.K504K|FLNB_uc003djm.2_Silent_p.K504K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	673					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATCCTAAGGATGCTGGAA	0.478000														22			18		0	0	0.010504	0	0
ATP1A3	478	broad.mit.edu	37	19	42482370	42482370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42482370G>A	uc002osh.3	-	12	1893	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	ATP1A3_uc010xwf.2_Missense_Mutation_p.S591F|ATP1A3_uc010xwg.2_Missense_Mutation_p.S550F|ATP1A3_uc002osg.3_Missense_Mutation_p.S580F|ATP1A3_uc010xwh.2_Missense_Mutation_p.S593F			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	580					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCGATCATGGACATGAGGCC	0.617000														31			10		0	0	0.010729	0	0
UNC79	57578	broad.mit.edu	37	14	94046595	94046595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94046595G>A	uc001ybv.1	+	15	2086	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	UNC79_uc001ybs.1_Missense_Mutation_p.G668E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	845						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCTGGGGGGGATCCCACACC	0.448000														45			35		0	0	0.013726	0	0
HOOK2	29911	broad.mit.edu	37	19	12878890	12878890	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:12878890C>T	uc002muy.2	-	11	1323	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	HOOK2_uc002muz.2_Silent_p.E384E	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	384	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ATAGCCATTTCTCGGCCTTCA	0.597000														53			35		0	0	0.019004	0	0
ATP1A1	476	broad.mit.edu	37	1	116932209	116932209	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:116932209C>T	uc001ege.3	+	7	1242	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ATP1A1_uc010owv.1_Silent_p.F270F|ATP1A1_uc010oww.2_Silent_p.F301F|ATP1A1_uc010owx.2_Silent_p.F270F	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	301					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGGCTGTGTTCCTGGGTGTGT	0.502000														27			36		0	0	0.019004	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:86808051G>A	uc002blz.1	+	9	1591	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_uc002bma.1_Missense_Mutation_p.R235Q|AGBL1_uc002bmb.1_Missense_Mutation_p.R198Q	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000														46			28		0	0	0.009535	0	0
RSPO1	284654	broad.mit.edu	37	1	38079494	38079495	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:38079494_38079495CC>TT	uc001cbl.2	-	6	1398_1399	c.506_507GG>AA	c.(505-507)cgg>cAA	p.R169Q	RSPO1_uc009vvf.2_Missense_Mutation_p.R142Q|RSPO1_uc001cbm.2_Missense_Mutation_p.R169Q|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGAGCCCCTCCGGAAACCACA	0.629000														51			13		0	0	0.004672	0	0
PLXNB1	5364	broad.mit.edu	37	3	48455372	48455372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:48455372G>A	uc003csw.2	-	21	4588	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.P1257S|PLXNB1_uc003csx.2_Missense_Mutation_p.P1440S|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1440					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCTCCACGGGGGGCTCGCAG	0.657000														18			20		0	0	0.008871	0	0
OR10H1	26539	broad.mit.edu	37	19	15918416	15918416	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15918416C>T	uc002nbq.2	-	0	521	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGCCCACCAGGCAGGCGC	0.632000														31			22		0	0	0.010504	0	0
LCE3D	84648	broad.mit.edu	37	1	152552228	152552228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:152552228C>T	uc021oza.1	-	0	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	LCE3D_uc001fab.3_Missense_Mutation_p.R62Q	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	62					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCGCCGGCATCGGTGGTGGCG	0.687000														95			48		0	0	0.013114	0	0
COL13A1	1305	broad.mit.edu	37	10	71697410	71697410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:71697410G>A	uc001jql.3	+	32	2320	c.1784G>A	c.(1783-1785)gGa>gAa	p.G595E	COL13A1_uc021prz.1_Missense_Mutation_p.G558E|COL13A1_uc021psa.1_Missense_Mutation_p.G523E|COL13A1_uc021psb.1_Missense_Mutation_p.G529E|COL13A1_uc001jqk.2_Missense_Mutation_p.G573E|COL13A1_uc021psc.1_Missense_Mutation_p.G576E|COL13A1_uc021psd.1_Missense_Mutation_p.G558E|COL13A1_uc010qjf.2_Missense_Mutation_p.G523E|COL13A1_uc021pse.1_Missense_Mutation_p.G529E|COL13A1_uc021psf.1_Missense_Mutation_p.G595E|COL13A1_uc021psg.1_Missense_Mutation_p.G573E|COL13A1_uc021psh.1_Missense_Mutation_p.G576E	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	595	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACTAGATGGAGCAAAAGGA	0.547000														2			13		0	0	0.016723	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804540	113804540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:113804540C>T	uc003eaz.3	+	8	1159	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	QTRTD1_uc003eay.3_Missense_Mutation_p.P346L|QTRTD1_uc011biq.2_Missense_Mutation_p.P223L|QTRTD1_uc011bir.2_Missense_Mutation_p.P240L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	346					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.P346Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GACTTTAACCCGCTGGTGAGA	0.483000														104			35		0	0	0.009718	0	0
OR52N4	390072	broad.mit.edu	37	11	5776645	5776645	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5776645G>A	uc001mbu.3	+	0	723	c.675G>A	c.(673-675)cgG>cgA	p.R225R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L224R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGATTCTCCGGGCAGTGGTCA	0.488000														21			25		0	0	0.021523	0	0
PLCL1	5334	broad.mit.edu	37	2	198950722	198950722	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:198950722C>T	uc010fsp.3	+	1	2879	c.2481C>T	c.(2479-2481)ccC>ccT	p.P827P	PLCL1_uc002uuv.4_Silent_p.P748P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	827					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCATGTTCCCCTGCGTTCTT	0.453000														24			11		0	0	0.008291	0	0
THSD4	79875	broad.mit.edu	37	15	71535119	71535119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:71535119C>T	uc002atb.1	+	3	675	c.596C>T	c.(595-597)tCc>tTc	p.S199F	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCGCCATTCCAGGTCCCAG	0.567000														58			45		0	0	0.009718	0	0
HIF1A	3091	broad.mit.edu	37	14	62187153	62187153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:62187153G>A	uc001xfq.2	+	1	493	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	HIF1A_uc010tsc.1_Intron|HIF1A_uc001xfr.2_Missense_Mutation_p.R30Q|HIF1A_uc001xfs.2_Missense_Mutation_p.R31Q|HIF1A_uc021rua.1_Missense_Mutation_p.R54Q	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	30	Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGATCTCGGCGAAGTAAAGAA	0.413000														34			36		0	0	0.021022	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134871	233134871	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233134871C>T	uc001hvl.2	-	30	5818	c.5583G>A	c.(5581-5583)tgG>tgA	p.W1861*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.W513*|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1861						integral to membrane		p.W1861C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGTCCAGAACCAGGTCCTAA	0.522000														20			25		0	0	0.021523	0	0
FAM47C	442444	broad.mit.edu	37	X	37028775	37028775	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:37028775G>A	uc004ddl.2	+	0	2344	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	764								p.R763C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCGGAGCCTCCTG	0.622000														54			28		0	0	0.009535	0	0
POLR2J	5439	broad.mit.edu	37	7	102114972	102114972	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:102114972T>C	uc003uzp.1	-	2	228	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E		NM_006234	NP_006225	P52435	RPB11_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa (POLR2J), mRNA.	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						TGCGGGTCTTTTAGGAGTTGT	0.562000														22			88		0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62293766	62293766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:62293766G>A	uc001ntl.3	-	4	8423	c.8123C>T	c.(8122-8124)tCc>tTc	p.S2708F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2708					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGCATGGAGATCTTGGG	0.463000														88			56		0	0	0.014410	0	0
CNDP1	84735	broad.mit.edu	37	18	72228144	72228144	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:72228144G>A	uc002llq.3	+	3	568	c.357G>A	c.(355-357)ggG>ggA	p.G119G	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	119					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCGAACTGGGGAGCGATCCCA	0.567000														102			97		0	0	0.014410	0	0
C17orf70	80233	broad.mit.edu	37	17	79517371	79517371	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:79517371G>A	uc002kaq.3	-	2	1222	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.P232P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	383					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCCTTCTTCGGGCTGCTCAG	0.672000														78			69		0	0	0.014410	0	0
CD22	933	broad.mit.edu	37	19	35836598	35836598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35836598C>T	uc010edt.3	+	11	2386	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	CD22_uc010edu.3_Missense_Mutation_p.P680S|CD22_uc010edv.3_Intron|CD22_uc002nzb.4_Missense_Mutation_p.P591S|CD22_uc010xst.2_Missense_Mutation_p.P596S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	768					cell adhesion		protein binding|sugar binding	p.P768P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTGCGCTTTCCCGAGATGAA	0.602000														33			50		0	0	0.014410	0	0
INTS4L1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:64643370C>T	uc003ttw.3	+	5		c.777C>T								Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA.																		CAGAGATATTCGAGAGGCTCT	0.398000														16			21		0	0	0.016522	0	0
RPL18	6141	broad.mit.edu	37	19	49119189	49119189	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49119189G>A	uc002pjq.1	-	5	469	c.436C>T	c.(436-438)Cga>Tga	p.R146*	FAM83E_uc002pjn.2_5'Flank	NM_000979	NP_000970	Q07020	RL18_HUMAN	Homo sapiens ribosomal protein L18 (RPL18), mRNA.	146					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.R146Q(1)		cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TACACCTCTCGGCCCTTGCGA	0.652000														8			7		0	0	0.003080	0	0
ASAP3	55616	broad.mit.edu	37	1	23763958	23763958	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:23763958C>T	uc001bha.2	-	12	1234	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc010odz.1_Silent_p.R239R|ASAP3_uc010oea.1_Silent_p.R361R	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	370	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.R370Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGTGGTACGTCCGGTTGTCTG	0.677000														16			20		0	0	0.016522	0	0
ANK3	288	broad.mit.edu	37	10	61832809	61832809	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:61832809C>T	uc001jky.3	-	36	8168	c.7830G>A	c.(7828-7830)gaG>gaA	p.E2610E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2610					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGCCTTTTTCTCTGGGGACT	0.448000														4			31		0	0	0.013726	0	0
POTEE	445582	broad.mit.edu	37	2	132021862	132021862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:132021862G>A	uc002tsn.2	+	14	2886	c.2834G>A	c.(2833-2835)gGc>gAc	p.G945D	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.G545D|POTEE_uc002tsl.2_Missense_Mutation_p.G527D|POTEE_uc010fmy.1_Missense_Mutation_p.G409D	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	945	Actin-like.						ATP binding										CTGCCCGATGGCCAGGTCATC	0.602000														164			49		0	0	0.014410	0	0
NF1	4763	broad.mit.edu	37	17	29662004	29662004	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:29662004G>A	uc002hgg.3	+	39	6344	c.5961G>A	c.(5959-5961)caG>caA	p.Q1987Q	NF1_uc002hgh.3_Silent_p.Q1966Q|NF1_uc010cso.3_Silent_p.Q175Q|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1987					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.K1986fs*27(2)|p.Q1987*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGAAAAACAGATGTACCCAT	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				36			33		0	0	0.017118	0	0
TTN	7273	broad.mit.edu	37	2	179430716	179430717	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179430716_179430717CC>TT	uc021vsy.1	-	274	72663_72664	c.72438_72439GG>AA	c.(72436-72441)aaggtc>aaAAtc	p.V24147I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17842I|TTN_uc021vta.1_Missense_Mutation_p.V17775I|TTN_uc021vtb.1_Missense_Mutation_p.V17650I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25074	Fibronectin type-III 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTCTTGACCTTTGCCCCTC	0.431000														78			27		0	0	0.004672	0	0
NEBL	10529	broad.mit.edu	37	10	21120139	21120139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:21120139C>T	uc001iqi.3	-	15	2054	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	553					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATAGATTTCAGATGTCCTC	0.378000														4			18		0	0	0.007413	0	0
WDR62	284403	broad.mit.edu	37	19	36574029	36574029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:36574029C>T	uc002odd.2	+	10	1527	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	WDR62_uc002odc.2_Missense_Mutation_p.P479L	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	479					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCACACTTCCCAGACCGGGGG	0.612000														16			4		0	0	0.009096	0	0
OR4X2	119764	broad.mit.edu	37	11	48267327	48267327	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:48267327G>A	uc001ngs.1	+	0	672	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTCTGAAGGGTGGTGCAAAG	0.527000														11			15		0	0	0.003163	0	0
GRM8	2918	broad.mit.edu	37	7	126086239	126086239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:126086239C>T	uc003vlr.2	-	8	2929	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G873E|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	873					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTGTCATTTCCTTTTTGGAT	0.438000										HNSCC(24;0.065)				20			20		0	0	0.007413	0	0
MORC2	22880	broad.mit.edu	37	22	31333803	31333803	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:31333803G>A	uc003aje.1	-	15	2547	c.1183_splice	c.e15+1	p.A395_splice		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	457							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCCCATTACCGATGGCAATAT	0.537000														47			45		0	0	0.014410	0	0
MMD	23531	broad.mit.edu	37	17	53471727	53471727	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:53471727G>A	uc002iui.3	-	6	970	c.685C>T	c.(685-687)Cga>Tga	p.R229*		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTAGGACTTCGGTAAAGGTAT	0.468000														112			95		0	0	0.014410	0	0
BEST3	144453	broad.mit.edu	37	12	70072605	70072605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:70072605G>A	uc001svg.3	-	4	777	c.550C>T	c.(550-552)Cca>Tca	p.P184S	BEST3_uc001svd.2_Missense_Mutation_p.P184S|BEST3_uc001svf.3_Missense_Mutation_p.P22S|BEST3_uc010stm.2_Missense_Mutation_p.P78S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	184						chloride channel complex|plasma membrane	chloride channel activity	p.R184W(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGATGAATGGAACCCAATAT	0.353000														20			32		0	0	0.010818	0	0
HMGCS2	3158	broad.mit.edu	37	1	120311394	120311394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:120311394G>A	uc001eid.3	-	0	162	c.74C>T	c.(73-75)cCt>cTt	p.P25L	HMGCS2_uc010oxj.2_Missense_Mutation_p.P25L	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	25					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CAGGCGAGCAGGTGTGAGGGA	0.517000														39			51		0	0	0.014410	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370407	38370407	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:38370407C>T	uc003jlc.2	+	5	901	c.555C>T	c.(553-555)ttC>ttT	p.F185F	EGFLAM_uc003jlb.2_Silent_p.F185F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	185	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCCAGATTTCGACAAGAAGT	0.448000														48			32		0	0	0.019004	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751423	10751423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:10751423C>T	uc003mzk.4	+	3	322	c.158C>T	c.(157-159)gCt>gTt	p.A53V	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.3_Intron|TMEM14B_uc010jos.1_Intron	NM_030969	NP_112231	Q9NUH8	TM14B_HUMAN	Homo sapiens transmembrane protein 14B (TMEM14B), transcript variant 1, mRNA.	53						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GGCCTGGGTGCTTACCAGCTG	0.532000														44			58		0	0	0.014410	0	0
ERBB2	2064	broad.mit.edu	37	17	37872083	37872083	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:37872083C>T	uc002hso.3	+	11	1642	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	ERBB2_uc010cwa.3_Silent_p.I453I|ERBB2_uc002hsm.3_Silent_p.I438I|ERBB2_uc002hsp.3_Silent_p.I271I|ERBB2_uc010cwb.3_Silent_p.I468I|ERBB2_uc010wek.2_Silent_p.I192I|ERBB2_uc002hsl.3_Silent_p.I438I	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	468					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGCCCTCATCCACCATAACA	0.642000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				43			34		0	0	0.012213	0	0
OR51B6	390058	broad.mit.edu	37	11	5373230	5373230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5373230C>T	uc010qzb.2	+	0	493	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACTGGTTTCCCTACTGTCG	0.488000														36			23		0	0	0.016522	0	0
