Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000													30	80					0	0	0.000409698	0	0
ISG20	3669	broad.mit.edu	37	15	89182723	89182723	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:89182723C>T	ENST00000306072.5	+	2	484	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ISG20_ENST00000379224.5_Silent_p.F42F|ISG20_ENST00000560741.1_Silent_p.F42F	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	42					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			ACGACAAGTTCATCCGGCCTG	0.647000													6	28					0	0	3.59834e-05	0	0
OR5D13	390142	broad.mit.edu	37	11	55541597	55541597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:55541597G>A	ENST00000361760.1	+	1	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTACCATTATGAAGATGCGAT	0.418000													7	39					0	0	8.12818e-05	0	0
NWD1	284434	broad.mit.edu	37	19	16910720	16910720	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:16910720G>A	ENST00000524140.2	+	17	3901	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	NWD1_ENST00000523826.1_Silent_p.G955G|NWD1_ENST00000379808.3_Silent_p.G1161G|NWD1_ENST00000552788.1_Silent_p.G1161G|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000339803.6_Silent_p.G1026G	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1161							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						CAGAACAGGGGACCCTTCTGG	0.577000													9	33					0	0	0.000673444	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906773	74906773	+	Missense_Mutation	SNP	G	G	T	rs150970311		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:74906773G>T	ENST00000357877.2	+	14	1899	c.1750G>T	c.(1750-1752)Gtc>Ttc	p.V584F	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.V429F	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	584	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGCGCATGTGGTCTTGCCATG	0.572000													16	113					9.16793e-09	1.57823e-07	0.000566183	1	0
RNF17	56163	broad.mit.edu	37	13	25376549	25376549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr13:25376549G>A	ENST00000255324.5	+	14	1841	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	RNF17_ENST00000255325.5_Missense_Mutation_p.E598K|RNF17_ENST00000381921.1_Missense_Mutation_p.E597K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	597					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTAAAGTGGAATTTTTGAA	0.333000													6	60					0	0	3.59834e-05	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39623286C>T	ENST00000225899.3	-	1	395	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000													6	67					0	0	0.000157383	0	0
RNF148	378925	broad.mit.edu	37	7	122342725	122342725	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:122342725A>T	ENST00000434824.1	-	1	296	c.80T>A	c.(79-81)cTt>cAt	p.L27H	CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.L27H|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	27						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGGAAAGCTAAGTAGTAGAAA	0.408000													4	17					0	0	0.00024832	0	0
IWS1	55677	broad.mit.edu	37	2	128262652	128262652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:128262652G>A	ENST00000295321.4	-	3	1086	c.827C>T	c.(826-828)tCg>tTg	p.S276L	IWS1_ENST00000455721.2_Missense_Mutation_p.S283L|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	276	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			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)		CTCACTTTCCGAATCACTGAT	0.542000													38	108					0	0	0.000437636	0	0
NLGN3	54413	broad.mit.edu	37	X	70387190	70387190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:70387190G>A	ENST00000374051.3	+	6	1505	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	NLGN3_ENST00000536169.1_Missense_Mutation_p.E375K|NLGN3_ENST00000358741.3_Missense_Mutation_p.E415K|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	415					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CAAGTTTGTGGAAGGGGTGGT	0.512000													11	36					0	0	0.000978159	0	0
ZNF558	148156	broad.mit.edu	37	19	8922255	8922255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:8922255C>T	ENST00000601372.1	-	10	1622	c.911G>A	c.(910-912)aGc>aAc	p.S304N	ZNF558_ENST00000301475.1_Missense_Mutation_p.S304N|ZNF558_ENST00000444186.2_Missense_Mutation_p.S233N			Q96NG5	ZN558_HUMAN	zinc finger protein 558	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGATAGGAGCTCTTCCTGAA	0.443000													8	48					0	0	0.000274275	0	0
F11	2160	broad.mit.edu	37	4	187197534	187197534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:187197534G>A	ENST00000264692.4	+	7	922	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	F11_ENST00000403665.2_Missense_Mutation_p.E249K			P03951	FA11_HUMAN	coagulation factor XI	249					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATGGCCCAAAGAATCTCAAAG	0.378000													5	39					0	0	0.000602214	0	0
MOV10L1	54456	broad.mit.edu	37	22	50558939	50558939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr22:50558939G>A	ENST00000262794.5	+	10	1546	c.1463G>A	c.(1462-1464)aGa>aAa	p.R488K	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R468K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R488K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R488K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	488					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGGAACTCAAGACGACAACTT	0.338000													6	60					0	0	3.59834e-05	0	0
RAB27B	5874	broad.mit.edu	37	18	52546620	52546620	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:52546620G>A	ENST00000262094.5	+	3	695	c.174G>A	c.(172-174)ccG>ccA	p.P58P	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	58					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CACAAGGACCGAATGGATCTT	0.403000													14	38					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24922338	24922338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:24922338C>T	ENST00000329468.2	+	1	1798	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCCTATCCCTCCACTTTC	0.527000													10	55					0	0	0.000442599	0	0
GPR98	84059	broad.mit.edu	37	5	89990022	89990022	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:89990022G>A	ENST00000405460.2	+	33	7545	c.7449G>A	c.(7447-7449)agG>agA	p.R2483R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2483					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GGACCTACAGGAAAAACATGA	0.493000													4	33					0	0	0.00024832	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258248	25258248	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:25258248A>T	ENST00000328086.7	-	5	2072	c.1269T>A	c.(1267-1269)gaT>gaA	p.D423E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCAACAAAGCATCCATGTCCT	0.488000													15	77					0	0	0.000219431	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680353	31680353	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:31680353C>T	ENST00000375483.3	+	9	1233	c.1233C>T	c.(1231-1233)ccC>ccT	p.P411P		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	411						cytoplasm|extracellular region	lipid binding										AGCTGCCTCCCATGGGTGACA	0.592000													12	44					0	0	0.000151284	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291148	79291148	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:79291148C>T	ENST00000419573.3	-	19	3088	c.2814G>A	c.(2812-2814)agG>agA	p.R938R	RASGRF1_ENST00000394745.3_Silent_p.R154R|RASGRF1_ENST00000558480.2_Silent_p.R922R|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	940					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						TGTCTCCATTCCTCTGGTCTG	0.577000													5	28					0	0	0.000602214	0	0