TJP3	27134	broad.mit.edu	37	19	3738586	3738586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3738586G>A	uc010xhv.2	+	10	1417	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	TJP3_uc010xhs.2_Missense_Mutation_p.E440K|TJP3_uc010xht.2_Missense_Mutation_p.E404K|TJP3_uc010xhu.2_Missense_Mutation_p.E449K|TJP3_uc010xhw.2_Missense_Mutation_p.E459K	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	454						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGACACGGGAGGAGGCAGT	0.577000														75			41		0	0	0.013114	0	0
FSHR	2492	broad.mit.edu	37	2	49190942	49190942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:49190942C>T	uc002rww.3	-	9	1128	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	FSHR_uc010fbn.3_Missense_Mutation_p.E314K|FSHR_uc002rwx.3_Missense_Mutation_p.E278K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	340					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.E340K(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAACCACTTCATTGCATAAG	0.473000									Gonadal Dysgenesis, 46 XX					49			70		0	0	0.014410	0	0
ADCY7	113	broad.mit.edu	37	16	50325717	50325718	+	Missense_Mutation	DNP	CC	TT	TT	rs145728675		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:50325717_50325718CC>TT	uc002egd.1	+	2	714_715	c.446_447CC>TT	c.(445-447)gcc>gTT	p.A149V	ADCY7_uc002egb.1_Missense_Mutation_p.A149V|ADCY7_uc002egc.2_Missense_Mutation_p.A149V	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	149					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCGCTGTCGCCGTTGGGGCCG	0.634000														23			20		0	0	0.004672	0	0
ZNF493	284443	broad.mit.edu	37	19	21607543	21607543	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:21607543C>T	uc002npw.3	+	3	2201	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	ZNF493_uc002npx.3_Silent_p.F566F|ZNF493_uc002npy.3_Silent_p.F566F|ZNF493_uc021urq.1_Silent_p.F566F	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCAAAACTTTCTACCGATTCT	0.348000														10			11		0	0	0.010729	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368303	74368303	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:74368303G>A	uc002axa.1	-	7	629	c.588C>T	c.(586-588)gtC>gtT	p.V196V		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	196										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						ACCGCTGGAGGACCGCTTCTC	0.552000														260			57		0	0	0.014410	0	0
CCDC39	339829	broad.mit.edu	37	3	180334460	180334460	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:180334460G>A	uc010hxe.3	-	17	2545	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	810					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCAAAAGACGGATTTCCTTTG	0.299000														6			5		0	0	0.014758	0	0
MYO1B	4430	broad.mit.edu	37	2	192248063	192248063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:192248063G>A	uc010fsg.2	+	14	1603	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	MYO1B_uc002usq.2_Missense_Mutation_p.E450K|MYO1B_uc002usr.2_Missense_Mutation_p.E450K|MYO1B_uc002ust.1_Missense_Mutation_p.E88K	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	450	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGACCTAATAGAAAATGTGAG	0.313000														11			14		0	0	0.020292	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000														55			4		0	0	0.009096	0	0
TTC12	54970	broad.mit.edu	37	11	113196301	113196301	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113196301C>T	uc001pnv.3	+	5	483	c.378C>T	c.(376-378)atC>atT	p.I126I	TTC12_uc001pnu.3_Silent_p.I126I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_5'UTR	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	126							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAACAGCTATCCTGCGCTACA	0.478000														9			12		0	0	0.016723	0	0
SPATA20	64847	broad.mit.edu	37	17	48631613	48631613	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:48631613C>T	uc002ird.3	+	15	2099	c.1958_splice	c.e15-1	p.D653_splice	SPATA20_uc002irc.3_Splice_Site_p.D304_splice|SPATA20_uc002ire.3_Splice_Site_p.D593_splice|SPATA20_uc002irf.3_Splice_Site_p.D637_splice|SPATA20_uc002irg.3_Splice_Site	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	637					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTGCTGTAGACCAGGATGGAG	0.632000														36			10		0	0	0.008291	0	0
LRRC32	2615	broad.mit.edu	37	11	76371224	76371224	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:76371224C>T	uc001oxq.4	-	2	1656	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	LRRC32_uc001oxr.4_Silent_p.L471L|LRRC32_uc010rsf.2_Silent_p.L471L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	471						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AAGAAAGGTCCAGCTCAGTCA	0.647000														7			10		0	0	0.008291	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565171	20565171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20565171C>T	uc002dhj.4	-	5	878	c.668G>A	c.(667-669)gGg>gAg	p.G223E	ACSM2B_uc002dhk.4_Missense_Mutation_p.G223E|ACSM2B_uc010bwf.1_Missense_Mutation_p.G223E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACTGGTCCCACTAGTGAA	0.512000														38			42		0	0	0.010771	0	0
UIMC1	51720	broad.mit.edu	37	5	176396646	176396646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:176396646G>A	uc021yil.1	-	4	586	c.419C>T	c.(418-420)tCc>tTc	p.S140F	UIMC1_uc021yim.1_Missense_Mutation_p.S140F|UIMC1_uc021yin.1_Missense_Mutation_p.S140F|UIMC1_uc003mfd.2_Missense_Mutation_p.P16S|UIMC1_uc021yio.1_Missense_Mutation_p.S140F|UIMC1_uc003mff.1_Missense_Mutation_p.P16S	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	140	Necessary for interaction with NR6A1 N- terminus.				G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGGACTGGGAAGACGGTCC	0.502000														31			14		0	0	0.003163	0	0
TRPM4	54795	broad.mit.edu	37	19	49686035	49686035	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49686035C>T	uc002pmw.3	+	10	1572	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	TRPM4_uc010emu.3_Silent_p.A488A|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.A314A|TRPM4_uc010emv.3_Silent_p.A373A|TRPM4_uc010yal.2_Silent_p.A134A|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	488					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.K487_L498delKAPALKGGAAEL(2)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCACCAAAGCCCCAGCCCTAA	0.677000														25			18		0	0	0.006122	0	0
CSMD2	114784	broad.mit.edu	37	1	34191035	34191035	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:34191035G>A	uc001bxm.1	-	16	2787	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F	CSMD2_uc001bxn.1_Silent_p.F830F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	830	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTGATGAGGAACTGGGGAA	0.562000														19			21		0	0	0.008871	0	0
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:50592482G>A	uc002lfe.2	+	6	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_uc010xdr.1_Missense_Mutation_p.E251K|DCC_uc010dpf.2_Missense_Mutation_p.E58K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	403	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E403K(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438000														23			26		0	0	0.004656	0	0
OTUD4	54726	broad.mit.edu	37	4	146064533	146064533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:146064533G>A	uc003ika.4	-	16	1610	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	555							protein binding	p.S491F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGCAGGAGAAGGGCACTCTAA	0.353000														3			12		0	0	0.020292	0	0
VWA3B	200403	broad.mit.edu	37	2	98744805	98744805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:98744805C>T	uc002syo.3	+	5	1070	c.806C>T	c.(805-807)tCc>tTc	p.S269F	VWA3B_uc010yvh.2_Missense_Mutation_p.S119F|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.S269F|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	269										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TACACAGTGTCCTTCAACGCC	0.502000														97			26		0	0	0.021523	0	0
HEPH	9843	broad.mit.edu	37	X	65476039	65476039	+	Silent	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:65476039T>C	uc011moz.2	+	16	3062	c.2925T>C	c.(2923-2925)ttT>ttC	p.F975F	HEPH_uc004dwn.3_Silent_p.F924F|HEPH_uc004dwo.3_Silent_p.F654F|HEPH_uc010nkr.3_Silent_p.F732F|HEPH_uc011mpa.2_Silent_p.F924F|HEPH_uc010nks.3_Silent_p.F213F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	921	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCGGGAATTTGCATTGTTGT	0.493000														22			5		0	0	0.014758	0	0
CDH4	1002	broad.mit.edu	37	20	60448842	60448842	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:60448842G>A	uc002ybn.2	+	6	1024	c.936G>A	c.(934-936)ggG>ggA	p.G312G	CDH4_uc002ybr.2_Silent_p.G275G|CDH4_uc002ybp.2_Silent_p.G238G	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	312	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.N311N(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGCCAACGGGATGGTGCGGT	0.607000														66			50		0	0	0.014410	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652306	234652306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:234652306G>A	uc002vuz.3	-	0	356	c.257C>T	c.(256-258)cCc>cTc	p.P86L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	86					protein folding		heat shock protein binding|unfolded protein binding										GTACTCGAAGGGGTCCTCGAA	0.632000														61			94		0	0	0.014410	0	0
OR10J1	26476	broad.mit.edu	37	1	159409847	159409847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:159409847G>A	uc010piv.2	+	0	336	c.299G>A	c.(298-300)aGc>aAc	p.S100N	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	100					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTAGGTATGAGCCAGCCCATA	0.483000														23			30		0	0	0.007291	0	0
OR13C5	138799	broad.mit.edu	37	9	107361389	107361389	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:107361389G>A	uc011lvp.2	-	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCAAGCTGAGGAACATCTGCA	0.517000														5			47		0	0	0.014410	0	0
ACSS3	79611	broad.mit.edu	37	12	81503406	81503406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:81503406G>A	uc001szl.1	+	1	470	c.379G>A	c.(379-381)Gat>Aat	p.D127N	ACSS3_uc001szm.1_Missense_Mutation_p.D126N	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	127						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTAAAGGGGATAAGATTGC	0.328000														27			7		0	0	0.003080	0	0
PTPN9	5780	broad.mit.edu	37	15	75782617	75782618	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:75782617_75782618GG>AA	uc002bal.3	-	7	1501_1502	c.993_994CC>TT	c.(991-996)aaccgt>aaTTgt	p.R332C		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	332	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCCCATAACGGTTTTTCTCTA	0.416000														86			70		0	0	0.004672	0	0
ORC4	5000	broad.mit.edu	37	2	148716422	148716422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:148716422G>A	uc002twj.3	-	4	409	c.239C>T	c.(238-240)gCt>gTt	p.A80V	ORC4_uc021vqr.1_Missense_Mutation_p.A80V|ORC4_uc002twi.3_Missense_Mutation_p.A80V|ORC4_uc010zbo.2_Missense_Mutation_p.A6V|ORC4_uc010zbq.2_5'UTR|ORC4_uc010zbp.2_Intron|ORC4_uc002twk.3_Missense_Mutation_p.A80V|ORC4_uc010zbr.2_Missense_Mutation_p.A80V	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	80					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTCTTTCAAAGCATGATTTAT	0.264000														11			6		0	0	0.001168	0	0
ZNF445	353274	broad.mit.edu	37	3	44491012	44491012	+	Silent	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:44491012A>C	uc003cnf.2	-	6	1272	c.924T>G	c.(922-924)gcT>gcG	p.A308A	ZNF445_uc011azv.1_Silent_p.A296A|ZNF445_uc011azw.1_Silent_p.A308A	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACCTGTAGGAGCAGCAACTG	0.512000														33			30		0	0	0.010818	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038717	62038717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:62038717C>T	uc002yey.1	-	16	2076	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	KCNQ2_uc002yez.1_Missense_Mutation_p.M602I|KCNQ2_uc002yfa.1_Missense_Mutation_p.M615I|KCNQ2_uc002yfb.1_Missense_Mutation_p.M605I	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	633					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTTCTTCTCCATGGACAAGA	0.642000														35			23		0	0	0.018920	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594926	31594926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:31594926C>T	uc003nvb.4	+	10	1490	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P414L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	414	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTACCCCCACCTCACCGG	0.652000														15			7		0	0	0.003080	0	0
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:155254706C>T	uc022cip.1	+	5	806	c.602C>T	c.(601-603)aCg>aTg	p.T201M						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637000														5			3		0	0	0.004672	0	0
ZNF599	148103	broad.mit.edu	37	19	35258311	35258311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35258311G>A	uc010edn.1	-	2	539	c.151C>T	c.(151-153)Cct>Tct	p.P51S	ZNF599_uc010edm.2_Missense_Mutation_p.P14S|ZNF599_uc010xsd.2_Non-coding_Transcript|ZNF599_uc010edo.2_Non-coding_Transcript	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGGGAACAGGATGCCCTGTG	0.458000														10			18		0	0	0.007413	0	0
COL22A1	169044	broad.mit.edu	37	8	139618686	139618686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:139618686C>T	uc003yvd.3	-	57	4489	c.4042G>A	c.(4042-4044)Gga>Aga	p.G1348R	COL22A1_uc011ljo.2_Missense_Mutation_p.G628R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1348	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTTTGCTTCCTTTCTGGCCC	0.527000										HNSCC(7;0.00092)				26			7		0	0	0.003080	0	0
ERG	2078	broad.mit.edu	37	21	39755817	39755817	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:39755817G>A	uc010gnw.3	-	11	1264	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.F316F|ERG_uc011aek.2_Silent_p.F224F|ERG_uc010gnv.3_Silent_p.F200F|ERG_uc010gnx.3_Silent_p.F299F|ERG_uc011ael.2_Silent_p.F323F|ERG_uc002yxb.3_Silent_p.F299F	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	323					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCTCCAGGAGGAACTGCCAAA	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									53			29		0	0	0.006320	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884138	228884138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228884138C>T	uc002vpq.2	-	6	1479	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E478K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E478K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	478						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTGAGGTTTCAACAGAGACT	0.527000														22			38		0	0	0.019004	0	0
GRM3	2913	broad.mit.edu	37	7	86394922	86394922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:86394922C>T	uc003uid.3	+	1	1560	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GRM3_uc010lef.3_Missense_Mutation_p.S152F|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	154					synaptic transmission	integral to plasma membrane		p.S154F(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCAGTGTTTCCATACAGGTA	0.398000														4			5		0	0	0.014758	0	0
TECPR2	9895	broad.mit.edu	37	14	102894623	102894623	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:102894623G>T	uc001ylw.2	+	6	1214	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	TECPR2_uc010awl.3_Missense_Mutation_p.V330L|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	330							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CGGTGATATTGTGTCTGTTTC	0.338000														19			15		7.93312e-07	9.78067e-07	0.020292	1	0
BCL9	607	broad.mit.edu	37	1	147084686	147084686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:147084686C>T	uc001epq.3	+	4	798	c.58C>T	c.(58-60)Cct>Tct	p.P20S	BCL9_uc010ozr.1_Missense_Mutation_p.P20S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	20					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTTTAGTAGCCCTAAGTCAAA	0.483000			T	"""IGH@, IGL@"""	B-ALL									73			29		0	0	0.013726	0	0
PI16	221476	broad.mit.edu	37	6	36930953	36930953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:36930953G>A	uc021yzd.1	+	5	1058	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PI16_uc003omz.1_Intron|PI16_uc003ona.3_Missense_Mutation_p.E279K|PI16_uc011dts.1_Missense_Mutation_p.E50K	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	279						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATGGCAACAGAGGCTCCACC	0.577000														60			21		0	0	0.008871	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095603	103095603	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103095603C>T	uc002tbz.4	+	1	1019	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	188					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCCTTTGGCCTGGGCGACGT	0.627000														13			26		0	0	0.004656	0	0
TM9SF4	9777	broad.mit.edu	37	20	30733135	30733135	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:30733135C>T	uc002wxj.2	+	7	1027	c.792C>T	c.(790-792)gcC>gcT	p.A264A	TM9SF4_uc010ztr.1_Silent_p.A190A|TM9SF4_uc010zts.1_Silent_p.A171A|TM9SF4_uc002wxk.2_Silent_p.A247A	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	264						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCAAATGGGCCTCTCGCTGGG	0.532000														29			26		0	0	0.004656	0	0
RFX4	5992	broad.mit.edu	37	12	107048058	107048058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:107048058C>T	uc001tlt.3	+	3	411	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.L82F|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.L91F	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	82					transcription, DNA-dependent	nucleus	DNA binding	p.C90C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCGCAGTGCCCTCTATATGCA	0.498000														37			18		0	0	0.010504	0	0
SEC22B	9554	broad.mit.edu	37	1	145109572	145109572	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:145109572C>T	uc001eml.1	+	3	371	c.231C>T	c.(229-231)gcC>gcT	p.A77A	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	78	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										GTGAAGCTGCCTTCCCTAAGA	0.438000														469			55		0	0	0.014410	0	0
HHATL	57467	broad.mit.edu	37	3	42734363	42734363	+	Silent	SNP	G	A	A	rs17852071		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:42734363G>A	uc003clw.3	-	12	1542	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	HHATL_uc003clx.3_Silent_p.F465F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	465					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGGTCTGGGGGAACCCTGTGT	0.602000														23			46		0	0	0.014410	0	0
CD8B	926	broad.mit.edu	37	2	87085197	87085197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:87085197C>T	uc002srw.3	-	1	445	c.386G>A	c.(385-387)gGa>gAa	p.G129E	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.G129E|CD8B_uc002sry.3_Missense_Mutation_p.G129E|CD8B_uc010fgt.3_Missense_Mutation_p.G129E|CD8B_uc002srz.3_Missense_Mutation_p.G129E|CD8B_uc010yto.2_Missense_Mutation_p.G129E	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	129	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTGAGTTCCCTTCCCGAA	0.572000														158			9		0	0	0.016723	0	0
XAF1	54739	broad.mit.edu	37	17	6674014	6674014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:6674014C>T	uc002gdn.3	+	5	802	c.560C>T	c.(559-561)cCa>cTa	p.P187L	XAF1_uc002gdm.1_Missense_Mutation_p.P127L|XAF1_uc002gdo.3_Missense_Mutation_p.P168L|XAF1_uc002gdp.3_Missense_Mutation_p.P136L|XAF1_uc002gdq.3_Missense_Mutation_p.P19L|XAF1_uc002gdr.3_Missense_Mutation_p.P117L	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	187					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GTTGGAAATCCAGAAATTCTT	0.343000														45			24		0	0	0.004656	0	0
RALBP1	10928	broad.mit.edu	37	18	9516990	9516990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:9516990C>T	uc002kob.3	+	2	615	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RALBP1_uc002koc.3_Missense_Mutation_p.P131L	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	131					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						aaagagaaacccaaagaagaa	0.343000														12			15		0	0	0.020292	0	0
BCAR3	8412	broad.mit.edu	37	1	94057828	94057828	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:94057828G>A	uc001dpz.3	-	3	755	c.480C>T	c.(478-480)ccC>ccT	p.P160P	BCAR3_uc001dqa.3_Silent_p.P160P|BCAR3_uc001dqb.3_Silent_p.P160P|BCAR3_uc001dpy.3_Silent_p.P69P|LOC100129046_uc009wdn.3_Non-coding_Transcript	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	160	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTACCTGTCGGGGGATGCGGC	0.622000														25			40		0	0	0.014410	0	0
LENG8	114823	broad.mit.edu	37	19	54968019	54968019	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:54968019C>T	uc002qfv.1	+	9	1683	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	LENG8_uc002qfw.2_Silent_p.I550I			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	513							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTGCAGATCGTGGGCACCT	0.682000														7			11		0	0	0.008291	0	0
EPHA3	2042	broad.mit.edu	37	3	89259185	89259185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:89259185C>T	uc003dqy.3	+	2	554	c.329C>T	c.(328-330)cCa>cTa	p.P110L	EPHA3_uc003dqx.1_Missense_Mutation_p.P110L|EPHA3_uc021xbf.1_Missense_Mutation_p.P110L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	110						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AATAGCATTCCATTGGTTTTA	0.423000										TSP Lung(6;0.00050)				36			23		0	0	0.018920	0	0
PLIN4	729359	broad.mit.edu	37	19	4511782	4511782	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4511782C>T	uc002mar.1	-	2	2148	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	716	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGACGGTGTCCTTGGTACCAG	0.577000														197			33		0	0	0.014410	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388051	41388051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41388051G>A	uc002opm.3	-	0	607	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CYP2A7_uc002opo.3_Intron|CYP2A7_uc002opn.3_Missense_Mutation_p.S22F	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	22						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGCCAGACAGACATCAAGAC	0.582000														32			41		0	0	0.011902	0	0
AMPD3	272	broad.mit.edu	37	11	10500130	10500130	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:10500130G>A	uc001min.1	+	2	651	c.306G>A	c.(304-306)caG>caA	p.Q102Q	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Silent_p.Q93Q|AMPD3_uc001mio.1_Silent_p.Q93Q|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.Q100Q|AMPD3_uc009yfy.2_Silent_p.Q93Q	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	93					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCCGCCACAGCAAGATTGGA	0.567000														122			69		0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	121994790	121994790	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121994790C>T	uc003eew.4	+	4	1947	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	CASR_uc003eev.4_Silent_p.I503I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	503					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATGGCTCCATCGTGTTTAAGG	0.507000														77			24		0	0	0.009535	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319624	21319624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:21319624G>A	uc021tss.1	+	2	1340	c.970G>A	c.(970-972)Ggt>Agt	p.G324S	KCNJ18_uc002gyv.1_Missense_Mutation_p.G324S|KCNJ18_uc021tst.1_Missense_Mutation_p.G324S	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	324						integral to membrane	inward rectifier potassium channel activity										GATCCTGTGGGGTCACCGCTT	0.587000														216			52		0	0	0.014410	0	0
YLPM1	56252	broad.mit.edu	37	14	75265067	75265067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:75265067C>T	uc001xqj.4	+	4	3191	c.3067C>T	c.(3067-3069)Cct>Tct	p.P1023S	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	828	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTACAGAGGTCCTGGGCAAAG	0.483000														52			27		0	0	0.005443	0	0
CCDC40	55036	broad.mit.edu	37	17	78055760	78055760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:78055760C>T	uc010dht.3	+	11	1923	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	CCDC40_uc021uem.1_Missense_Mutation_p.A631V|CCDC40_uc002jxm.4_Missense_Mutation_p.A414V|CCDC40_uc002jxn.4_Missense_Mutation_p.A27V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	631					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACGGATGCTGCCATCCGGGAG	0.557000														19			15		0	0	0.020292	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55333022	55333022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55333022C>T	uc002qhl.4	+	4	721	c.658C>T	c.(658-660)Cca>Tca	p.P220S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.P220S|KIR3DL2_uc010esf.3_Missense_Mutation_p.P125S|KIR3DL2_uc021vbo.1_Missense_Mutation_p.P220S|KIR3DL2_uc002qhk.4_Missense_Mutation_p.P220S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	220					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCCAGGTCCATATGAGAA	0.547000														47			88		0	0	0.014410	0	0
PDZD2	23037	broad.mit.edu	37	5	32090902	32090902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:32090902G>A	uc003jhl.3	+	19	7736	c.7348G>A	c.(7348-7350)Gga>Aga	p.G2450R	PDZD2_uc003jhm.3_Missense_Mutation_p.G2450R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2450					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGTCCTTTGGGAATTCCCAC	0.557000														54			42		0	0	0.011902	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521712	70521712	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:70521712A>G	uc004dzr.1	+	0	85	c.56A>G	c.(55-57)aAc>aGc	p.N19S	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	19	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding	p.N19Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CCTAATACCAACCTTCCTGGT	0.522000														40			13		0	0	0.016723	0	0
ASH2L	9070	broad.mit.edu	37	8	37971719	37971719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:37971719C>T	uc003xkt.4	+	5	653	c.595C>T	c.(595-597)Cca>Tca	p.P199S	ASH2L_uc011lbk.2_Missense_Mutation_p.P60S|ASH2L_uc003xku.4_Missense_Mutation_p.P105S|ASH2L_uc010lwa.3_Missense_Mutation_p.P105S	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	199					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGATATTATACCATTTATTGA	0.313000														20			11		0	0	0.013537	0	0
SMPD3	55512	broad.mit.edu	37	16	68405629	68405629	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:68405629C>T	uc002ewa.3	-	2	878	c.456G>A	c.(454-456)aaG>aaA	p.K152K	SMPD3_uc010cfe.3_Silent_p.K152K|SMPD3_uc010vlh.2_Silent_p.K152K	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	152					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCCCGATCTCCTTGGCCCGCG	0.592000														21			16		0	0	0.004990	0	0
BUD13	84811	broad.mit.edu	37	11	116633461	116633462	+	Silent	DNP	GG	AC	AC			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:116633461_116633462GG>AC	uc001ppn.3	-	3	877_878	c.843_844CC>GT	c.(841-846)tccctg>tcGTtg	p.281_282SL>SL	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Silent_p.281_282SL>SL	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	281										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTTCTGGGCAGGGAATAAGTGA	0.510000														217			136		0	0	0.004672	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:7510023G>A	uc010sge.2	-	18	4395	c.4369C>T	c.(4369-4371)Cct>Tct	p.P1457S	CD163L1_uc001qsy.3_Missense_Mutation_p.P1447S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000														26			10		0	0	0.016723	0	0
UBN2	254048	broad.mit.edu	37	7	138967769	138967769	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:138967769G>A	uc011kqr.2	+	15	2119	c.2119_splice	c.e15-1	p.E707_splice		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	707										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTTACATTAGGAGTGTAGTC	0.373000														16			22		0	0	0.010504	0	0
MTMR3	8897	broad.mit.edu	37	22	30415992	30415992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:30415992C>T	uc003agv.4	+	16	2672	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	MTMR3_uc003agu.4_Missense_Mutation_p.P782S|MTMR3_uc003agw.4_Missense_Mutation_p.P782S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	782					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCCAGGTCCCCCCCAGGGG	0.547000														76			44		0	0	0.014410	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747489	79747489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:79747489C>T	uc003kgr.4	+	10	3870	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	ZFYVE16_uc003kgp.3_Missense_Mutation_p.P1190S|ZFYVE16_uc003kgq.4_Missense_Mutation_p.P1190S|ZFYVE16_uc003kgs.4_Missense_Mutation_p.P1190S|ZFYVE16_uc003kgt.4_Missense_Mutation_p.P278S|ZFYVE16_uc003kgu.4_5'Flank	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1190					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAGGTTTTTCCTATGCGTTT	0.323000														34			24		0	0	0.009535	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755085	140755085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140755085C>T	uc003ljy.2	+	0	1435	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P479S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S479L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTGGACCCTGACGTGGA	0.582000														81			45		0	0	0.011902	0	0
FYCO1	79443	broad.mit.edu	37	3	46008746	46008746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:46008746G>A	uc011bal.1	-	6	2192	c.2080C>T	c.(2080-2082)Cag>Tag	p.Q694*	FYCO1_uc003cpb.4_Nonsense_Mutation_p.Q694*	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	694					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTGCCATCTGGGCTTTCATG	0.637000														63			73		0	0	0.014410	0	0
ACSF2	80221	broad.mit.edu	37	17	48551615	48551615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:48551615C>T	uc010wmm.1	+	15	1963	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	ACSF2_uc002iqu.2_Missense_Mutation_p.T595I|ACSF2_uc010wml.1_Missense_Mutation_p.T552I|ACSF2_uc010wmn.1_Missense_Mutation_p.T582I|ACSF2_uc010wmo.1_Missense_Mutation_p.T435I|ACSF2_uc010dbt.1_Missense_Mutation_p.T99I	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	595					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)			TACCCCCTCACCATTTCAGGA	0.572000														84			81		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188683	140188683	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140188683G>A	uc003lhi.2	+	0	2012	c.1911G>A	c.(1909-1911)ctG>ctA	p.L637L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.L637L|PCDHAC2_uc011daa.2_Silent_p.L637L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	648	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGTGCCCTGGACGAAACGG	0.682000														44			22		0	0	0.016522	0	0
IKBIP	121457	broad.mit.edu	37	12	99007571	99007571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:99007571G>A	uc001tfv.3	-	2	955	c.845C>T	c.(844-846)cCa>cTa	p.P282L	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	282					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATACACCTTTGGTTTTAGATC	0.363000														40			45		0	0	0.011902	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281750	103281750	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103281750C>T	uc002tca.3	+	2	1087	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	315						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTTTGTTTTCCTGTACAGTT	0.438000														90			22		0	0	0.012319	0	0
MET	4233	broad.mit.edu	37	7	116411995	116411995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:116411995G>A	uc003vij.3	+	13	3167	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	MET_uc010lkh.3_Missense_Mutation_p.E1012K|MET_uc011knj.2_Missense_Mutation_p.E564K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	994					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(9)|p.L982_D1028del(6)|p.D981_D1028del(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCAACTACAGAAATGGTTTC	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					23			26		0	0	0.008361	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543063	+	Missense_Mutation	DNP	AA	GC	GC	rs45469106		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:14543062_14543063AA>GC	uc010dln.3	-	0	537_538	c.83_84TT>GC	c.(82-84)ttt>tGC	p.F28C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGCC	0.550000														172			9		0	0	0.004672	0	0
C5orf20	140947	broad.mit.edu	37	5	134782503	134782503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:134782503G>A	uc003lav.3	-	0	536	c.296C>T	c.(295-297)tCg>tTg	p.S99L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	99						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTTCACTCGAAAGATTGGA	0.592000														36			21		0	0	0.010504	0	0
NCOA1	8648	broad.mit.edu	37	2	24888752	24888752	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:24888752A>T	uc002rfk.3	+	3	483	c.224A>T	c.(223-225)gAt>gTt	p.D75V	NCOA1_uc010eye.3_Missense_Mutation_p.D75V|NCOA1_uc002rfi.3_Intron|NCOA1_uc002rfj.3_Missense_Mutation_p.D75V|NCOA1_uc002rfl.3_Missense_Mutation_p.D75V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	75	Helix-loop-helix motif.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAACAGTCGATCAGATACAG	0.333000			T	PAX3	alveolar rhadomyosarcoma									83			17		0	0	0.004007	0	0
SCYL3	57147	broad.mit.edu	37	1	169857932	169857932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169857932G>A	uc001ggs.2	-	1	248	c.50C>T	c.(49-51)cCa>cTa	p.P17L	SCYL3_uc001ggt.2_Missense_Mutation_p.P17L	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	17	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGGTAAATGGTGGTTCTCT	0.438000														63			35		0	0	0.005524	0	0
CD8A	925	broad.mit.edu	37	2	87015656	87015656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:87015656G>A	uc002srt.3	-	4	1542	c.653C>T	c.(652-654)cCc>cTc	p.P218L	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Missense_Mutation_p.P218L|CD8A_uc010ytn.2_Missense_Mutation_p.P259L|CD8A_uc002sru.3_Missense_Mutation_p.P181L	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	218					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACTCACCGGGGACATTTGCA	0.502000														16			22		0	0	0.014323	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626432	140626432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140626432C>T	uc003lje.3	+	0	1286	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P429K(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGGGACTCCAAGGCTGAAA	0.557000														48			28		0	0	0.007291	0	0
MUSK	4593	broad.mit.edu	37	9	113563251	113563251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:113563251G>A	uc022blv.1	+	14	2727	c.2593G>A	c.(2593-2595)Gga>Aga	p.G865R	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.G776R|MUSK_uc022blu.1_Missense_Mutation_p.G766R	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	865					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGGGCAGAGGGAACTGTGAG	0.498000														1			15		0	0	0.004007	0	0