GPC4	2239	broad.mit.edu	37	X	132458257	132458257	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:132458257G>A	ENST00000370828.3	-	3	1151	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GPC4_ENST00000535467.1_Silent_p.L139L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	209					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAGTAACCTGGAGCTTCAATT	0.512000													9	74					0	0	0.000274275	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708449	108708449	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:108708449G>A	ENST00000218006.2	-	3	1245	c.954C>T	c.(952-954)tcC>tcT	p.S318S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	318					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCTTTTCTTGGGACTCCACTG	0.473000													12	115					0	0	0.000151284	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847233	47847233	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:47847233G>A	ENST00000339488.4	-	3	1380	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	449						integral to membrane	hedgehog receptor activity										GTTCACGGAGGAAGTGCTGAA	0.453000													7	41					0	0	8.12818e-05	0	0
XIST	7503	broad.mit.edu	37	X	73064974	73064974	+	RNA	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73064974C>T	ENST00000429829.1	-	0	7614					NR_001564.2																						TGGTTGTGGTCACATACAATT	0.498000													13	76					0	0	0.000151284	0	0
DCHS2	54798	broad.mit.edu	37	4	155156816	155156816	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:155156816G>A	ENST00000357232.3	-	25	7622	c.7623C>T	c.(7621-7623)atC>atT	p.I2541I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2541					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCACCAGGCTGATTGAAAAGC	0.383000													5	27					0	0	0.000602214	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:2843503C>T	ENST00000380445.3	+	13	1326	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	VPS16_ENST00000380443.3_Silent_p.F104F|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	418					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000													23	93					0	0	0.00047179	0	0
TLE4	7091	broad.mit.edu	37	9	82267644	82267644	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr9:82267644T>C	ENST00000376520.4	+	7	1355	c.527T>C	c.(526-528)cTa>cCa	p.L176P	TLE4_ENST00000376537.4_Missense_Mutation_p.L176P|TLE4_ENST00000376544.3_Missense_Mutation_p.L176P|TLE4_ENST00000376552.2_Missense_Mutation_p.L176P|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L151P|TLE4_ENST00000455913.1_3'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCAGTGCTCTAGGAGGTCAG	0.542000													11	62					0	0	0.000151284	0	0
TTN	7273	broad.mit.edu	37	2	179437377	179437377	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:179437377A>C	ENST00000589042.1	-	326	73706	c.73482T>G	c.(73480-73482)agT>agG	p.S24494R	TTN_ENST00000342992.6_Missense_Mutation_p.S21926R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15429R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15621R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15554R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22853R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22853	Fibronectin type-III 78.						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)			TATATTTGCCACTGTCAAATC	0.438000													16	55					0	0	0.000958276	0	0
HDAC9	9734	broad.mit.edu	37	7	18631231	18631231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:18631231C>T	ENST00000406451.3	+	5	649	c.499C>T	c.(499-501)Cat>Tat	p.H167Y	HDAC9_ENST00000405010.3_Missense_Mutation_p.H167Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H170Y|HDAC9_ENST00000524023.1_Missense_Mutation_p.H136Y|HDAC9_ENST00000428307.2_Missense_Mutation_p.H167Y|HDAC9_ENST00000456174.2_Missense_Mutation_p.H139Y|HDAC9_ENST00000417496.2_Missense_Mutation_p.H209Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.H170Y|HDAC9_ENST00000406072.1_Missense_Mutation_p.H198Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H167Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	167					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAAAAAATCATTCCGTGAG	0.448000													6	27					0	0	0.000157383	0	0
PCMTD1	115294	broad.mit.edu	37	8	52746112	52746112	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:52746112A>G	ENST00000360540.5	-	5	954	c.548T>C	c.(547-549)gTt>gCt	p.V183A	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V183A|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V107A	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	183						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TATGCCTCCAACTTTTAGTAA	0.383000													7	52					0	0	0.000274275	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748240	19748240	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr13:19748240C>T	ENST00000400113.3	-	5	1220	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	372					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACACAGCCCGCTGCACCTTGG	0.602000													6	36					0	0	3.59834e-05	0	0
OLIG3	167826	broad.mit.edu	37	6	137814843	137814843	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:137814843G>A	ENST00000367734.2	-	1	688	c.465C>T	c.(463-465)caC>caT	p.H155H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGGCCGAGTGGTGGCCCCCAT	0.672000													5	21					0	0	0.000602214	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464633	30464633	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:30464633G>T	ENST00000355904.4	-	6	866	c.584C>A	c.(583-585)cCc>cAc	p.P195H	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	195					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTATCGGGACGATTTAC	0.303000													8	55					7.48243e-07	1.28023e-05	0.000442599	1	0
FLNC	2318	broad.mit.edu	37	7	128478742	128478742	+	Silent	SNP	T	T	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128478742T>C	ENST00000325888.8	+	8	1557	c.1296T>C	c.(1294-1296)ggT>ggC	p.G432G	FLNC_ENST00000346177.6_Silent_p.G432G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	432					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGACAAGGGTGACAGCACGT	0.652000													18	83					0	0	0.00074312	0	0
LIG1	3978	broad.mit.edu	37	19	48619170	48619170	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:48619170C>G	ENST00000263274.7	-	27	3055	c.2636G>C	c.(2635-2637)cGt>cCt	p.R879P	LIG1_ENST00000536218.1_Missense_Mutation_p.R811P|LIG1_ENST00000427526.2_Missense_Mutation_p.R848P	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	879					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGTCTTCACGGACTCGAAT	0.637000								Nucleotide excision repair (NER)					3	10					0	0	6.4e-05	0	0
OR9A2	135924	broad.mit.edu	37	7	142723983	142723983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:142723983C>T	ENST00000350513.2	-	1	299	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	79					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)					CCCAAAGCATCATGGGGACAA	0.478000													6	77					0	0	3.59834e-05	0	0
TEX13A	56157	broad.mit.edu	37	X	104464008	104464008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:104464008C>T	ENST00000413579.1	-	5	979	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.Q290Q|TEX13A_ENST00000372578.3_Silent_p.Q290Q|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	290						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGAAGAGGTTCTGATGAGGCT	0.522000													6	43					0	0	3.59834e-05	0	0
KRT28	162605	broad.mit.edu	37	17	38954573	38954573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:38954573C>T	ENST00000306658.7	-	3	669	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	202	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E202*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCGTCAGCTCGTCCAGGACT	0.498000													12	59					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9059369	9059369	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:9059369C>T	ENST00000397910.4	-	3	28280	c.28077G>A	c.(28075-28077)agG>agA	p.R9359R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9361	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						TTGATTCTTTCCTTGTGAGGG	0.517000													5	68					0	0	0.000602214	0	0
HLF	3131	broad.mit.edu	37	17	53345447	53345447	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:53345447G>C	ENST00000226067.5	+	2	924	c.451_splice	c.e2+1	p.G151_splice	HLF_ENST00000575345.1_Splice_Site_p.G66_splice|HLF_ENST00000573945.1_Splice_Site_p.G66_splice|HLF_ENST00000430986.2_Splice_Site_p.G66_splice	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	151					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CATCAGACCAGGTAAGTGCCC	0.562000			T	TCF3	ALL								5	29					0	0	3.59834e-05	0	0
KRT6A	3853	broad.mit.edu	37	12	52881517	52881517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:52881517C>T	ENST00000330722.6	-	9	1750	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	561	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGCTTATAGCTCTTCCTGCT	0.597000													10	36					0	0	0.000673444	0	0
PLCB4	5332	broad.mit.edu	37	20	9404488	9404488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:9404488C>T	ENST00000378501.2	+	24	2392	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*	PLCB4_ENST00000414679.2_Nonsense_Mutation_p.Q805*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.Q805*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.Q793*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.Q793*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.Q793*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	793					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			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						TGATGGCCTCCAAGCCGGATA	0.443000													7	24					0	0	0.000157383	0	0
VWF	7450	broad.mit.edu	37	12	6103338	6103338	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:6103338G>A	ENST00000261405.5	-	37	6542	c.6288C>T	c.(6286-6288)ttC>ttT	p.F2096F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2096	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			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)	CCCTCAGCATGAAGTCATTGG	0.502000													10	18					0	0	0.000442599	0	0
GPR179	440435	broad.mit.edu	37	17	36486526	36486526	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:36486526G>A	ENST00000342292.4	-	11	2946	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	976						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				actggtgccagggcaggggct	0.617000													4	26					0	0	0.00024832	0	0
TMEM132E	124842	broad.mit.edu	37	17	32959919	32959919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:32959919C>T	ENST00000321639.5	+	7	1737	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	470						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTATCCTCCCCGACCGGAGG	0.592000													10	47					0	0	0.000673444	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	44					0	0	0.000602214	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243475	23243475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:23243475G>A	ENST00000356206.6	-	13	1917	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gtgtttggtggccccatatgg	0.458000													5	55					0	0	3.59834e-05	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049632	69049632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:69049632C>T	ENST00000295381.3	+	10	1777	c.1358C>T	c.(1357-1359)gCt>gTt	p.A453V	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A414V|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A454V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A447V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A446V|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.A147V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTGACATCAGCTTTTCAGGGT	0.478000													17	50					0	0	0.000566183	0	0
PC	5091	broad.mit.edu	37	11	66618334	66618334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:66618334G>A	ENST00000393960.1	-	18	2565	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	PC_ENST00000393958.2_Missense_Mutation_p.R762C|PC_ENST00000393955.2_Missense_Mutation_p.R762C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	762	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TCGGGGAAGCGGTCCCGGAGG	0.657000													5	13					0	0	3.59834e-05	0	0
SGCZ	137868	broad.mit.edu	37	8	14022128	14022128	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:14022128C>G	ENST00000382080.1	-	5	1223	c.508G>C	c.(508-510)Gat>Cat	p.D170H	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.D123H	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	157					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTAATCTCATCTTCATCTGCA	0.413000													5	44					0	0	0.000602214	0	0
LAMB3	3914	broad.mit.edu	37	1	209805978	209805978	+	Missense_Mutation	SNP	G	G	A	rs145575474		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:209805978G>A	ENST00000391911.1	-	7	1161	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	LAMB3_ENST00000356082.4_Missense_Mutation_p.R258C|LAMB3_ENST00000367030.3_Missense_Mutation_p.R258C	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	258	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.R258C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCGCAGCGATCAGCATGG	0.677000													10	28					0	0	0.000978159	0	0
SIRPG	55423	broad.mit.edu	37	20	1616064	1616064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:1616064C>T	ENST00000381580.1	-	4	1010	c.831G>A	c.(829-831)tgG>tgA	p.W277*	SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W310*|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	310	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						ACCAGCTTGTCCAGTTGTAGG	0.547000													6	78					0	0	3.59834e-05	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686225	36686225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:36686225G>A	ENST00000265113.4	+	10	1959	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E450K|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	495					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGATTGTGGAGCACTTGTC	0.517000													7	59					0	0	0.000442599	0	0
TLK2	11011	broad.mit.edu	37	17	60613535	60613535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:60613535G>A	ENST00000326270.9	+	7	636	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.R91Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R123Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R91Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	123					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCCAGCGACGAGTAGAACAG	0.438000													7	25					0	0	0.000274275	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638497	18638497	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:18638497G>A	ENST00000449552.2	+	7	2255	c.771G>A	c.(769-771)ggG>ggA	p.G257G	TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G257G|TRIM16L_ENST00000395672.2_Silent_p.G257G|TRIM16L_ENST00000395671.4_Silent_p.G257G|TRIM16L_ENST00000395902.3_Silent_p.G311G|TRIM16L_ENST00000572555.1_Silent_p.G257G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	257	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						AATGGAACGGGAAGGAGTTCA	0.557000													13	63					0	0	0.000219431	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681103	73681103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:73681103C>T	ENST00000339764.1	+	8	1646	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S	DNAJB13_ENST00000543947.1_Missense_Mutation_p.P124S|DNAJB13_ENST00000537753.1_Missense_Mutation_p.P124S|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	299					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CATCCAGTTCCCCACCCGCCT	0.597000													7	50					0	0	0.000157383	0	0
MTM1	4534	broad.mit.edu	37	X	149807437	149807437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:149807437G>A	ENST00000370396.2	+	7	520	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.E119K|MTM1_ENST00000543350.1_Missense_Mutation_p.E41K|MTM1_ENST00000542741.1_Missense_Mutation_p.E61K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	156					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTAAATGAAGAAAAGTT	0.348000													10	82					0	0	0.000978159	0	0