PIGV	55650	broad.mit.edu	37	1	27121283	27121283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:27121283C>T	uc001bmz.3	+	2	1121	c.758C>T	c.(757-759)gCc>gTc	p.A253V	PIGV_uc001bna.3_Missense_Mutation_p.A253V|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	253					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTTCCCTTTGCCCTCTTTCAG	0.512000														80			81		0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108264095	108264095	+	Silent	SNP	A	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:108264095A>T	uc003ymn.3	-	8	1953	c.1485T>A	c.(1483-1485)ccT>ccA	p.P495P	ANGPT1_uc011lhv.2_Silent_p.P295P|ANGPT1_uc003ymo.3_Silent_p.P494P	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	495	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.R494Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAAAATCTAAAGGTCGAATCA	0.418000														40			29		0	0	0.008361	0	0
OR11H12	440153	broad.mit.edu	37	14	19378112	19378112	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:19378112C>T	uc010tkp.2	+	0	519	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTTCCTGATCCCCATTGTTC	0.483000														208			10		0	0	0.013726	0	0
FKBP6	8468	broad.mit.edu	37	7	72756871	72756871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:72756871G>A	uc003tya.2	+	7	1090	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FKBP6_uc003twz.2_Missense_Mutation_p.D290N|FKBP6_uc011kew.1_Missense_Mutation_p.D315N	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	320					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCCTGTGGCGATGGTTCTAC	0.537000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			51		0	0	0.014410	0	0
TTYH2	94015	broad.mit.edu	37	17	72246427	72246427	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:72246427C>T	uc002jkc.3	+	9	1078	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	TTYH2_uc010wqw.2_Silent_p.L328L|TTYH2_uc002jkd.3_Silent_p.L28L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	349						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAATCCAGCTCCTGCTGAACT	0.627000														15			17		0	0	0.007413	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171001	92171001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:92171001C>T	uc001xzs.1	-	6	651	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	171					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTACTGATTTCACTTTCTGGA	0.413000														44			27		0	0	0.005443	0	0
FCRL1	115350	broad.mit.edu	37	1	157771924	157771924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:157771924C>T	uc001frg.3	-	4	780	c.667G>A	c.(667-669)Gat>Aat	p.D223N	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.D223N|FCRL1_uc001fri.3_Missense_Mutation_p.D223N|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCAGCACATCCTCCACTGCA	0.592000														54			26		0	0	0.004656	0	0
NUP210L	91181	broad.mit.edu	37	1	154067456	154067456	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:154067456C>T	uc001fdw.3	-	14	2214	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.Q714Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	714						integral to membrane		p.Q714K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTACTGGTTCTGTTTTCTCT	0.403000														27			44		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38936385	38936385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:38936385C>T	uc021wvy.1	-	14	2673	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	825					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGGCCTCTCCTTCTAAGTT	0.463000														20			9		0	0	0.006214	0	0
MST1P2	11209	broad.mit.edu	37	1	16974592	16974592	+	RNA	SNP	C	T	T	rs71253919	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:16974592C>T	uc010och.2	+	6		c.1052C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGCCGGAACCCCGACGGCTCA	0.667000														79			8		0	0	0.004482	0	0
RRP1B	23076	broad.mit.edu	37	21	45094999	45094999	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:45094999C>T	uc002zdk.3	+	5	618	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	168					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GATTCCACTTCATTGATATTT	0.537000														110			70		0	0	0.014410	0	0
OR51B6	390058	broad.mit.edu	37	11	5373196	5373196	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5373196C>T	uc010qzb.2	+	0	459	c.459C>T	c.(457-459)tcC>tcT	p.S153S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTCTGTCCATTATGCCAA	0.478000														36			19		0	0	0.008871	0	0
ZNF48	197407	broad.mit.edu	37	16	30410178	30410178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:30410178C>T	uc002dya.2	+	1	1983	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	ZNF48_uc021tgi.1_Missense_Mutation_p.P536L|ZNF48_uc021tgj.1_Missense_Mutation_p.P413L|ZNF48_uc021tgk.1_Missense_Mutation_p.P536L	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	536	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGGGCCCAGCCTTCTGGACCC	0.657000														64			44		0	0	0.014410	0	0
CCDC106	29903	broad.mit.edu	37	19	56160619	56160619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:56160619C>T	uc002qlr.3	+	2	815	c.80C>T	c.(79-81)cCc>cTc	p.P27L	CCDC106_uc021vcc.1_Missense_Mutation_p.P27L|CCDC106_uc021vcd.1_Missense_Mutation_p.P27L|CCDC106_uc002qls.3_Missense_Mutation_p.P27L	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	27						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GATGAGGCACCCCACCTAGAC	0.597000														58			56		0	0	0.014410	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094905	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:139094904_139094905CC>TT	uc003qie.3	+	0	248_249	c.93_94CC>TT	c.(91-96)ttccgt>ttTTgt	p.R32C	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAAC	0.639000														82			47		0	0	0.004672	0	0
TRIM4	89122	broad.mit.edu	37	7	99489935	99489935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:99489935G>A	uc003usd.3	-	6	1553	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	TRIM4_uc003use.3_Missense_Mutation_p.R426C|TRIM4_uc011kjc.2_Missense_Mutation_p.R282C	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	452	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CCAGTCCCACGATCCAGGTAA	0.547000														138			107		0	0	0.014410	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515348	233515349	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233515348_233515349CC>AT	uc001hvt.4	+	8	2857_2858	c.2596_2597CC>AT	c.(2596-2598)ccg>ATg	p.P866M	KIAA1804_uc001hvu.4_Missense_Mutation_p.P312M	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	866					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAGAAACTTGCCGTCTTCCTTC	0.495000														80			21		0	0	0.004672	0	0
SYNE1	23345	broad.mit.edu	37	6	152804288	152804288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152804288C>T	uc021zhb.1	-	11	1505	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	SYNE1_uc003qot.4_Missense_Mutation_p.E435K|SYNE1_uc003qou.4_Missense_Mutation_p.E428K|SYNE1_uc010kjb.1_Missense_Mutation_p.E411K|SYNE1_uc003qpa.1_Missense_Mutation_p.E428K|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	428					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGGTTATTTCCTCTCTCAGG	0.473000										HNSCC(10;0.0054)				112			50		0	0	0.014410	0	0
CD3E	916	broad.mit.edu	37	11	118183553	118183553	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118183553G>A	uc001psq.4	+	5	580	c.324G>A	c.(322-324)gcG>gcA	p.A108A	CD3E_uc010rya.2_Silent_p.A108A	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	108	Ig-like.				G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity	p.A108A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGAAGATGCGAACTTTTATC	0.468000														19			25		0	0	0.007291	0	0
MYPN	84665	broad.mit.edu	37	10	69882036	69882036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:69882036C>T	uc001jnm.4	+	2	1026	c.841C>T	c.(841-843)Cca>Tca	p.P281S	MYPN_uc001jnl.1_Missense_Mutation_p.P281S|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.P281S|MYPN_uc001jnp.1_Missense_Mutation_p.P281S|MYPN_uc009xps.3_Missense_Mutation_p.P281S|MYPN_uc009xpt.3_Missense_Mutation_p.P281S|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	281	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGAGAAGTTCCAGAAGGAAC	0.468000														7			38		0	0	0.021022	0	0
NXPH2	11249	broad.mit.edu	37	2	139428555	139428555	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:139428555G>A	uc002tvi.3	-	1	732	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	244	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCTTTTGCACGAGTTTATAAT	0.448000														13			30		0	0	0.012213	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833481	125833481	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:125833481C>T	uc003eim.1	-	17	2191	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.V566V|ALDH1L1_uc003ein.1_Silent_p.V202V	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	667	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACACCTTCTTCACGTTACTTA	0.622000														109			33		0	0	0.021022	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536431	90536431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:90536431G>A	uc010mqi.3	+	3	1638	c.1609G>A	c.(1609-1611)Ggc>Agc	p.G537S	FAM75C1_uc004apq.4_Missense_Mutation_p.G520S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCTATCCAGGGGCATGGAAAG	0.542000														13			54		0	0	0.014410	0	0
MED1	5469	broad.mit.edu	37	17	37565510	37565510	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:37565510T>G	uc002hrv.4	-	16	3176	c.2964A>C	c.(2962-2964)ttA>ttC	p.L988F	MED1_uc010wee.2_Missense_Mutation_p.L816F|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	988	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTTTGCTGTCTAATCCGGGCC	0.502000										HNSCC(31;0.082)				50			34		0	0	0.013726	0	0
VRTN	55237	broad.mit.edu	37	14	74825031	74825031	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:74825031C>T	uc021rwl.1	+	0	1545	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	VRTN_uc001xpw.4_Silent_p.A515A	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	515					transposition, DNA-mediated		DNA binding|transposase activity	p.A515V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGGGCTGCCCGCAGGCAGG	0.667000														71			62		0	0	0.014410	0	0
LOC100131496	100131496	broad.mit.edu	37	20	45947811	45947811	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:45947811G>A	uc010zyb.2	+	0	566	c.447G>A	c.(445-447)ggG>ggA	p.G149G	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron					Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA.																		CTCTCCCAGGGGGAGGAGGAA	0.597000														9			4		0	0	0.009096	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028656	38028656	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:38028656C>T	uc002hte.3	+	4	693	c.540C>T	c.(538-540)tgC>tgT	p.C180C	ZPBP2_uc002htf.3_Silent_p.C158C	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	180					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTGTCATGCCATGTCATAG	0.338000														36			27		0	0	0.004656	0	0
OR51V1	283111	broad.mit.edu	37	11	5221910	5221910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5221910C>T	uc010qyz.2	-	0	21	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6I(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAAGTAATCATTCTGGAAC	0.383000														20			13		0	0	0.013537	0	0
AR	367	broad.mit.edu	37	X	66765996	66765996	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:66765996C>T	uc004dwu.2	+	0	2123	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	AR_uc011mpd.2_Silent_p.S336S|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.S336S|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Silent_p.S336S	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	334	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGGGAGCTCCGGGACACTTG	0.572000									Androgen Insensitivity Syndrome					26			21		0	0	0.010504	0	0
U2AF2	11338	broad.mit.edu	37	19	56171554	56171554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:56171554C>T	uc002qlu.3	+	2	1252	c.197C>T	c.(196-198)aCc>aTc	p.T66I	U2AF2_uc002qlt.3_Missense_Mutation_p.T66I	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	66					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AAACCTTTGACCAGAGGCGCT	0.627000														25			7		0	0	0.006214	0	0
DKK4	27121	broad.mit.edu	37	8	42231804	42231804	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:42231804C>T	uc003xpb.3	-	3	600	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	163	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TACAAATTTTCGTCCAAAAAT	0.478000														57			42		0	0	0.010771	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														261			58		0	0	0.014410	0	0
COPS7A	50813	broad.mit.edu	37	12	6840169	6840169	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:6840169C>T	uc001qqj.3	+	7	1031	c.792C>T	c.(790-792)ctC>ctT	p.L264L	COPS7A_uc001qqh.3_Silent_p.L264L|COPS7A_uc001qqi.3_Silent_p.L264L|COPS7A_uc001qqn.4_Silent_p.L264L	NM_001164094	NP_057403	Q9UBW8	CSN7A_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) (COPS7A), transcript variant 2, mRNA.	264					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCCAGGCTCCGAGGGAGCG	0.567000														29			12		0	0	0.013537	0	0
ZNF610	162963	broad.mit.edu	37	19	52856990	52856990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:52856990C>T	uc002pyx.4	+	3	525	c.119C>T	c.(118-120)tCc>tTc	p.S40F	ZNF610_uc002pyy.4_Missense_Mutation_p.S40F|ZNF610_uc002pyz.4_Missense_Mutation_p.S40F|ZNF610_uc002pza.3_Missense_Mutation_p.S40F	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAGTGGAAATCCCTGGACCCT	0.488000														86			25		0	0	0.004656	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712548	1712548	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:1712548A>G	uc010uvh.2	+	10	2471	c.2471A>G	c.(2470-2472)aAt>aGt	p.N824S	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	824						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ACAGGAAGCAATGACTCAGAT	0.542000														116			39		0	0	0.006999	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890307	24890307	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:24890307G>A	uc001upj.3	+	2	227	c.166_splice	c.e2+1	p.G56_splice	SPATA13_uc001upe.3_Splice_Site	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	56	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AGGCGATGCAGGTACTCACCT	0.542000														30			4		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740932	140740932	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140740932G>A	uc003ljs.2	+	0	1230	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.L410L|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	412	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCGCTCTGGACCGGGAGG	0.498000														52			30		0	0	0.012213	0	0
KSR2	283455	broad.mit.edu	37	12	118105303	118105303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:118105303G>A	uc001two.2	-	4	1115	c.1060C>T	c.(1060-1062)Cac>Tac	p.H354Y		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	383					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTCAGTGTGAACAGGAGGG	0.622000														12			4		0	0	0.009096	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219855	54219855	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:54219855C>T	uc021vag.1	+	0		c.8C>T								Homo sapiens microRNA 521-2 (MIR521-2), microRNA.																		AGGTCTCGGGCTGTGACTCTC	0.423000														102			32		0	0	0.015359	0	0
FAM5B	57795	broad.mit.edu	37	1	177250226	177250226	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:177250226C>T	uc001glf.3	+	7	2226	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	FAM5B_uc001glg.3_Silent_p.F533F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	638						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGAAGACTTTCTTTGAGACAG	0.498000														55			28		0	0	0.006320	0	0
MYOCD	93649	broad.mit.edu	37	17	12626229	12626229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:12626229G>A	uc002gno.2	+	4	618	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_uc002gnn.2_Missense_Mutation_p.D107N|MYOCD_uc002gnp.1_Missense_Mutation_p.D11N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	107					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTCGCCGATGATCTCAATGA	0.458000														114			71		0	0	0.014410	0	0
ADRM1	11047	broad.mit.edu	37	20	60881373	60881373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:60881373G>A	uc002ycn.3	+	3	531	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	ADRM1_uc011aai.1_Missense_Mutation_p.G151S|ADRM1_uc002yco.3_Missense_Mutation_p.G151S|ADRM1_uc002ycp.1_Non-coding_Transcript	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	151	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCTGCGCTAGGCGGTAACTG	0.602000														46			44		0	0	0.014410	0	0