VASH2	79805	broad.mit.edu	37	1	213134585	213134585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:213134585G>A	ENST00000366968.4	+	4	509	c.159G>A	c.(157-159)atG>atA	p.M53I	VASH2_ENST00000517399.1_Missense_Mutation_p.M118I|VASH2_ENST00000366965.2_Missense_Mutation_p.M118I|VASH2_ENST00000366966.2_Missense_Mutation_p.M53I|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.M14I	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	118					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGAATTACATGAAGACCCTAC	0.542000													23	83					0	0	0.00047179	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964199	147964199	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:147964199C>T	ENST00000361727.3	+	21	3972	c.3456C>T	c.(3454-3456)ctC>ctT	p.L1152L	CNTNAP2_ENST00000538075.1_Silent_p.L211L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1152	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGTCGCTCTTTCTGGGAA	0.408000										HNSCC(39;0.1)			21	71					0	0	0.000175454	0	0
KRT15	3866	broad.mit.edu	37	17	39672200	39672200	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39672200C>T	ENST00000254043.3	-	5	4548	c.963G>A	c.(961-963)gaG>gaA	p.E321E	KRT15_ENST00000393981.3_Silent_p.E156E|KRT15_ENST00000393974.3_Silent_p.E156E|KRT15_ENST00000393976.2_Silent_p.E321E	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	321	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTCTGTGATCTCCGTCTTGC	0.597000													12	101					0	0	0.000151284	0	0
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:72129059G>A	ENST00000340726.3	-	14	1867	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	EYA1_ENST00000388742.4_Missense_Mutation_p.P410S|EYA1_ENST00000388740.3_Missense_Mutation_p.P377S|EYA1_ENST00000388741.2_Missense_Mutation_p.P376S|EYA1_ENST00000419131.1_Missense_Mutation_p.P375S|EYA1_ENST00000303824.7_Missense_Mutation_p.P404S|EYA1_ENST00000388743.2_Missense_Mutation_p.P409S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433000													18	49					0	0	0.00074312	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960047	73960047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73960047G>A	ENST00000373468.1	-	3	4996	c.4345C>T	c.(4345-4347)Cgt>Tgt	p.R1449C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1449C			Q5QGS0	K2022_HUMAN	KIAA2022	1449					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						GATTTGTGACGATACAACTTT	0.453000													12	67					0	0	0.000151284	0	0
PTPN2	5771	broad.mit.edu	37	18	12794451	12794451	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:12794451C>T	ENST00000309660.5	-	9	1167	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Silent_p.K358K|PTPN2_ENST00000591497.1_Silent_p.K329K|PTPN2_ENST00000591115.1_Silent_p.K381K	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	358					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTGTGGTGGCCTTTCTGTCCT	0.423000													11	22					0	0	0.000978159	0	0
HTATSF1	27336	broad.mit.edu	37	X	135584969	135584969	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:135584969G>A	ENST00000535601.1	+	6	1025	c.603G>A	c.(601-603)ttG>ttA	p.L201L	HTATSF1_ENST00000218364.4_Silent_p.L201L	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	201	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAAAACTTTTGGATGAAGATG	0.328000													10	64					0	0	0.00010058	0	0
PSMA6	5687	broad.mit.edu	37	14	35780021	35780021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:35780021C>T	ENST00000261479.4	+	4	449	c.329C>T	c.(328-330)cCt>cTt	p.P110L	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.P91L|PSMA6_ENST00000553809.1_Missense_Mutation_p.P110L|PSMA6_ENST00000555764.1_Missense_Mutation_p.P31L|PSMA6_ENST00000556506.1_Missense_Mutation_p.P110L	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TATGAGATTCCTGTGGACATG	0.423000													5	27					0	0	3.59834e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54685348	54685348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:54685348G>A	ENST00000545554.1	+	17	4816	c.4816G>A	c.(4816-4818)Gat>Aat	p.D1606N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1606N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1604N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1606					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATTGATGAGGATAAAACTGC	0.353000													4	21					0	0	0.000602214	0	0
ZNF436	80818	broad.mit.edu	37	1	23689214	23689214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:23689214G>A	ENST00000314011.4	-	4	797	c.661C>T	c.(661-663)Cct>Tct	p.P221S	ZNF436_ENST00000374609.1_Missense_Mutation_p.P221S|ZNF436_ENST00000374608.3_Missense_Mutation_p.P221S	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATTTGTGAGGCTTCTCTCCA	0.463000													19	56					0	0	0.000175454	0	0
GLP2R	9340	broad.mit.edu	37	17	9760794	9760794	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:9760794C>T	ENST00000262441.5	+	6	1179	c.666C>T	c.(664-666)atC>atT	p.I222I	GLP2R_ENST00000574745.1_Silent_p.I42I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	222					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTTCTTTCATCCTGAGAACCC	0.493000													7	36					0	0	8.12818e-05	0	0
PREX2	80243	broad.mit.edu	37	8	68995598	68995598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:68995598G>A	ENST00000288368.4	+	18	2279	c.2002G>A	c.(2002-2004)Gtt>Att	p.V668I	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	668	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTCTAAGAGTTCTTGTGAG	0.313000													10	43					0	0	0.000673444	0	0
PET112	5188	broad.mit.edu	37	4	152593947	152593947	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:152593947G>A	ENST00000263985.6	-	12	1552	c.1512C>T	c.(1510-1512)ctC>ctT	p.L504L	PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Silent_p.L463L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	504						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGAGTGGCAGAGCTGCTCCA	0.587000													7	21					0	0	0.000157383	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964200	147964200	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:147964200T>A	ENST00000361727.3	+	21	3973	c.3457T>A	c.(3457-3459)Ttt>Att	p.F1153I	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.F212I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1153	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAAGTCGCTCTTTCTGGGAAA	0.408000										HNSCC(39;0.1)			21	70					0	0	0.000229342	0	0
GPR50	9248	broad.mit.edu	37	X	150348809	150348809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:150348809C>T	ENST00000218316.3	+	2	823	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	252					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGTGCCCTATCAACGT	0.512000													10	55					0	0	0.000978159	0	0
ANK3	288	broad.mit.edu	37	10	61819111	61819111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:61819111G>A	ENST00000280772.1	-	41	12864	c.12673C>T	c.(12673-12675)Cga>Tga	p.R4225*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1716*|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R849*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1709*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4225					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						TCATCCAGTCGATCTAGTAAC	0.398000													9	72					0	0	0.000442599	0	0
USH2A	7399	broad.mit.edu	37	1	216420487	216420487	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:216420487T>C	ENST00000366943.2	-	13	2635	c.2249A>G	c.(2248-2250)aAc>aGc	p.N750S	USH2A_ENST00000366942.3_Missense_Mutation_p.N750S|USH2A_ENST00000307340.3_Missense_Mutation_p.N750S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	750	Laminin EGF-like 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)		GCCATGGAGGTTACACTGGCA	0.413000										HNSCC(13;0.011)			24	64					0	0	0.000586117	0	0
DNAH5	1767	broad.mit.edu	37	5	13841027	13841027	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:13841027G>A	ENST00000265104.4	-	34	5801	c.5697C>T	c.(5695-5697)atC>atT	p.I1899I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1899	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I1899M(1)		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)					GGTCATCAAAGATATCCCTTT	0.383000									Kartagener syndrome				5	25					0	0	0.000602214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				7	49					0	0	0.000157383	0	0
TLE3	7090	broad.mit.edu	37	15	70368486	70368486	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:70368486C>T	ENST00000558939.1	-	5	1623	c.246G>A	c.(244-246)gcG>gcA	p.A82A	TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Silent_p.A82A|TLE3_ENST00000559048.1_Silent_p.A88A|TLE3_ENST00000557997.1_Silent_p.A82A|TLE3_ENST00000557907.1_Silent_p.A82A|TLE3_ENST00000539550.1_Silent_p.A16A|TLE3_ENST00000560589.1_Silent_p.A26A|TLE3_ENST00000558379.1_Silent_p.A82A|TLE3_ENST00000558201.1_Silent_p.A88A|TLE3_ENST00000442299.2_Silent_p.A82A|TLE3_ENST00000440567.3_Silent_p.A75A|TLE3_ENST00000559929.1_Silent_p.A82A|TLE3_ENST00000560939.1_Silent_p.A88A|TLE3_ENST00000451782.2_Silent_p.A82A			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	82	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTCTCTTCGCAATCTCTG	0.423000													9	77					0	0	0.00010058	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174358	72174358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:72174358C>T	ENST00000537465.1	-	6	918	c.760G>A	c.(760-762)Gat>Aat	p.D254N	PMFBP1_ENST00000237353.10_Missense_Mutation_p.D254N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.D109N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	254										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGAATGAGATCATCCTGTTGA	0.448000													15	156					0	0	0.000308642	0	0
CPE	1363	broad.mit.edu	37	4	166416768	166416768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:166416768C>G	ENST00000402744.4	+	8	1551	c.1271C>G	c.(1270-1272)tCa>tGa	p.S424*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	424					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)	CTTACAGCCTCAGCTCCAGGC	0.393000													8	65					0	0	0.000274275	0	0
ZNF568	374900	broad.mit.edu	37	19	37428087	37428087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:37428087G>A	ENST00000415168.1	+	4	485	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF568_ENST00000333987.7_Missense_Mutation_p.E101K|ZNF568_ENST00000455427.2_Missense_Mutation_p.E37K|ZNF568_ENST00000427117.1_Missense_Mutation_p.E101K	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAAGTTGGAGCAAGAAGA	0.453000													5	37					0	0	3.59834e-05	0	0
PKHD1	5314	broad.mit.edu	37	6	51774107	51774107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:51774107G>A	ENST00000371117.3	-	40	6931	c.6656C>T	c.(6655-6657)tCa>tTa	p.S2219L	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2219L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2219					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)					CAGAGTGAGTGAGCTCAGATG	0.512000													10	47					0	0	0.000978159	0	0
NKAP	79576	broad.mit.edu	37	X	119072753	119072753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:119072753C>T	ENST00000371410.3	-	2	573	c.407G>A	c.(406-408)aGa>aAa	p.R136K		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTCTCCAATTCTCTCTCTCTC	0.318000													9	78					0	0	0.000274275	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122474149	122474149	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:122474149G>A	ENST00000306103.2	-	5	842	c.699C>T	c.(697-699)ttC>ttT	p.F233F	HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	233	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAGCTTTCCGGAACTGAGGAA	0.418000													8	36					0	0	0.000274275	0	0
EXPH5	23086	broad.mit.edu	37	11	108381787	108381787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:108381787C>T	ENST00000265843.4	-	6	4557	c.4447G>A	c.(4447-4449)Gaa>Aaa	p.E1483K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E1295K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1476K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1407K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1483					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTCTGCCTTCCCTAGGCTGT	0.473000													5	28					0	0	0.000602214	0	0
IFT122	55764	broad.mit.edu	37	3	129237958	129237958	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:129237958A>G	ENST00000296266.3	+	29	3745	c.3553A>G	c.(3553-3555)Att>Gtt	p.I1185V	IFT122_ENST00000507564.1_Missense_Mutation_p.I1127V|IFT122_ENST00000349441.2_Missense_Mutation_p.I1024V|IFT122_ENST00000347300.2_Missense_Mutation_p.I1075V|IFT122_ENST00000440957.2_Missense_Mutation_p.I925V|IFT122_ENST00000348417.2_Missense_Mutation_p.I1134V|IFT122_ENST00000431818.2_Missense_Mutation_p.I984V|IFT122_ENST00000504021.1_Missense_Mutation_p.I1011V	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1134					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGGCTCCCAGATTCTGCGGCT	0.572000													8	60					0	0	0.000978159	0	0
AKNAD1	254268	broad.mit.edu	37	1	109363229	109363229	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:109363229C>T	ENST00000370001.3	-	14	2455	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R		NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	729										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GAGAACAGATCCGTTTGGGTT	0.333000													12	40					0	0	0.000151284	0	0
FMO2	2327	broad.mit.edu	37	1	171162617	171162617	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:171162617G>A	ENST00000441535.1	+	3	393	c.276G>A	c.(274-276)agG>agA	p.R92R	RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.R92R	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	92					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATATTTCAGGATTTTTGCTA	0.338000													11	25					0	0	0.00010058	0	0
ABCB1	5243	broad.mit.edu	37	7	87196132	87196132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:87196132C>T	ENST00000265724.3	-	7	916	c.499G>A	c.(499-501)Gat>Aat	p.D167N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	167	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCCCAACATCGTGCACATCA	0.383000													5	45					0	0	0.000602214	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052010	36052010	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:36052010C>T	ENST00000282507.3	-	3	374	c.273G>A	c.(271-273)aaG>aaA	p.K91K	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.K57K|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	91						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCAAAACTCTTTTTAAATT	0.303000													4	38					0	0	0.00024832	0	0
TMEM257	9142	broad.mit.edu	37	X	144909378	144909378	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:144909378T>A	ENST00000408967.2	+	1	451	c.183T>A	c.(181-183)ttT>ttA	p.F61L		NM_004709.2	NP_004700.1			transmembrane protein 257																		TTTTTATTTTTATCTTCCACA	0.353000													8	61					0	0	0.000673444	0	0
GCN1L1	10985	broad.mit.edu	37	12	120585034	120585034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:120585034C>T	ENST00000300648.6	-	38	4781	c.4769G>A	c.(4768-4770)aGg>aAg	p.R1590K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1590					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGTCTTCCTGGAGGGATC	0.557000													6	16					0	0	3.59834e-05	0	0
CXXC1	30827	broad.mit.edu	37	18	47808968	47808968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr18:47808968G>A	ENST00000285106.6	-	15	2680	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	CXXC1_ENST00000412036.2_Missense_Mutation_p.R660C|CXXC1_ENST00000589940.1_3'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	656					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GAGGCTCAGCGGTCGGCACTG	0.652000													20	53					0	0	0.000295444	0	0
SIRPG	55423	broad.mit.edu	37	20	1616065	1616065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:1616065C>T	ENST00000381580.1	-	4	1009	c.830G>A	c.(829-831)tGg>tAg	p.W277*	SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W310*|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	310	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCAGCTTGTCCAGTTGTAGGT	0.542000													6	78					0	0	3.59834e-05	0	0
RIPK3	11035	broad.mit.edu	37	14	24805428	24805428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:24805428C>T	ENST00000216274.5	-	10	1728	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RP11-934B9.3_ENST00000555591.1_Intron	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	504					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CTCCAGGCTTCAGGATCTTTA	0.567000													5	45					0	0	0.000602214	0	0