HEATR8	374977	broad.mit.edu	37	1	55136510	55136510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:55136510G>A	uc010ooe.1	+	6	1831	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.E71K|HEATR8_uc010ood.1_Missense_Mutation_p.E21K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E503K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	503						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGAGGTCGGAGCTGGTGAA	0.622000														20			8		0	0	0.006214	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570183	61570183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:61570183G>A	uc010xeu.2	+	8	1225	c.892G>A	c.(892-894)Gac>Aac	p.D298N	SERPINB2_uc002ljo.3_Missense_Mutation_p.D298N|SERPINB2_uc002ljp.1_Missense_Mutation_p.D103N|SERPINB2_uc002ljq.1_Missense_Mutation_p.D103N	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	298					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACCAGCAAAGACAAAATGGC	0.378000														9			12		0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82784603	82784603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82784603G>A	uc003uhx.2	-	1	1643	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Q452*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	403	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGCCTGTTGAGCTGGAATC	0.582000														64			52		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	40713470	40713470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:40713470G>A	uc002xkg.3	-	28	4172	c.3988C>T	c.(3988-3990)Cgt>Tgt	p.R1330C	PTPRT_uc010ggj.3_Missense_Mutation_p.R1349C|PTPRT_uc010ggi.3_Missense_Mutation_p.R533C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1330	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGACTATACGATAACCATCC	0.587000														27			15		0	0	0.006122	0	0
CCNF	899	broad.mit.edu	37	16	2489771	2489771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2489771C>T	uc002cqd.1	+	7	809	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	241					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGGGCGATGCCTCCACAGCTT	0.592000														28			22		0	0	0.005443	0	0
DL492607	0	broad.mit.edu	37	11	113661321	113661321	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113661321C>T	uc001pof.1	+	0		c.1369C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TGAAGGAGTTCGTCTTTGATG	0.493000														22			31		0	0	0.010818	0	0
THRB	7068	broad.mit.edu	37	3	24231811	24231811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:24231811C>T	uc003ccz.4	-	5	557	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	THRB_uc010hfe.3_Missense_Mutation_p.A13T|THRB_uc003ccy.4_Missense_Mutation_p.A13T|THRB_uc003ccx.4_Missense_Mutation_p.A13T|THRB_uc003cdc.3_Missense_Mutation_p.A8T|THRB_uc003cdd.3_Missense_Mutation_p.A8T|THRB_uc003cde.1_Missense_Mutation_p.A8T|THRB_uc021wuc.1_Missense_Mutation_p.A8T	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	13	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGTCCCAGGCTGTAAGGCCA	0.478000														36			20		0	0	0.010504	0	0
CYTIP	9595	broad.mit.edu	37	2	158287156	158287156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:158287156G>A	uc002tzj.1	-	4	463	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	CYTIP_uc010zcl.1_Missense_Mutation_p.L25F	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	131	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATATTTGCAAGGACATCACCT	0.408000														30			50		0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92085931	92085931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:92085931G>A	uc001pdj.4	+	0	670	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	218	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTAAGTGGTCGATTAAATTAT	0.393000										TCGA Ovarian(4;0.039)				128			100		0	0	0.014410	0	0
MATN4	8785	broad.mit.edu	37	20	43933105	43933105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:43933105C>T	uc002xnn.2	-	2	593	c.406G>A	c.(406-408)Gag>Aag	p.E136K	MATN4_uc002xnp.2_Missense_Mutation_p.E136K|MATN4_uc002xno.2_Missense_Mutation_p.E136K|MATN4_uc010zwr.1_Missense_Mutation_p.E84K|MATN4_uc002xnr.1_Missense_Mutation_p.E136K|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	136	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCACGCGCTCCTCTGGCGGT	0.692000														8			9		0	0	0.006214	0	0
LUZP2	338645	broad.mit.edu	37	11	24927567	24927567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:24927567G>A	uc001mqs.3	+	5	701	c.427G>A	c.(427-429)Gga>Aga	p.G143R	LUZP2_uc009yif.3_Missense_Mutation_p.G57R|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	143						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACTCTTGTCAGGAAACAAGCT	0.323000														17			8		0	0	0.010729	0	0
C11orf53	341032	broad.mit.edu	37	11	111156656	111156656	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:111156656C>T	uc001plc.3	+	3	735	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	196										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCTACCGCCCAAGGTGGGGC	0.592000														47			35		0	0	0.013726	0	0
DUSP27	92235	broad.mit.edu	37	1	167095156	167095156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:167095156C>T	uc001geb.1	+	4	804	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	263					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.P263H(2)|p.P263T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCATCTACCCCAATGAGGGC	0.582000														45			44		0	0	0.014410	0	0
CLASP2	23122	broad.mit.edu	37	3	33585027	33585027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:33585027G>A	uc021wvc.1	-	31	3537	c.3326C>T	c.(3325-3327)tCc>tTc	p.S1109F	CLASP2_uc003cfs.3_Missense_Mutation_p.S308F|CLASP2_uc021wva.1_Missense_Mutation_p.S183F|CLASP2_uc021wvb.1_Missense_Mutation_p.S888F|CLASP2_uc011axt.1_Missense_Mutation_p.S701F	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1110										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACTCCCCATGGAACTCTGATG	0.393000														25			27		0	0	0.004656	0	0
MCM4	4173	broad.mit.edu	37	8	48874103	48874104	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:48874103_48874104CC>TT	uc003xqk.2	+	2	924_925	c.98_99CC>TT	c.(97-99)ccc>cTT	p.P33L	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.P33L|MCM4_uc011ldi.2_Missense_Mutation_p.P33L|MCM4_uc010lxw.2_Non-coding_Transcript	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	33					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.S32C(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGTCATCTCCCTCTCAGAGAC	0.574000														38			34		0	0	0.004672	0	0
RCVRN	5957	broad.mit.edu	37	17	9804366	9804366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:9804366C>T	uc002gme.1	-	1	620	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	145					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCGTGTTTTCATCGTCTGGA	0.433000														65			39		0	0	0.007835	0	0
KIAA0100	9703	broad.mit.edu	37	17	26947001	26947001	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:26947001G>A	uc002hbu.3	-	29	5500	c.5397C>T	c.(5395-5397)ttC>ttT	p.F1799F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1799						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTCAAGCTGGAACCTGACCC	0.453000														39			38		0	0	0.005524	0	0
IGFL2	147920	broad.mit.edu	37	19	46663936	46663936	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46663936C>G	uc002peb.3	+	3	463	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	IGFL2_uc010xxv.2_Missense_Mutation_p.P47A	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	47						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GATCTACAACCCCTTGGAGCA	0.597000														125			143		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	22	22663071	22663071	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:22663071C>T	uc021wml.1	+	30		c.2429C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCCTGATTTTCGGATAGCTGC	0.303000														57			38		0	0	0.013114	0	0
LPIN2	9663	broad.mit.edu	37	18	2931297	2931297	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:2931297G>A	uc002klo.3	-	8	1652	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	471					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGCAAAGGGAGAGGGTAACGT	0.542000														55			11		0	0	0.020292	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647657	79647657	+	RNA	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:79647657C>T	uc010jaj.1	-	0		c.129G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CTCCTTGTTCCGCATCCCATC	0.587000														34			19		0	0	0.014323	0	0
PPIL1	51645	broad.mit.edu	37	6	36823648	36823648	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:36823648T>C	uc003omu.2	-	3	694	c.442A>G	c.(442-444)Aac>Gac	p.N148D		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	148	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						TCCTGGGAGTTTGTTTCTACC	0.557000														53			66		0	0	0.014410	0	0
EFCAB6	64800	broad.mit.edu	37	22	44074029	44074029	+	Silent	SNP	C	T	T	rs146730740		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:44074029C>T	uc003bdy.2	-	12	1580	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	EFCAB6_uc003bdz.2_Silent_p.P270P|EFCAB6_uc010gzi.2_Silent_p.P270P|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.R243Q	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	422	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.P422P(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCTTGTTATCGGTCCATCGG	0.328000														34			20		0	0	0.016522	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179592993C>T	uc021vsy.1	-	63	16051	c.15826G>A	c.(15826-15828)Gaa>Aaa	p.E5276K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1937K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6203	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGATATTTCTTTTCCATCC	0.378000														18			6		0	0	0.001984	0	0
SAMD12	401474	broad.mit.edu	37	8	119391886	119391887	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:119391886_119391887GG>AA	uc003yom.2	-	3	504_505	c.375_376CC>TT	c.(373-378)gcccag>gcTTag	p.Q126*	SAMD12_uc010mda.1_Nonsense_Mutation_p.Q126*|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	126	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGGTTCTCCTGGGCAATCCCCA	0.480000														23			21		0	0	0.004672	0	0
OR13C9	286362	broad.mit.edu	37	9	107380476	107380476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:107380476C>T	uc011lvr.2	-	0	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GTTTGGTTTTCCCATTCCATT	0.308000														0			22		0	0	0.016522	0	0
TECTB	6975	broad.mit.edu	37	10	114059256	114059256	+	Missense_Mutation	SNP	G	A	A	rs142157041		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:114059256G>A	uc001kzr.1	+	7	841	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	281	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCAGACCTGCGATAAACGGAA	0.532000														6			36		0	0	0.010771	0	0
ART5	116969	broad.mit.edu	37	11	3661290	3661290	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:3661290G>A	uc001lyb.1	-	1	762	c.369C>T	c.(367-369)ctC>ctT	p.L123L	ART5_uc001lyc.1_Silent_p.L123L|ART5_uc001lyd.3_Silent_p.L123L|ART5_uc009yea.3_Silent_p.L123L	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	123						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTCATGTAGAGCTCCCGGG	0.607000														43			33		0	0	0.015359	0	0
KIF25	3834	broad.mit.edu	37	6	168443302	168443302	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:168443302G>A	uc003qwk.1	+	7	1153	c.891G>A	c.(889-891)gcG>gcA	p.A297A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	297					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.A297A(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCCTTGCGGCCCTGGCAG	0.657000														55			24		0	0	0.014323	0	0
DNAH5	1767	broad.mit.edu	37	5	13885301	13885301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:13885301G>A	uc003jfd.2	-	18	2822	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	927	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAATAGATGATGTCAAGGT	0.413000									Kartagener syndrome					42			32		0	0	0.015359	0	0
BTBD11	121551	broad.mit.edu	37	12	108011998	108011999	+	Missense_Mutation	DNP	GG	AA	AA	rs139486003		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:108011998_108011999GG>AA	uc001tmk.1	+	9	2816_2817	c.2295_2296GG>AA	c.(2293-2298)gaggag>gaAAag	p.E766K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E766K|BTBD11_uc001tml.1_Missense_Mutation_p.E303K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	766						integral to membrane	DNA binding	p.E766K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTCCCTGGAGGAGATTCTGGC	0.599000														24			29		0	0	0.004672	0	0
PEAR1	375033	broad.mit.edu	37	1	156874559	156874559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156874559G>A	uc001fqj.1	+	2	237	c.121G>A	c.(121-123)Gag>Aag	p.E41K	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	41	EMI.					integral to membrane		p.K40K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCACCAAGGAGTCCCACTC	0.662000														82			47		0	0	0.014410	0	0
RANBP2	5903	broad.mit.edu	37	2	109382601	109382601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:109382601C>T	uc002tem.4	+	19	5732	c.5606C>T	c.(5605-5607)tCa>tTa	p.S1869L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1869					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAGAAAATTCACCTTCATTT	0.358000														59			129		0	0	0.014410	0	0
CERS3	204219	broad.mit.edu	37	15	101042026	101042026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:101042026C>T	uc002bwa.3	-	4	633	c.62G>A	c.(61-63)tGg>tAg	p.W21*	CERS3_uc002bvz.3_Nonsense_Mutation_p.W10*|CERS3_uc002bwb.3_Nonsense_Mutation_p.W10*	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	10						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTTTCCAACCAGAACCATTC	0.373000														30			20		0	0	0.012319	0	0
KIF4B	285643	broad.mit.edu	37	5	154393531	154393531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:154393531G>A	uc010jih.1	+	0	272	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	38	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGGGGAGACTCAGGT	0.527000														14			16		0	0	0.006122	0	0
FCRLA	84824	broad.mit.edu	37	1	161681126	161681126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:161681126C>T	uc001gbe.3	+	3	672	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.P138S|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	121	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGCTCTGGGTCCCCCCGGGCC	0.602000														62			8		0	0	0.004482	0	0
MPP1	4354	broad.mit.edu	37	X	154020511	154020511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:154020511C>T	uc004fmp.2	-	1	306	c.152G>A	c.(151-153)gGg>gAg	p.G51E	MPP1_uc011mzv.2_Missense_Mutation_p.G21E|MPP1_uc010nvg.2_Missense_Mutation_p.G51E|MPP1_uc011mzw.2_Missense_Mutation_p.G51E|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	51					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCAGGAGACCCGTTGGTGTA	0.532000														48			23		0	0	0.018920	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637200	124637200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124637200C>T	uc001qba.1	-	3	1575	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	MSANTD2_uc001qaz.1_Missense_Mutation_p.D466N|MSANTD2_uc010sap.1_Missense_Mutation_p.D238N|MSANTD2_uc001qay.1_Missense_Mutation_p.D288N	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	518																	ACTCCGGGATCCACAATACAG	0.413000														34			42		0	0	0.008740	0	0
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:8678311C>T	uc002wnb.3	+	10	1051	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_uc010zrb.1_Missense_Mutation_p.R249C|PLCB1_uc002wna.3_Missense_Mutation_p.R350C|PLCB1_uc002wnc.1_Missense_Mutation_p.R249C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	350	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	p.R350C(2)		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						TGAGATGTATCGCCAAGTGCT	0.522000														122			26		0	0	0.005443	0	0
NOS1AP	9722	broad.mit.edu	37	1	162324976	162324976	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:162324976G>A	uc001gbv.2	+	7	983	c.596_splice	c.e7-1	p.G199_splice	NOS1AP_uc010pkr.1_Splice_Site_p.G194_splice|NOS1AP_uc001gbw.2_Splice_Site_p.G194_splice|NOS1AP_uc010pks.1_Splice_Site	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	199					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTTCCTGCAGGCCGCCAGCT	0.557000														87			52		0	0	0.014410	0	0
IWS1	55677	broad.mit.edu	37	2	128249591	128249591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128249591G>A	uc002ton.2	-	9	2306	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	668	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding	p.P668H(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGACTCCTTGGGGTGTTTATA	0.413000														64			20		0	0	0.016522	0	0
PLCB1	23236	broad.mit.edu	37	20	8689366	8689366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:8689366C>T	uc002wnb.3	+	11	1220	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	PLCB1_uc010zrb.1_Missense_Mutation_p.P305L|PLCB1_uc002wna.3_Missense_Mutation_p.P406L|PLCB1_uc002wnc.1_Missense_Mutation_p.P305L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	406	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	p.P406S(1)		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						TCACCTTTTCCAATTCTCCTT	0.363000														19			12		0	0	0.003163	0	0
IL23R	149233	broad.mit.edu	37	1	67724795	67724795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:67724795C>T	uc001ddo.3	+	10	1959	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L	IL23R_uc009waz.3_Missense_Mutation_p.S422L|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Missense_Mutation_p.S223L|IL23R_uc010opk.2_3'UTR|IL23R_uc010opl.2_Missense_Mutation_p.S207L|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.S371L|IL23R_uc010opn.2_Missense_Mutation_p.S470L|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.S266L|IL23R_uc010oqf.2_Missense_Mutation_p.S223L|IL23R_uc010ops.2_Missense_Mutation_p.S422L|IL23R_uc010opt.2_Missense_Mutation_p.S266L|IL23R_uc010opu.2_Missense_Mutation_p.S321L|IL23R_uc010opv.2_Missense_Mutation_p.S383L|IL23R_uc010opw.2_Missense_Mutation_p.S260L|IL23R_uc010opx.2_Missense_Mutation_p.S266L|IL23R_uc010opy.2_Missense_Mutation_p.S392L|IL23R_uc010opz.2_Missense_Mutation_p.S266L|IL23R_uc010oqa.2_Missense_Mutation_p.S266L|IL23R_uc010oqb.2_Missense_Mutation_p.S454L|IL23R_uc010oqc.2_Missense_Mutation_p.S341L|IL23R_uc010oqd.2_Missense_Mutation_p.S260L|IL23R_uc010oqe.2_Missense_Mutation_p.S223L|IL23R_uc010oqg.2_Missense_Mutation_p.S223L|IL23R_uc001dds.3_Missense_Mutation_p.S370L|IL23R_uc001ddt.3_Missense_Mutation_p.S223L	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	625					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AATAGGATTTCACTCTTGGAA	0.378000														9			9		0	0	0.006214	0	0
MYCN	4613	broad.mit.edu	37	2	16085916	16085916	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:16085916C>T	uc002rci.3	+	2	1392	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	MYCN_uc010yjr.2_Silent_p.P364P	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	364					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTGTCATCCCCCCAAAGGCTA	0.602000			A		neuroblastoma									24			54		0	0	0.014410	0	0
CPE	1363	broad.mit.edu	37	4	166385567	166385567	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:166385567G>A	uc003irg.4	+	1	610	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	111					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATACATTGGGAATATGCATG	0.393000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			18		0	0	0.006122	0	0
KRT78	196374	broad.mit.edu	37	12	53237990	53237990	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53237990G>A	uc001sbc.1	-	5	998	c.934C>T	c.(934-936)Cag>Tag	p.Q312*		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	312	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGACACCTGAAGTTCCTGG	0.517000														85			35		0	0	0.019004	0	0
MYO7B	4648	broad.mit.edu	37	2	128341871	128341871	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128341871C>T	uc002top.3	+	12	1571	c.1518C>T	c.(1516-1518)atC>atT	p.I506I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	506	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGAGCATCATCTCCCTCC	0.607000														69			16		0	0	0.006122	0	0
TMC2	117532	broad.mit.edu	37	20	2618212	2618212	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:2618212C>T	uc002wgf.1	+	18	2493	c.2478C>T	c.(2476-2478)gcC>gcT	p.A826A	TMC2_uc002wgg.1_Silent_p.A810A	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	826						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAAAAATGCCACCCAGCTCC	0.453000														24			11		0	0	0.013537	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994330	140994330	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:140994330C>T	uc004fbt.3	+	3	1464	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S39S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	380							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCCCCTCCTTCTCCTCCA	0.478000										HNSCC(15;0.026)				94			109		0	0	0.014410	0	0
PEX11G	92960	broad.mit.edu	37	19	7543203	7543203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:7543203G>A	uc002mgk.1	-	3	497	c.488C>T	c.(487-489)aCc>aTc	p.T163I	PEX11G_uc002mgl.1_Missense_Mutation_p.T93I	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	163						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CTCCTACCTGGTGAAGGGCGC	0.701000														17			3		0	0	0.004672	0	0
OR2T1	26696	broad.mit.edu	37	1	248570395	248570395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248570395G>A	uc010pzm.2	+	0	1100	c.1100G>A	c.(1099-1101)gGt>gAt	p.G367D		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	367					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GTGTCAGGAGGTGTCTTTTGA	0.507000														118			27		0	0	0.021523	0	0
SIRPD	128646	broad.mit.edu	37	20	1538283	1538283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:1538283G>A	uc002wfi.3	-	0	61	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	6						extracellular region		p.S6S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTGGAGTGGGGAGGCAGGGAT	0.577000														44			26		0	0	0.006320	0	0
TGM7	116179	broad.mit.edu	37	15	43572069	43572069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:43572069C>T	uc001zrf.1	-	9	1437	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	478					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)	TCCAGGAGATCCAGGAAGGGC	0.607000														68			60		0	0	0.014410	0	0
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:48921477G>A	uc011mmr.2	+	4	561	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CCDC120_uc010nik.3_Missense_Mutation_p.R90H|CCDC120_uc011mmq.2_Missense_Mutation_p.R78H|CCDC120_uc004dmf.3_Missense_Mutation_p.R90H|CCDC120_uc010nil.3_Missense_Mutation_p.R90H|CCDC120_uc011mms.2_Missense_Mutation_p.R78H|CCDC120_uc022bvz.1_5'Flank	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	90							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACAGCCCGCGCCTACCCT	0.682000														21			5		0	0	0.014758	0	0
SOX3	6658	broad.mit.edu	37	X	139586097	139586097	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:139586097C>A	uc004fbd.1	-	0	1129	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	377					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751000														14			5		0.00116845	0.00143763	0.001168	1	0
COL4A3	1285	broad.mit.edu	37	2	228141104	228141104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228141104C>T	uc002vom.2	+	26	2093	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	644	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTTAAGGCCCTAGGGGAGAG	0.488000														52			12		0	0	0.010729	0	0
PITRM1	10531	broad.mit.edu	37	10	3208458	3208458	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:3208458C>A	uc009xhv.2	-	3	450	c.381G>T	c.(379-381)ttG>ttT	p.L127F	PITRM1_uc001igr.2_Missense_Mutation_p.L127F|PITRM1_uc001igt.2_Missense_Mutation_p.L127F|PITRM1_uc010qah.2_Missense_Mutation_p.L95F|PITRM1_uc001igu.1_Missense_Mutation_p.L119F|PITRM1_uc010qai.2_Missense_Mutation_p.L98F|BC039685_uc001igx.1_Non-coding_Transcript	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	95					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGGACCGGTTCAACATTTTGA	0.493000														20			104		7.5252e-50	9.46137e-50	0.014410	1	0
NFRKB	4798	broad.mit.edu	37	11	129739560	129739560	+	Silent	SNP	C	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:129739560C>A	uc001qfg.3	-	21	3556	c.3435G>T	c.(3433-3435)ggG>ggT	p.G1145G	NFRKB_uc001qfi.3_Silent_p.G1120G|NFRKB_uc001qfh.3_Silent_p.G1143G|NFRKB_uc010sbw.1_Silent_p.G1130G|NFRKB_uc009zcr.3_Silent_p.G406G	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1120					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CAGTTCCAGACCCACTGGCCA	0.597000														63			29		1.17739e-12	1.46658e-12	0.005443	1	0
LDLR	3949	broad.mit.edu	37	19	11224036	11224036	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:11224036C>T	uc002mqk.4	+	8	1456	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	LDLR_uc010xlk.2_Silent_p.I423I|LDLR_uc010xll.2_Silent_p.I382I|LDLR_uc021upc.1_Silent_p.I302I|LDLR_uc010xln.2_Silent_p.I296I|LDLR_uc010xlo.2_Silent_p.I255I|LDLR_uc010xlm.2_Silent_p.I276I|LDLR_uc021upd.1_Silent_p.I160I	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	423			I -> T (in FH; Swedish patient).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCAGCCTCATCCCCAACCTGA	0.612000														141			77		0	0	0.014410	0	0
ATP1A4	480	broad.mit.edu	37	1	160125918	160125918	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:160125918C>T	uc001fve.4	+	3	974	c.495C>T	c.(493-495)atC>atT	p.I165I	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	165					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAAGATCATGGAGTCTT	0.517000														83			32		0	0	0.015359	0	0
SI	6476	broad.mit.edu	37	3	164758851	164758851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:164758851G>A	uc003fei.3	-	17	2099	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	679	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACCAAAAGTGAATTCTGCCC	0.338000										HNSCC(35;0.089)				39			14		0	0	0.008871	0	0
KLK3	354	broad.mit.edu	37	19	51363301	51363301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:51363301C>T	uc021uyi.1	+	4	745	c.704C>T	c.(703-705)gCc>gTc	p.A235V	KLK3_uc002pts.1_3'UTR|KLK3_uc002ptr.1_Missense_Mutation_p.A192V|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A235V(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GAACCATGTGCCCTGCCCGAA	0.562000														52			21		0	0	0.010504	0	0
CRLF2	64109	broad.mit.edu	37	X	1317435	1317435	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1317435C>T	uc004cpk.2	-	4	632	c.630G>A	c.(628-630)caG>caA	p.Q210Q	CRLF2_uc022brt.1_Silent_p.Q210Q|CRLF2_uc004cpl.2_Silent_p.Q98Q|CRLF2_uc022brs.1_Silent_p.Q210Q	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	210						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCTCGCCTCTCTGCCAGCATG	0.562000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									66			94		0	0	0.014410	0	0
MTUS1	57509	broad.mit.edu	37	8	17612769	17612769	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:17612769G>T	uc003wxv.3	-	1	1022	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.S183Y|MTUS1_uc010lsz.3_Missense_Mutation_p.S183Y	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	183						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGTATGGAAGGACTGACTCTT	0.443000														50			43		2.37825e-27	2.98394e-27	0.010771	1	0
TBC1D7	51256	broad.mit.edu	37	6	13316816	13316816	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:13316816G>T	uc003naj.3	-	4	614	c.506C>A	c.(505-507)tCc>tAc	p.S169Y	TBC1D7_uc011dis.2_Non-coding_Transcript|TBC1D7_uc003nal.3_Missense_Mutation_p.S169Y|TBC1D7_uc003nan.3_Missense_Mutation_p.S169Y|TBC1D7_uc003nam.3_Missense_Mutation_p.S169Y|TBC1D7_uc003nao.3_Missense_Mutation_p.S142Y|TBC1D7_uc010jpd.3_Intron	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	169	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGGGGCAAGGAATCCCGGTA	0.488000														99			35		4.3181e-19	5.38981e-19	0.013726	1	0
SPAG17	200162	broad.mit.edu	37	1	118535252	118535252	+	Missense_Mutation	SNP	G	A	A	rs147490539		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:118535252G>A	uc001ehk.2	-	35	5266	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L	SPAG17_uc021osr.1_Missense_Mutation_p.P243L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1733						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTACCAAACGGAGGTCCTGG	0.413000														11			13		0	0	0.020292	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452993	35452993	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:35452993G>A	uc001byh.3	-	15	3918	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Silent_p.F543F|ZMYM6_uc010oht.2_Silent_p.F1133F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1230					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.D1229N(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTCTTCTTCGAAGTCGGTGA	0.353000														48			25		0	0	0.018920	0	0
FAM40A	85369	broad.mit.edu	37	1	110581845	110581846	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:110581845_110581846CC>TT	uc001dza.1	+	3	396_397	c.377_378CC>TT	c.(376-378)gcc>gTT	p.A126V	FAM40A_uc001dyz.1_Missense_Mutation_p.A31V|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	126						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CGGACCCATGCCATGAGGCTCC	0.525000														11			15		0	0	0.004672	0	0
VPS13D	55187	broad.mit.edu	37	1	12408918	12408918	+	Silent	SNP	G	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:12408918G>T	uc001atv.3	+	44	9249	c.9108G>T	c.(9106-9108)gtG>gtT	p.V3036V	VPS13D_uc001atw.3_Silent_p.V3011V|VPS13D_uc001atx.3_Silent_p.V2223V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3035					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTTGCAGTGACTATGGAAG	0.433000														44			19		1.50039e-11	1.86698e-11	0.012319	1	0
PRSS22	64063	broad.mit.edu	37	16	2903233	2903233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2903233G>A	uc002cry.1	-	5	881	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	272	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTAGACCCCGGGCCTGTTGCG	0.726000														34			12		0	0	0.013537	0	0
OR14I1	401994	broad.mit.edu	37	1	248845270	248845270	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248845270G>A	uc001ieu.1	-	0	336	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACAGTAAGGAAGGCCAGCT	0.507000														44			10		0	0	0.006214	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300638	41300638	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:41300638G>A	uc001cgh.2	+	12	1696	c.1614_splice	c.e12-1	p.R538_splice	KCNQ4_uc001cgi.2_Splice_Site_p.R484_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	538					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCCCCCAACAGGATTCTCAAG	0.562000														31			44		0	0	0.013114	0	0
MUC5B	727897	broad.mit.edu	37	11	1272716	1272716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:1272716C>T	uc001lta.3	+	30	14665	c.14606C>T	c.(14605-14607)tCc>tTc	p.S4869F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4869	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGCCTCCTCCACTCTGGGA	0.657000														26			11		0	0	0.010729	0	0
TRIP12	9320	broad.mit.edu	37	2	230663753	230663753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230663753G>A	uc002vpx.1	-	22	3348	c.3239C>T	c.(3238-3240)aCc>aTc	p.T1080I	TRIP12_uc021vxw.1_Missense_Mutation_p.T1065I|TRIP12_uc002vpy.1_Missense_Mutation_p.T762I|TRIP12_uc002vpw.1_Missense_Mutation_p.T1032I|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1032					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.K1079E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGAGTAGTGGTGGGGCTTTT	0.368000														49			45		0	0	0.013114	0	0
PTPN1	5770	broad.mit.edu	37	20	49197860	49197860	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:49197860C>T	uc002xvl.3	+	8	1321	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	PTPN1_uc010zys.2_Nonsense_Mutation_p.Q310*	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	383					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	TCGAGGTGCCCAGGCTGCCTC	0.577000														47			22		0	0	0.018920	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863847	192863847	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:192863847G>A	uc002utc.3	-	5	1018	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	208	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATGCTTCTTTGATTTGGCATG	0.363000														58			14		0	0	0.020292	0	0
LRRC33	375387	broad.mit.edu	37	3	196386715	196386716	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:196386715_196386716CC>TT	uc003fwv.3	+	2	305_306	c.201_202CC>TT	c.(199-204)aaccct>aaTTct	p.P68S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	68						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TGGATGCCAACCCTCTCAAGAC	0.688000														26			8		0	0	0.004672	0	0
SYT4	6860	broad.mit.edu	37	18	40853601	40853601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:40853601C>T	uc002law.3	-	1	1162	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.E247K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	265	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCAGATAATTCAATTCCCGAG	0.318000														26			18		0	0	0.006122	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311511	103311511	+	Missense_Mutation	SNP	C	T	T	rs41280603		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103311511C>T	uc002tca.3	+	6	1667	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	509						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GTTGTTTGATCATGTGAAGAC	0.368000														69			21		0	0	0.012319	0	0
USH2A	7399	broad.mit.edu	37	1	216246510	216246510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:216246510C>T	uc001hku.1	-	27	6092	c.5705G>A	c.(5704-5706)gGa>gAa	p.G1902E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1902	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGTCATTTCCCCTGCAGTT	0.488000										HNSCC(13;0.011)				21			4		0	0	0.001168	0	0
DENND4A	10260	broad.mit.edu	37	15	65983207	65983207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:65983207G>A	uc002api.3	-	22	4107	c.3722C>T	c.(3721-3723)cCa>cTa	p.P1241L	DENND4A_uc002aph.3_Missense_Mutation_p.P1198L|DENND4A_uc002apj.3_Missense_Mutation_p.P1198L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CCTAGCAGATGGTGTTGAAAT	0.418000														11			11		0	0	0.010729	0	0
MMP15	4324	broad.mit.edu	37	16	58074057	58074057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:58074057C>T	uc002ena.3	+	3	1692	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	240					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGATGAGCCCTGGACCTTC	0.657000														30			27		0	0	0.009535	0	0
USP53	54532	broad.mit.edu	37	4	120214168	120214168	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:120214168G>A	uc003ics.4	+	17	4090	c.3024G>A	c.(3022-3024)caG>caA	p.Q1008Q	USP53_uc003icr.4_Silent_p.Q1008Q|USP53_uc003icu.4_Silent_p.Q631Q	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	1008					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGATTTTCAGGCAAACTCAG	0.383000														7			40		0	0	0.009718	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773633	35773633	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:35773633C>T	uc003olg.1	+	0	563	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	62						integral to membrane		p.F62F(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CAGGCTACTTCGGCCTTTTCT	0.597000														73			98		0	0	0.014410	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000														145			6		0	0	0.001168	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409289	4409289	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4409289C>T	uc002mal.3	+	2	593	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	165	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCCATTCAGAACGACAA	0.527000								Chromatin Structure						49			27		0	0	0.005443	0	0