CAPSL	133690	broad.mit.edu	37	5	35910623	35910623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:35910623C>T	ENST00000397367.2	-	3	286	c.160G>A	c.(160-162)Gat>Aat	p.D54N	CAPSL_ENST00000397366.1_Missense_Mutation_p.D54N|CAPSL_ENST00000514524.1_Missense_Mutation_p.D54N	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	54	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGATTATTATCGTCATCCATA	0.313000													6	33					0	0	3.59834e-05	0	0
BSN	8927	broad.mit.edu	37	3	49679978	49679978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:49679978C>T	ENST00000296452.4	+	3	1025	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	304					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)		AGGGTGTCTCCTCAGCCCCCT	0.701000													5	8					0	0	3.59834e-05	0	0
TAGAP	117289	broad.mit.edu	37	6	159457477	159457477	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:159457477C>T	ENST00000367066.3	-	10	1909	c.1578G>A	c.(1576-1578)gcG>gcA	p.A526A	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.A348A|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	526					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCCCAGAGCCCGCGCTGAGGT	0.527000													9	51					0	0	0.000442599	0	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:183095762C>T	ENST00000435564.1	-	5	762	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D188N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000482538.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D188N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338000													17	56					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179431326	179431326	+	Silent	SNP	G	G	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:179431326G>T	ENST00000589042.1	-	326	79757	c.79533C>A	c.(79531-79533)ccC>ccA	p.P26511P	TTN_ENST00000342992.6_Silent_p.P23943P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.P17446P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.P17638P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P17571P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P24870P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24870							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)			CATCATAGATGGGTTTACCCC	0.438000													7	157					0.000157383	0.00267647	0.000157383	1	0
PRSS21	10942	broad.mit.edu	37	16	2871436	2871436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:2871436G>A	ENST00000455114.1	+	6	875	c.769G>A	c.(769-771)Gga>Aga	p.G257R	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.G245R|PRSS21_ENST00000005995.3_Missense_Mutation_p.G259R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	259	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CGTGAGCTGGGGAGTGGGCTG	0.597000													8	19					0	0	0.000157383	0	0
API5	8539	broad.mit.edu	37	11	43364103	43364103	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:43364103A>G	ENST00000534695.1	+	4	437	c.272A>G	c.(271-273)tAc>tGc	p.Y91C	API5_ENST00000455725.2_3'UTR|API5_ENST00000531273.1_3'UTR|API5_ENST00000378852.3_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_3'UTR			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	0					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGCTTAATATACTTAAATTCT	0.418000													3	29					0	0	6.4e-05	0	0
HSF5	124535	broad.mit.edu	37	17	56565428	56565428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:56565428C>T	ENST00000323777.3	-	1	317	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGAAGAGCTCGGGCTcggcc	0.721000													5	22					0	0	3.59834e-05	0	0
PSMA6	5687	broad.mit.edu	37	14	35780020	35780020	+	Missense_Mutation	SNP	C	C	T	rs78322008		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:35780020C>T	ENST00000261479.4	+	4	448	c.328C>T	c.(328-330)Cct>Tct	p.P110S	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.P91S|PSMA6_ENST00000553809.1_Missense_Mutation_p.P110S|PSMA6_ENST00000555764.1_Missense_Mutation_p.P31S|PSMA6_ENST00000556506.1_Missense_Mutation_p.P110S	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CTATGAGATTCCTGTGGACAT	0.423000													5	27					0	0	3.59834e-05	0	0
KRT13	3860	broad.mit.edu	37	17	39661352	39661352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr17:39661352C>T	ENST00000246635.3	-	1	497	c.451G>A	c.(451-453)Gac>Aac	p.D151N	KRT13_ENST00000336861.3_Missense_Mutation_p.D151N|KRT13_ENST00000587544.1_Missense_Mutation_p.D151N	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	151	Linker 1.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCTGTAGTCCCGCTCAGGG	0.622000													4	34					0	0	0.00024832	0	0
PC	5091	broad.mit.edu	37	11	66618319	66618319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:66618319G>A	ENST00000393960.1	-	18	2580	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	PC_ENST00000393958.2_Missense_Mutation_p.P767S|PC_ENST00000393955.2_Missense_Mutation_p.P767S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	767	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGTGCAGTGGGAGGTCGGGG	0.662000													5	14					0	0	3.59834e-05	0	0
CEP350	9857	broad.mit.edu	37	1	179989667	179989667	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:179989667A>G	ENST00000367607.3	+	12	3176	c.2758A>G	c.(2758-2760)Aaa>Gaa	p.K920E		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	920						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTGAATTTAAAAAGCTTCC	0.428000													12	31					0	0	0.00010058	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822881	56822881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:56822881G>A	ENST00000229201.4	-	11	1241	c.1087C>T	c.(1087-1089)Cac>Tac	p.H363Y	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.H364Y	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	364					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGAAGCAGGTGATCCTGACAT	0.488000													5	14					0	0	0.000602214	0	0
MCUR1	63933	broad.mit.edu	37	6	13802496	13802496	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:13802496A>T	ENST00000379170.4	-	3	756	c.618T>A	c.(616-618)gaT>gaA	p.D206E		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		TGGTGACCATATCTTTGTAGA	0.408000													8	42					0	0	0.000274275	0	0
ITIH3	3699	broad.mit.edu	37	3	52836750	52836750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:52836750G>A	ENST00000449956.2	+	13	1643	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCAGGAGCGGGACTACATC	0.607000													10	32					0	0	0.000978159	0	0
POC1A	25886	broad.mit.edu	37	3	52130714	52130714	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:52130714G>A	ENST00000296484.2	-	10	1035	c.996C>T	c.(994-996)ttC>ttT	p.F332F	POC1A_ENST00000474012.1_Silent_p.F294F|POC1A_ENST00000394970.2_Intron	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	332						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GGGGGACAGGGAAGTCCACTT	0.542000													10	57					0	0	0.00010058	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587453	120587453	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr12:120587453G>A	ENST00000300648.6	-	36	4515	c.4503C>T	c.(4501-4503)tcC>tcT	p.S1501S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1501					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCCAGTAAGGAGGGGAGCA	0.572000													4	31					0	0	0.000602214	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555957	76555957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:76555957C>T	ENST00000307431.8	+	18	2940	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S856L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S804L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S780L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	853	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGACTTTTTCATTTGATGTG	0.448000													13	115					0	0	0.000422831	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492171	20492171	+	Silent	SNP	G	G	A	rs149737523		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:20492171G>A	ENST00000573854.1	+	12	1551	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	ACSM2A_ENST00000536134.1_Silent_p.E251E|ACSM2A_ENST00000396104.2_Silent_p.E479E|ACSM2A_ENST00000219054.6_Silent_p.E479E|ACSM2A_ENST00000575690.1_Silent_p.E479E|ACSM2A_ENST00000417235.2_Silent_p.E400E|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	479					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.E479E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGGAGGTAGAGAATGCACTGA	0.587000													6	33					0	0	0.000157383	0	0