TRANK1	9881	broad.mit.edu	37	3	36873929	36873929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:36873929C>T	uc003cgj.3	-	20	7261	c.7013G>A	c.(7012-7014)gGa>gAa	p.G2338E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTTCTATTCCTTTTATCCT	0.493000														79			29		0	0	0.010818	0	0
ITGA5	3678	broad.mit.edu	37	12	54798966	54798966	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:54798966G>A	uc001sga.3	-	11	1277	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	403					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCCATCCTGGTCCAGGTCCC	0.597000														31			46		0	0	0.014410	0	0
ALPK3	57538	broad.mit.edu	37	15	85401264	85401264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:85401264G>A	uc002ble.3	+	5	4068	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1301					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCCCCTGAGGGGCCTGGCCT	0.677000														10			16		0	0	0.004007	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676545	234676545	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:234676545G>A	uc002vuw.3	+	2	1050	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	UGT1A1_uc010zmv.1_Silent_p.T346T|UGT1A1_uc002vup.3_Silent_p.T346T|UGT1A1_uc002vuq.3_Silent_p.T346T|UGT1A1_uc002vur.3_Silent_p.T346T|UGT1A1_uc010zmw.1_Silent_p.T346T|UGT1A1_uc002vus.3_Silent_p.T346T|UGT1A1_uc010zmx.1_Silent_p.T346T|UGT1A1_uc002vut.3_Silent_p.T346T|UGT1A1_uc002vuu.3_Silent_p.T81T|UGT1A1_uc010zmy.1_Silent_p.T348T|UGT1A1_uc002vuv.4_Silent_p.T348T|UGT1A1_uc010zmz.1_Silent_p.T350T|UGT1A1_uc010zna.1_Silent_p.T350T|UGT1A1_uc002vux.3_Silent_p.T350T|UGT1A1_uc010znb.1_Silent_p.T350T|UGT1A1_uc002vuy.3_Silent_p.T350T|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Silent_p.T349T|UGT1A1_uc002vvb.3_Silent_p.T349T	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	349					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGAACAACACGATACTTGTTA	0.448000														48			113		0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	114185976	114185976	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:114185976C>T	uc003ynu.3	-	3	843	c.684G>A	c.(682-684)tgG>tgA	p.W228*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.W188*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W228*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.W228*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	228	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGAAAATCCCACGAAGCTG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				28			18		0	0	0.008871	0	0
PRPF19	27339	broad.mit.edu	37	11	60671330	60671330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:60671330G>A	uc001nqf.3	-	1	230	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	8	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.S8S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CACTTCGTTAGAGACTGTAGA	0.512000														25			29		0	0	0.015359	0	0
C14orf93	60686	broad.mit.edu	37	14	23468224	23468224	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:23468224G>A	uc001wib.2	-	1	319	c.9C>T	c.(7-9)ttC>ttT	p.F3F	C14orf93_uc001wic.2_Intron|C14orf93_uc001wig.3_Silent_p.F3F|C14orf93_uc001wih.3_Silent_p.F3F|C14orf93_uc001wie.3_Silent_p.F3F|C14orf93_uc001wia.4_Silent_p.F3F|C14orf93_uc001wif.3_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	Homo sapiens chromosome 14 open reading frame 93 (C14orf93), transcript variant 1, mRNA.	3						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGTGGCACTGAAGGACATGG	0.567000														77			48		0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				46			81		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9074964	9074964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9074964G>A	uc002mkp.3	-	2	12686	c.12482C>T	c.(12481-12483)tCc>tTc	p.S4161F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4163	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTACCAGGGAAGAGGAAGA	0.483000														35			13		0	0	0.020292	0	0
WDR49	151790	broad.mit.edu	37	3	167320025	167320025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:167320025G>A	uc003fev.1	-	2	446	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	WDR49_uc011bpd.1_Missense_Mutation_p.P101S|WDR49_uc003few.1_Missense_Mutation_p.P389S	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	48										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAACATAGGGATTCCAAAGG	0.388000														20			7		0	0	0.001984	0	0
SMYD2	56950	broad.mit.edu	37	1	214491427	214491427	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:214491427C>T	uc021pix.1	+	3	387	c.354C>T	c.(352-354)atC>atT	p.I118I	SMYD2_uc021piw.1_Silent_p.I26I|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	118					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCTAGAAAATCCACCCAGAGA	0.398000														83			77		0	0	0.014410	0	0
THBS2	7058	broad.mit.edu	37	6	169648823	169648823	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:169648823G>A	uc003qwt.3	-	3	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	100	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T99M(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGAGCCAACAGCGTGCCCCTG	0.622000														35			36		0	0	0.019004	0	0
BTK	695	broad.mit.edu	37	X	100611929	100611929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:100611929C>T	uc010nno.2	-	13	1527	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Missense_Mutation_p.D398N|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.3_Missense_Mutation_p.D398N	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	398	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCTTTGGATCAATTTCCCAT	0.428000									Agammaglobulinemia, X-linked					260			93		0	0	0.014410	0	0
NPR1	4881	broad.mit.edu	37	1	153656275	153656275	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:153656275C>T	uc001fcs.4	+	6	1880	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	NPR1_uc010pdz.2_Silent_p.L233L|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	487					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTCGGCATTCTGATTGTCTC	0.567000														133			24		0	0	0.004656	0	0
C10orf35	219738	broad.mit.edu	37	10	71392586	71392586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:71392586C>T	uc001jpq.4	+	3	307	c.137C>T	c.(136-138)cCt>cTt	p.P46L		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	46						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCAGGGGGTCCTGGCCCCCGC	0.602000														8			17		0	0	0.006122	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494521	123494522	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123494521_123494522GG>AA	uc001uej.1	-	4	717_718	c.518_519CC>TT	c.(517-519)tcc>tTT	p.S173F	PITPNM2_uc001uek.1_Missense_Mutation_p.S173F|PITPNM2_uc009zxu.1_Missense_Mutation_p.S173F	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCAGTTCTCGGACAGGGGCCC	0.550000														100			52		0	0	0.004672	0	0
FAT3	120114	broad.mit.edu	37	11	92087823	92087823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:92087823G>A	uc001pdj.4	+	0	2562	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	849	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTGGTACTGAAATCATTCA	0.403000										TCGA Ovarian(4;0.039)				160			87		0	0	0.014410	0	0
RASGRF2	5924	broad.mit.edu	37	5	80404841	80404841	+	Silent	SNP	T	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:80404841T>C	uc003kha.2	+	12	1832	c.1782T>C	c.(1780-1782)ggT>ggC	p.G594G	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	594					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GATGTAATGGTTTAATGACTA	0.323000														28			14		0	0	0.003163	0	0
FIG4	9896	broad.mit.edu	37	6	110086272	110086272	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:110086272G>A	uc003ptt.2	+	13	1706	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	FIG4_uc011eau.1_Silent_p.Q220Q	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	497	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ACACAGCACAGTTTATGGTGG	0.413000														39			19		0	0	0.008871	0	0
DDX24	57062	broad.mit.edu	37	14	94519365	94519365	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94519365G>A	uc001ycj.3	-	7	2386	c.2287C>T	c.(2287-2289)Ctg>Ttg	p.L763L	DDX24_uc010twq.2_Silent_p.L720L|DDX24_uc010twr.2_Silent_p.L513L	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	763					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCTTCTTCCAGCTCAATCTCC	0.473000														39			38		0	0	0.006230	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:83400549C>T	uc004eej.2	-	5	474	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_uc011mqt.2_Silent_p.G146G|RPS6KA6_uc011mqu.2_Silent_p.G43G|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000														5			3		0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141143519	141143519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:141143519G>A	uc002tvj.1	-	66	11446	c.10474C>T	c.(10474-10476)Cac>Tac	p.H3492Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3492	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3491N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCGCCAGTGATCGGGAATA	0.383000										TSP Lung(27;0.18)				37			51		0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	32563281	32563281	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:32563281C>T	uc004dda.1	-	16	2407	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	DMD_uc004dcz.2_Silent_p.R598R|DMD_uc004dcy.1_Silent_p.R717R|DMD_uc004ddb.1_Silent_p.R713R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Silent_p.R713R	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	721					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCACCTTTTCCTAATTTCAG	0.418000														8			4		0	0	0.009096	0	0
DERL1	79139	broad.mit.edu	37	8	124031497	124031497	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124031497G>A	uc003ypl.2	-	6	841	c.555C>T	c.(553-555)ttC>ttT	p.F185F	DERL1_uc003ypm.2_Intron|DERL1_uc011lif.1_Silent_p.F85F|DERL1_uc003ypn.2_Silent_p.F185F	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	185					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAACATTAGGAAAAAATAAA	0.368000														20			18		0	0	0.007413	0	0
TMEM109	79073	broad.mit.edu	37	11	60687275	60687275	+	Missense_Mutation	SNP	G	A	A	rs2301726	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:60687275G>A	uc001nqg.3	+	1	488	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	37						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CAGTCCCGTCGAGACTTTGCA	0.547000														35			26		0	0	0.006320	0	0
IKZF2	22807	broad.mit.edu	37	2	213872400	213872400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:213872400C>T	uc002vem.3	-	7	1434	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	IKZF2_uc010fuu.3_Missense_Mutation_p.G277E|IKZF2_uc002vej.3_Missense_Mutation_p.G369E|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.G348E|IKZF2_uc002vel.3_Missense_Mutation_p.G343E|IKZF2_uc010fuw.3_Missense_Mutation_p.G196E|IKZF2_uc010fux.3_Missense_Mutation_p.G196E|IKZF2_uc010fuy.3_Missense_Mutation_p.G350E|IKZF2_uc002ven.3_Missense_Mutation_p.G396E|IKZF2_uc002vei.3_Missense_Mutation_p.G200E	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GGCAGGGTGTCCTTGGTAGGA	0.517000														48			7		0	0	0.004482	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8434162	8434162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:8434162G>A	uc002mjq.1	+	3	802	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ANGPTL4_uc002mjr.1_Intron|ANGPTL4_uc010xkc.1_Missense_Mutation_p.E36K	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	203	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGGACTATTTGAAATCCAGCC	0.572000														23			16		0	0	0.006122	0	0
KRT2	3849	broad.mit.edu	37	12	53045745	53045745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53045745C>T	uc001sat.3	-	0	215	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	61	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AACAAGACTCCGACTGCCAAA	0.617000														22			31		0	0	0.010818	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881297	228881297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228881297C>T	uc002vpq.2	-	6	4320	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1425K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1425K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1425						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAAGGCACTTCCCTCGAGCAA	0.468000														65			17		0	0	0.006122	0	0
FCRL5	83416	broad.mit.edu	37	1	157490932	157490932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:157490932G>A	uc009wsm.3	-	10	2548	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	FCRL5_uc001fqu.3_Missense_Mutation_p.S797L	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.S797L(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGGGGACGACCTATTTCC	0.592000														99			66		0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16525965	16525965	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:16525965G>A	uc010cpi.2	-	5	2327	c.2235C>T	c.(2233-2235)atC>atT	p.I745I	ZNF624_uc021tre.1_Silent_p.I619I	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCACTATGGATTTTCTGAT	0.413000														72			64		0	0	0.014410	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234846	44234847	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:44234846_44234847CC>TT	uc003bee.1	-	3	524_525	c.408_409GG>AA	c.(406-411)aaggat>aaAAat	p.D137N	SULT4A1_uc003bed.1_Missense_Mutation_p.D58N|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	137					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACCACCAGATCCTTGGGGTTGC	0.564000														53			22		0	0	0.004672	0	0
ZNF578	147660	broad.mit.edu	37	19	53014519	53014519	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:53014519C>T	uc002pzp.4	+	5	1129	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTGGAAAGTCCTTCAGTTACA	0.408000														82			26		0	0	0.021523	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034921	107034921	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:107034921G>A	uc001ysz.3	-	1	188	c.159C>T	c.(157-159)atC>atT	p.I53I	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		GCACCCAGCCGATCCAGTAGC	0.572000														21			13		0	0	0.013537	0	0
AC2	0	broad.mit.edu	37	1	151992754	151992754	+	RNA	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:151992754G>A	uc001ezm.1	+	8		c.2419G>A								Homo sapiens AC2 pseudogene, precursor RNA sequence.																		TATGCTGAGGGATGAGCTGCA	0.542000														248			52		0	0	0.014410	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158548760C>T	uc010pin.2	-	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000														111			64		0	0	0.014410	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642774	91642774	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:91642774A>C	uc004efk.2	+	4	4030	c.3185A>C	c.(3184-3186)cAg>cCg	p.Q1062P	PCDH11X_uc004efl.2_Missense_Mutation_p.Q1052P|PCDH11X_uc010nmv.2_Intron|PCDH11X_uc004efm.2_Missense_Mutation_p.Q1062P|PCDH11X_uc004efn.2_Missense_Mutation_p.Q1052P|PCDH11X_uc004efo.2_Missense_Mutation_p.Q1025P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1062					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAAGGCTCTCAGGAAAGCAGC	0.498000														48			11		0	0	0.007413	0	0
KRT20	54474	broad.mit.edu	37	17	39036136	39036136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39036136C>T	uc002hvl.3	-	4	905	c.847G>A	c.(847-849)Gag>Aag	p.E283K		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	283	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGTTGAACCTCAGTTCCTTTT	0.433000														21			24		0	0	0.021523	0	0
FILIP1	27145	broad.mit.edu	37	6	76024622	76024622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:76024622C>T	uc010kbe.3	-	5	1465	c.935G>A	c.(934-936)aGg>aAg	p.R312K	FILIP1_uc003phy.1_Missense_Mutation_p.R309K|FILIP1_uc003phz.3_Missense_Mutation_p.R210K|FILIP1_uc003pia.3_Missense_Mutation_p.R309K|FILIP1_uc003pib.1_Missense_Mutation_p.R61K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	309										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGAGAAAACCTCGAAGCCTT	0.418000														63			30		0	0	0.006320	0	0
CPQ	10404	broad.mit.edu	37	8	97847235	97847235	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:97847235C>T	uc003yhw.3	+	2	634	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CPQ_uc010mbe.2_Silent_p.F156F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	156					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGACCTCTTTCGATGAACTGC	0.448000														29			21		0	0	0.012319	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502383	35502383	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35502383C>T	uc010xsf.1	+	6	546	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GRAMD1A_uc002nxi.1_Silent_p.F264F|GRAMD1A_uc010xse.1_Silent_p.F177F|GRAMD1A_uc002nxk.2_Silent_p.F170F|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	177						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GACAGCATTTCTTCACTTCCT	0.617000														78			33		0	0	0.005524	0	0