FBN2	2201	broad.mit.edu	37	5	127863582	127863582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr5:127863582C>T	ENST00000508053.1	-	10	1489	c.515G>A	c.(514-516)gGa>gAa	p.G172E	FBN2_ENST00000508989.1_Missense_Mutation_p.G139E|FBN2_ENST00000262464.4_Missense_Mutation_p.G172E			P35556	FBN2_HUMAN	fibrillin 2	172	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAATAAGTTCCAATATATCC	0.373000													7	34					0	0	0.000157383	0	0
ROBO2	6092	broad.mit.edu	37	3	77629266	77629266	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:77629266A>T	ENST00000461745.1	+	16	3397	c.2497A>T	c.(2497-2499)Atc>Ttc	p.I833F	ROBO2_ENST00000487694.3_Missense_Mutation_p.I849F|ROBO2_ENST00000332191.8_Missense_Mutation_p.I833F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	833					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCAATAATAATCGGTGAGTA	0.413000													7	53					0	0	0.000157383	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	28					0	0	0.000602214	0	0
BSPRY	54836	broad.mit.edu	37	9	116132413	116132413	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr9:116132413C>T	ENST00000374183.4	+	6	1239	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	400	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCATTTCTATCGTCCGCTGAC	0.577000													8	29					0	0	0.000157383	0	0
CCHCR1	54535	broad.mit.edu	37	6	31124632	31124632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr6:31124632G>A	ENST00000396268.3	-	3	561	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.P36S|CCHCR1_ENST00000396263.2_Missense_Mutation_p.P36S	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	36					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGACCAGGGGAATGTCTGAG	0.562000													10	59					0	0	0.000978159	0	0
TMEM63C	57156	broad.mit.edu	37	14	77718139	77718139	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr14:77718139C>T	ENST00000298351.4	+	22	2190	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	682						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CAGGTTCTCTCCACGCCATCA	0.572000													5	37					0	0	3.59834e-05	0	0
NFXL1	152518	broad.mit.edu	37	4	47907310	47907310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr4:47907310G>A	ENST00000507489.1	-	4	636	c.460C>T	c.(460-462)Caa>Taa	p.Q154*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q154*|NFXL1_ENST00000329043.3_Nonsense_Mutation_p.Q154*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	154						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GCCCCTGCTTGAAAAGCTTCA	0.338000													7	72					0	0	0.000157383	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350451	51350451	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:51350451A>T	ENST00000327536.5	-	3	605	c.506T>A	c.(505-507)tTa>tAa	p.L169*	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	169										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CACCTTGATTAAGTCTTTCAT	0.463000													13	112					0	0	0.000308642	0	0
ITIH5	80760	broad.mit.edu	37	10	7679332	7679332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:7679332C>T	ENST00000256861.6	-	5	589	c.511G>A	c.(511-513)Gag>Aag	p.E171K	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E171K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E171K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	171					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCTGTGCTCGTACTTGCCC	0.592000													6	36					0	0	3.59834e-05	0	0
ABL2	27	broad.mit.edu	37	1	179100501	179100501	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:179100501G>A	ENST00000502732.1	-	3	539	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ABL2_ENST00000344730.3_Silent_p.F97F|ABL2_ENST00000511413.1_Silent_p.F112F|ABL2_ENST00000408940.3_Silent_p.F76F|ABL2_ENST00000507173.1_Silent_p.F91F|ABL2_ENST00000367623.4_Silent_p.F91F|ABL2_ENST00000512653.1_Silent_p.F97F|ABL2_ENST00000392043.3_Silent_p.F91F|ABL2_ENST00000504405.1_Silent_p.F76F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	112	SH3.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAAGTGCAACGAAGAGATTAG	0.443000			T	ETV6	AML								5	19					0	0	0.000602214	0	0
KCNB1	3745	broad.mit.edu	37	20	48098561	48098561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:48098561C>T	ENST00000371741.4	-	1	623	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	153					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGTAGGGTCTCGGCCTCACGC	0.577000													6	58					0	0	3.59834e-05	0	0
ITGAM	3684	broad.mit.edu	37	16	31284771	31284771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr16:31284771G>A	ENST00000544665.3	+	8	861	c.790G>A	c.(790-792)Gat>Aat	p.D264N	ITGAM_ENST00000287497.8_Missense_Mutation_p.D264N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	264	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAAGTTTGGCGATCCCTTGGG	0.498000													6	36					0	0	3.59834e-05	0	0
LONRF2	164832	broad.mit.edu	37	2	100925677	100925677	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr2:100925677A>T	ENST00000393437.3	-	2	1329	c.690T>A	c.(688-690)gaT>gaA	p.D230E	LONRF2_ENST00000409647.1_5'UTR	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	230					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ATAATGAATTATCATCAGGAG	0.358000													10	38					0	0	0.000442599	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032614	46032614	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr21:46032614C>T	ENST00000334662.2	+	1	619	c.597C>T	c.(595-597)acC>acT	p.T199T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	199	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTTGCTGCACCACCTCCTGCT	0.652000													17	78					0	0	0.000566183	0	0
S100A7A	338324	broad.mit.edu	37	1	153391621	153391621	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:153391621G>A	ENST00000368729.4	+	3	199	c.141_splice	c.e3-1	p.D48_splice	S100A7A_ENST00000368728.2_Splice_Site_p.D48_splice|S100A7A_ENST00000329256.2_Splice_Site_p.D48_splice	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	48	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTCACAGGACAAAAAGGG	0.408000													6	22					0	0	3.59834e-05	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													8	21					0	0	0.000157383	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691392	157691392	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:157691392C>T	ENST00000389413.3	-	11	1777	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	PTPRN2_ENST00000389418.4_Silent_p.L587L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000404321.2_Silent_p.L610L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	587						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)		GAAGAATTTTCAGTCCAGAGG	0.522000													16	149					0	0	0.000566183	0	0
FLNC	2318	broad.mit.edu	37	7	128489398	128489398	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128489398C>T	ENST00000325888.8	+	30	5226	c.4965C>T	c.(4963-4965)ggC>ggT	p.G1655G	FLNC_ENST00000346177.6_Silent_p.G1655G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1655					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGCCTGGGCCCTCGAATCC	0.677000													6	30					0	0	3.59834e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960458	73960458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:73960458C>T	ENST00000373468.1	-	3	4585	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1312K			Q5QGS0	K2022_HUMAN	KIAA2022	1312					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						TCCTGAAATTCCCGTTGGTCA	0.522000													9	86					0	0	0.000274275	0	0
ROBO3	64221	broad.mit.edu	37	11	124745136	124745136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:124745136C>T	ENST00000397801.1	+	14	2395	c.2203C>T	c.(2203-2205)Cct>Tct	p.P735S	ROBO3_ENST00000538940.1_Missense_Mutation_p.P713S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	735	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AAGAGGACTCCCTCCAGGGAC	0.582000													5	57					0	0	0.000602214	0	0
GRIA3	2892	broad.mit.edu	37	X	122538614	122538614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:122538614G>A	ENST00000264357.5	+	10	1641	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	GRIA3_ENST00000371251.1_Missense_Mutation_p.R450Q|GRIA3_ENST00000541091.1_Missense_Mutation_p.R434Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R450Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R450Q	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	450			R -> Q (in MRX94).		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)	GGAAATGAACGATATGAAGGC	0.388000													8	32					0	0	0.000274275	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665948	19665948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:19665948G>A	ENST00000328041.6	+	12	1464	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	423	Poly-Glu.					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						gaatgatgaggaggaagagga	0.527000													8	38					0	0	0.000157383	0	0
TNR	7143	broad.mit.edu	37	1	175362984	175362984	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:175362984T>C	ENST00000367674.1	-	6	1996	c.1288A>G	c.(1288-1290)Acc>Gcc	p.T430A	TNR_ENST00000263525.2_Missense_Mutation_p.T430A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	430	Fibronectin type-III 2.				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)					ACCTCCACGGTGGTCTCTGTG	0.493000													11	99					0	0	0.000673444	0	0
OR52N2	390077	broad.mit.edu	37	11	5842271	5842271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:5842271C>T	ENST00000317037.2	+	1	728	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGATGCTCGTCACAAAGC	0.428000													6	64					0	0	3.59834e-05	0	0
C10orf120	399814	broad.mit.edu	37	10	124457771	124457771	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr10:124457771C>T	ENST00000329446.4	-	3	517	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	162										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TACTGACGTTCACCTGCTCTC	0.468000													12	76					0	0	0.00010058	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654957	161654957	+	RNA	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:161654957G>A	ENST00000426558.1	-	0	85					NR_002595.1																						GTTGATGGCAGAACGGCCCTT	0.547000													6	9					0	0	3.59834e-05	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6974614	6974614	+	RNA	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:6974614C>T	ENST00000600751.1	-	0	768					NR_024075.1																						CATCCCTTTTCGTTTACTAAA	0.403000													7	16					0	0	0.000442599	0	0
SDF4	51150	broad.mit.edu	37	1	1153955	1153955	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr1:1153955G>A	ENST00000263741.7	-	6	1087	c.795C>T	c.(793-795)acC>acT	p.T265T	SDF4_ENST00000360001.6_Silent_p.T265T	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	265	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GGTTCTCCACGGTGCCCACGG	0.592000													9	21					0	0	0.000274275	0	0
SLC24A3	57419	broad.mit.edu	37	20	19673952	19673952	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr20:19673952C>T	ENST00000328041.6	+	13	1571	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	458						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						CGCTGAGTTTCGTCTTATACT	0.458000											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	3.59834e-05	0	0
THSD4	79875	broad.mit.edu	37	15	71447214	71447214	+	Silent	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:71447214C>T	ENST00000355327.3	+	3	176	c.42C>T	c.(40-42)ttC>ttT	p.F14F	THSD4_ENST00000261862.6_Silent_p.F14F|RP11-673C5.2_ENST00000561571.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	14						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						TCCTGTGTTTCCTTCTGCTGC	0.542000													9	50					0	0	0.000673444	0	0
BSX	390259	broad.mit.edu	37	11	122852195	122852195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:122852195G>A	ENST00000343035.2	-	1	233	c.185C>T	c.(184-186)cCc>cTc	p.P62L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	62										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAAGAGGGTGGGTGTGGGCAT	0.587000													3	4					0	0	6.4e-05	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000													6	42					0	0	8.12818e-05	0	0
ZNF112	7665	broad.mit.edu	37	19	44833712	44833712	+	Missense_Mutation	SNP	G	G	A	rs144019017		TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:44833712G>A	ENST00000354340.4	-	4	649	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	ZNF112_ENST00000536500.1_Missense_Mutation_p.H223Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H206Y	NM_013380.3	NP_037512.3			zinc finger protein 112									p.H200Y(1)									TTACAGAAATGATTTTTCATG	0.393000													7	66					0	0	8.12818e-05	0	0
ZNF226	7769	broad.mit.edu	37	19	44681046	44681046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr19:44681046C>T	ENST00000590089.1	+	7	1998	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S544L|ZNF226_ENST00000454662.2_Missense_Mutation_p.S544L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCAAAGTTCGTATCTTCAA	0.443000													12	87					0	0	0.000151284	0	0
HLTF	6596	broad.mit.edu	37	3	148759958	148759958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr3:148759958G>A	ENST00000310053.5	-	19	2385	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L	HLTF_ENST00000392912.2_Missense_Mutation_p.P731L|HLTF_ENST00000465259.1_Missense_Mutation_p.P730L|HLTF_ENST00000494055.1_Missense_Mutation_p.P731L	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	731					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTACCTGAGGGGCCATTGGA	0.363000													7	38					0	0	0.000274275	0	0
LOC645752	645752	broad.mit.edu	37	15	78211577	78211577	+	RNA	SNP	C	C	T			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr15:78211577C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTTCCACCTCCTGCCTCAGG	0.552000													10	70					0	0	0.000673444	0	0
BRSK2	9024	broad.mit.edu	37	11	1467078	1467078	+	Silent	SNP	G	G	A			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:1467078G>A	ENST00000308219.9	+	12	1553	c.1167G>A	c.(1165-1167)acG>acA	p.T389T	BRSK2_ENST00000544817.1_Silent_p.T84T|BRSK2_ENST00000382179.1_Silent_p.T435T|BRSK2_ENST00000526678.1_Silent_p.T389T|BRSK2_ENST00000531197.1_Silent_p.T389T|BRSK2_ENST00000528841.1_Silent_p.T389T|BRSK2_ENST00000528710.1_Silent_p.T329T|BRSK2_ENST00000308230.5_Silent_p.T389T	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	389					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCAGCGTGACGGACGGCGGCT	0.701000													5	28					0	0	0.000602214	0	0
MROH5	389690	broad.mit.edu	37	8	142517137	142517138	+	RNA	INS	-	-	T	rs56233552	by1000genomes	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr8:142517137_142517138insT	ENST00000430863.1	-	0	161					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CGGTGGGGGGGGGTCAGGGGGT	0.658													4	9	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													3	6	---	---	---	---					
SLC6A14	11254	broad.mit.edu	37	X	115588915	115588915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2M8-06A-12D-A196-08	TCGA-EE-A2M8-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8992de16-80d2-47d7-8d81-4ae0b9f2376e	e2077d51-fd1e-4a43-b100-9b58efdff71d	g.chrX:115588915delA	ENST00000371900.4	+	13	1843	c.1755delA	c.(1753-1755)atfs	p.I586fs	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	586					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCATAAAAATAATTCAGGCTA	0.333													23	151	---	---	---	---					