DHX58	79132	broad.mit.edu	37	17	40255626	40255626	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:40255626G>A	uc002hyw.3	-	12	1977	c.1754_splice	c.e12+1	p.S585_splice	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.S578L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	585	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGGTCTCACGAGAAGTTGGG	0.567000														17			11		0	0	0.008291	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004031	126004031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:126004031G>A	uc001uhe.1	+	3	1146	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	TMEM132B_uc021rgl.1_Missense_Mutation_p.D270N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	380						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTTGGAATTGATAATAGCAG	0.463000														63			25		0	0	0.004656	0	0
ERAP2	64167	broad.mit.edu	37	5	96232132	96232132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:96232132C>T	uc003kmq.3	+	7	2005	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.S432L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.S381L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	432					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCATTGAATTCATCCCGCCCT	0.358000														3			6		0	0	0.001984	0	0
SORL1	6653	broad.mit.edu	37	11	121483501	121483501	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:121483501G>A	uc001pxx.3	+	39	5508	c.5379G>A	c.(5377-5379)agG>agA	p.R1793R	SORL1_uc010rzp.1_Silent_p.R639R|SORL1_uc010rzq.1_Silent_p.R408R	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1793	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGCAAGAGAGGAGAACTTTGA	0.478000														16			14		0	0	0.004990	0	0
MLL5	55904	broad.mit.edu	37	7	104753358	104753358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:104753358C>T	uc003vcm.3	+	26	5689	c.5155C>T	c.(5155-5157)Cct>Tct	p.P1719S	MLL5_uc010ljc.3_Missense_Mutation_p.P1719S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.P453S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1719	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CCCACCACCCCCTCCGCCGCC	0.552000														38			32		0	0	0.009535	0	0
CAP2	10486	broad.mit.edu	37	6	17507875	17507875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:17507875C>T	uc003ncb.3	+	5	691	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.P124S|CAP2_uc011djb.2_Intron|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	150					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTCTCAGTCTCCCAAACCTGG	0.423000														35			53		0	0	0.014410	0	0
NLRP3	114548	broad.mit.edu	37	1	247587759	247587759	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:247587759G>A	uc001icr.3	+	4	1152	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	NLRP3_uc001ics.3_Silent_p.K338K|NLRP3_uc001icu.3_Silent_p.K338K|NLRP3_uc001icw.3_Silent_p.K338K|NLRP3_uc001icv.3_Silent_p.K338K|NLRP3_uc010pyw.2_Silent_p.K336K|NLRP3_uc001ict.1_Silent_p.K336K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	338	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATCAGAAAGAAGCTGCTTC	0.587000														127			19		0	0	0.007413	0	0
CELSR2	1952	broad.mit.edu	37	1	109801229	109801229	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:109801229C>T	uc001dxa.4	+	1	3547	c.3486C>T	c.(3484-3486)gaC>gaT	p.D1162D		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1162					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGCCACCGGACCACGTGGTGG	0.706000														72			44		0	0	0.009718	0	0
LAMB4	22798	broad.mit.edu	37	7	107704394	107704394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:107704394C>T	uc010ljo.1	-	21	2957	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	LAMB4_uc003vey.2_Missense_Mutation_p.G958E|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	958	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTTGGATTTCCATAGAAACC	0.498000														56			49		0	0	0.014410	0	0
SLC4A8	9498	broad.mit.edu	37	12	51899696	51899696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:51899696G>A	uc001rys.1	+	23	3429	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E	SLC4A8_uc001ryv.3_5'Flank|SLC4A8_uc001ryo.2_Missense_Mutation_p.G1031E|SLC4A8_uc001ryt.1_Non-coding_Transcript	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	1084					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)		ATGAATTCTGGAAATGCAAAG	0.338000														6			3		0	0	0.004672	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														121			204		0	0	0.014410	0	0
DUOXA1	90527	broad.mit.edu	37	15	45409796	45409796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:45409796C>T	uc001zup.3	-	10	1769	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	DUOXA2_uc001zuo.3_Intron|DUOXA2_uc010beb.3_Intron|DUOXA1_uc010uem.2_Missense_Mutation_p.D412N|DUOXA1_uc010bec.3_Missense_Mutation_p.D457N	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		cgcctgtaatcccagcacttt	0.552000														18			9		0	0	0.004482	0	0
OR6T1	219874	broad.mit.edu	37	11	123814011	123814011	+	Missense_Mutation	SNP	G	A	A	rs140103246		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123814011G>A	uc010sab.2	-	0	535	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAACTGTCACGAAAGAAGTGG	0.572000														22			27		0	0	0.006320	0	0
SMG7	9887	broad.mit.edu	37	1	183502377	183502377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:183502377C>T	uc001gqg.3	+	8	1172	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	SMG7_uc010pob.2_Missense_Mutation_p.L337F|SMG7_uc021pga.1_Missense_Mutation_p.L266F|SMG7_uc001gqf.3_Missense_Mutation_p.L308F|SMG7_uc001gqh.3_Missense_Mutation_p.L308F|SMG7_uc010poc.2_Missense_Mutation_p.L266F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	308					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTTCATCACCTTCGTGACTT	0.423000														105			56		0	0	0.014410	0	0
CNTN2	6900	broad.mit.edu	37	1	205027716	205027716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:205027716G>A	uc001hbr.3	+	4	681	c.412G>A	c.(412-414)Gag>Aag	p.E138K	CNTN2_uc001hbq.1_Missense_Mutation_p.E29K|CNTN2_uc009xbi.3_Missense_Mutation_p.E29K|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	138	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATTCTCCAAGGAGGAGCGAGA	0.622000														42			7		0	0	0.003080	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:143771320G>A	uc011ktx.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000														60			53		0	0	0.014410	0	0
TRO	7216	broad.mit.edu	37	X	54949023	54949023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:54949023C>T	uc004dtq.3	+	2	165	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	TRO_uc011moj.1_5'UTR|TRO_uc004dts.3_Missense_Mutation_p.P20S|TRO_uc004dtr.3_Missense_Mutation_p.P20S|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Intron|TRO_uc004dtw.3_Intron|TRO_uc004dtx.3_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	20					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCCTCTGCCTCCCCCGGGGAG	0.577000														29			5		0	0	0.014758	0	0
PCF11	51585	broad.mit.edu	37	11	82879498	82879498	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:82879498C>T	uc001ozx.4	+	7	2466	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCF11_uc010rsu.1_Silent_p.F838F	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	707	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATCTCCATTCAATGATCGTT	0.353000														16			9		0	0	0.004482	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:181745324G>A	uc009wxt.3	+	37	5422	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1743K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1724K|CACNA1E_uc001gox.1_Missense_Mutation_p.E969K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1743	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000														136			76		0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49066810	49066810	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:49066810G>A	uc004dnb.3	-	38	4634	c.4572C>T	c.(4570-4572)aaC>aaT	p.N1524N	CACNA1F_uc010nip.3_Silent_p.N1513N	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1524					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGAGTGTGGCGTTGAATGTCA	0.552000														116			49		0	0	0.014410	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214154	1214154	+	Silent	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:1214154C>T	uc003jbw.4	+	5	917	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	287					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCCTCATCTCCTTCTCCA	0.622000														39			45		0	0	0.014410	0	0
SCOC	60592	broad.mit.edu	37	4	141300277	141300277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:141300277C>T	uc003iif.2	+	1	211	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	SCOC_uc003iib.2_Missense_Mutation_p.H25Y|SCOC_uc011che.1_Missense_Mutation_p.H25Y|SCOC_uc003iid.2_Missense_Mutation_p.H25Y|SCOC_uc011chf.1_Missense_Mutation_p.H25Y|SCOC_uc011chg.1_Missense_Mutation_p.H25Y|SCOC_uc011chh.1_Missense_Mutation_p.H62Y|SCOC_uc003iig.2_Missense_Mutation_p.H62Y	NM_001153484	NP_001146956	Q9UIL1	SCOC_HUMAN	Homo sapiens short coiled-coil protein (SCOC), transcript variant 1, mRNA.	62						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TATTGTAGACCATTCCTCAAG	0.328000														20			57		0	0	0.014410	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996939	19996939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:19996939G>A	uc002ktv.1	-	0	940	c.836C>T	c.(835-837)cCa>cTa	p.P279L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	279						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGCTCCTTTTGGAGGATTATC	0.348000														49			47		0	0	0.013114	0	0
CPZ	8532	broad.mit.edu	37	4	8609122	8609122	+	Silent	SNP	G	A	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:8609122G>A	uc003glm.3	+	6	1371	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.E388E|CPZ_uc003gln.3_Silent_p.E262E	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	399					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E398K(1)|p.K400del(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCAGGAGGAGAAGATGTTTT	0.622000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			17		0	0	0.006122	0	0
LRGUK	136332	broad.mit.edu	37	7	133932392	133932392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:133932392C>T	uc003vrm.1	+	16	2084	c.2068C>T	c.(2068-2070)Caa>Taa	p.Q690*		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	690							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACTCCTATTTCAAAGGTAGCA	0.408000														36			17		0	0	0.004007	0	0
GPR101	83550	broad.mit.edu	37	X	136112408	136112408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:136112408C>T	uc011mwh.2	-	0	1426	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	476						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGGGGCTTTTCCTTGCAGAAG	0.498000														35			54		0	0	0.014410	0	0
COL16A1	1307	broad.mit.edu	37	1	32159756	32159757	+	Frame_Shift_Ins	INS	-	TG	TG			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:32159756_32159757insTG	uc001btk.1	-	11	1361_1362	c.996_997insCA	c.(994-999)ccctctfs	p.P332fs	COL16A1_uc001btj.1_Frame_Shift_Ins_p.P161fs|COL16A1_uc001btl.4_Frame_Shift_Ins_p.P332fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	332	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGGGGCCAGAGGGAGCAAGTG	0.554													---	21	---	---	12	---					
FLG2	388698	broad.mit.edu	37	1	152329899	152329907	+	In_Frame_Del	DEL	ATCCTCTTC	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:152329899_152329907delATCCTCTTC	uc001ezw.4	-	2	428_436	c.355_363delGAAGAGGAT	c.(355-363)gaagaggatdel	p.EED119del	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	119							calcium ion binding|structural molecule activity	p.E119Q(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGTGTATCCTCTTCATCCTCTTCT	0.459													---	161	---	---	48	---					
NEK11	79858	broad.mit.edu	37	3	130887663	130887692	+	Splice_Site	DEL	AATCTCTTTAGGAAAAAACACATTTAAAAG	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:130887663_130887692delAATCTCTTTAGGAAAAAACACATTTAAAAG	uc003eny.3	+	13	1503	c.1177_splice	c.e13-1	p.E393_splice	NEK11_uc003enx.3_Splice_Site_p.E393_splice|NEK11_uc003eoa.3_Splice_Site_p.E393_splice|NEK11_uc003enz.3_Splice_Site_p.E211_splice|NEK11_uc011blk.2_Intron|NEK11_uc011bll.2_Splice_Site_p.E288_splice|NEK11_uc011blm.2_Splice_Site_p.E393_splice	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	393					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.G399*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACTTTGTCATAATCTCTTTAGGAAAAAACACATTTAAAAGGAATGGAAGA	0.422													---	4	---	---	5	---					
BDH1	622	broad.mit.edu	37	3	197238769	197238769	+	Frame_Shift_Del	DEL	G	-	-	rs58455529		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:197238769delG	uc003fxr.3	-	7	1431	c.1029delC	c.(1027-1029)cgcfs	p.R343fs	BDH1_uc003fxs.3_Frame_Shift_Del_p.R343fs|BDH1_uc003fxu.3_Frame_Shift_Del_p.R343fs	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGACTCTTCAGCGGATGTAGA	0.557													---	36	---	---	26	---					
ZCCHC9	84240	broad.mit.edu	37	5	80608420	80608420	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:80608420delT	uc003khk.4	+	5	1245	c.755delT	c.(754-756)attfs	p.I252fs	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Frame_Shift_Del_p.I252fs|ZCCHC9_uc003khj.3_Frame_Shift_Del_p.I252fs	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	252							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TATGAAGAAATTTTGGATGTA	0.353													---	24	---	---	12	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	CCG	CCG			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:161413044_161413045insCCG	uc003qtn.3	+	0	223_224	c.81_82insCCG	c.(79-84)insCCG	p.36_37insP	MAP3K4_uc010kkc.1_In_Frame_Ins_p.36_37insP|MAP3K4_uc003qto.3_In_Frame_Ins_p.36_37insP|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	36	Poly-Pro.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													---	8	---	---	4	---					
ZFHX4	79776	broad.mit.edu	37	8	77618383	77618383	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:77618383delC	uc003yau.2	+	1	2447	c.2060delC	c.(2059-2061)gccfs	p.A687fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.A687fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.A687fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	687						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAGGCTTGCCCGGGGTGAG	0.507										HNSCC(33;0.089)			---	30	---	---	19	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	628	---	---	9	---					
FUT11	170384	broad.mit.edu	37	10	75532131	75532131	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75532131delG	uc001jva.3	+	0	83	c.40delG	c.(40-42)gggfs	p.G14fs	FUT11_uc001juy.1_Frame_Shift_Del_p.G14fs|FUT11_uc001juz.1_Frame_Shift_Del_p.G14fs	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	14					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GGTCCTTCTAGGGGTGCTCAG	0.711													---	2	---	---	8	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:55631503delT	uc002act.3	+	6	1149	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_uc010ugg.2_Frame_Shift_Del_p.I83fs	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													---	5	---	---	3	---					
RBBP6	5930	broad.mit.edu	37	16	24581176	24581176	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:24581176delT	uc002dmh.3	+	16	4205	c.3165delT	c.(3163-3165)tctfs	p.S1055fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.S922fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.S1021fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.S888fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1055	Interaction with RB1 (By similarity).				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)		CTCCTCGATCTGAACCTCCAA	0.403													---	34	---	---	13	---					
SGSM2	9905	broad.mit.edu	37	17	2268598	2268602	+	Frame_Shift_Del	DEL	GTTCC	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:2268598_2268602delGTTCC	uc002fum.4	+	10	1428_1432	c.1251_1255delGTTCC	c.(1249-1257)gtgttccggfs	p.V417fs	SGSM2_uc002fun.4_Frame_Shift_Del_p.V417fs|SGSM2_uc010vqw.2_Frame_Shift_Del_p.V417fs|SGSM2_uc002fuo.2_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	417						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCGACTATGTGTTCCGGATCATCTA	0.629													---	8	---	---	4	---					
KANK3	256949	broad.mit.edu	37	19	8398852	8398852	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:8398852delC	uc010dwa.3	-	4	1642	c.1576delG	c.(1576-1578)gacfs	p.D526fs	KANK3_uc002mjp.1_Frame_Shift_Del_p.G37fs	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	526										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCCCGGATGTCCCCGCCGCTG	0.736													---	4	---	---	2	---					
APOC4	346	broad.mit.edu	37	19	45452694	45452695	+	RNA	INS	-	T	T	rs150448996	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:45452694_45452695insT	uc002pah.3	+	5		c.1701_1702insT				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		AGGACTCAAGGGCCAAGATGGA	0.446													---	6	---	---	3	---					
IFNAR2	3455	broad.mit.edu	37	21	34668489	34668489	+	Splice_Site	DEL	T	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:34668489delT	uc002yrl.1	+	6	1222	c.811_splice	c.e6-1	p.F271_splice	IFNAR2_uc002yrk.1_Splice_Site_p.F269_splice	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	285					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CCCTCCACAGTTTTTGGGCCA	0.378													---	291	---	---	8	---					
STAG2	10735	broad.mit.edu	37	X	123179140	123179140	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:123179140delA	uc004eua.3	+	7	993	c.589delA	c.(589-591)atgfs	p.M197fs	STAG2_uc004etz.4_Frame_Shift_Del_p.M197fs|STAG2_uc004eub.3_Frame_Shift_Del_p.M197fs|STAG2_uc004euc.3_Frame_Shift_Del_p.M197fs|STAG2_uc004eud.3_Frame_Shift_Del_p.M197fs|STAG2_uc004eue.3_Frame_Shift_Del_p.M197fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	197					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGTATATGATGGATACAGT	0.393													---	89	---	---	122	---