Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DNHD1	144132	broad.mit.edu	37	11	6592281	6592281	+	Silent	SNP	A	C	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:6592281A>C	uc001mdw.4	+	41	14103	c.13539A>C	c.(13537-13539)gcA>gcC	p.A4513A	DNHD1_uc001mea.4_Silent_p.A782A|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Silent_p.A781A|DNHD1_uc010rao.2_Silent_p.A771A|DNHD1_uc009yfg.3_Silent_p.A138A	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4513					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAAGGGCGCACCCCCGTGCC	0.677000														25			7		0	0	0.006214	0	0
C15orf42	90381	broad.mit.edu	37	15	90170259	90170260	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:90170259_90170260CC>AA	uc002boe.3	+	21	5675_5676	c.5675_5676CC>AA	c.(5674-5676)ccc>cAA	p.P1892Q	C15orf42_uc021sug.1_Missense_Mutation_p.P1891Q	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1892					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGAGGCGCCCCATCAGCAGAA	0.500000														138			7		0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	3081381	3081381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:3081381C>T	uc022aqr.1	-	27	4744	c.4354G>A	c.(4354-4356)Gga>Aga	p.G1452R	CSMD1_uc011kwj.2_Missense_Mutation_p.G845R|CSMD1_uc003wqe.3_Missense_Mutation_p.G609R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1453	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGATTCCCTCCACAAGCAGCT	0.493000														13			5		0	0	0.001168	0	0
C10orf137	26098	broad.mit.edu	37	10	127412503	127412503	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:127412503C>T	uc001liq.1	+	3	801	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	C10orf137_uc001lin.3_Nonsense_Mutation_p.Q170*|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Nonsense_Mutation_p.Q170*	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.Q170*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGATCGTCTCAGGTAATGCT	0.398000														15			22		0	0	0.002299	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489978	123489978	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:123489978G>T	uc001uej.1	-	5	960	c.761C>A	c.(760-762)tCc>tAc	p.S254Y	PITPNM2_uc001uek.1_Missense_Mutation_p.S254Y|PITPNM2_uc009zxu.1_Missense_Mutation_p.S254Y	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	254					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATCTTACGGGAAAGCATGAG	0.637000														64			33		1.22384e-17	1.09514e-16	0.002836	1	0
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr19:35757850C>T	uc002nyl.3	+	7	1491	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622000														24			10		0	0	0.001368	0	0
PPP6C	5537	broad.mit.edu	37	9	127933365	127933365	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:127933365T>A	uc010mwv.3	-	3	503	c.282_splice	c.e3+1	p.Q94_splice	PPP6C_uc004bpg.4_Splice_Site_p.Q57_splice|PPP6C_uc010mww.3_Splice_Site_p.Q57_splice|PPP6C_uc011lzr.2_Splice_Site	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	57					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAATTTTACCTGTCCATGGAT	0.378000														28			81		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346636	140346636	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:140346636G>A	uc003lii.3	+	0	890	c.285G>A	c.(283-285)acG>acA	p.T95T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.T95T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	95	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTGACGAGTGGAGCGC	0.677000														6			28		0	0	0.005443	0	0
APOB	338	broad.mit.edu	37	2	21232428	21232428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:21232428C>T	uc002red.3	-	25	7440	c.7312G>A	c.(7312-7314)Gaa>Aaa	p.E2438K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2438					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATTGGTTTCATCTACAAAC	0.323000														270			332		0	0	0.003610	0	0
PHKB	5257	broad.mit.edu	37	16	47722962	47722962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:47722962C>T	uc002eev.4	+	26	2693	c.2641C>T	c.(2641-2643)Cat>Tat	p.H881Y	PHKB_uc002eeu.4_Missense_Mutation_p.H874Y|PHKB_uc002eew.4_Missense_Mutation_p.H122Y	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	881					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGGATCATCCATGCCATGGA	0.448000														29			16		0	0	0.006122	0	0
PLCL1	5334	broad.mit.edu	37	2	198950307	198950307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:198950307G>A	uc010fsp.3	+	1	2464	c.2066G>A	c.(2065-2067)gGg>gAg	p.G689E	PLCL1_uc002uuv.4_Missense_Mutation_p.G610E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	689	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTTCAAAACGGGGGATGTGGT	0.468000														71			34		0	0	0.003755	0	0
WASF1	8936	broad.mit.edu	37	6	110423339	110423339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:110423339G>A	uc003ptv.1	-	9	1811	c.974C>T	c.(973-975)cCa>cTa	p.P325L	WASF1_uc003ptw.1_Missense_Mutation_p.P325L|WASF1_uc003ptx.1_Missense_Mutation_p.P325L|WASF1_uc003pty.1_Missense_Mutation_p.P325L	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	325	Poly-Pro.				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TGGAGGAGGTGGGGGAGTGGG	0.517000														46			31		0	0	0.003755	0	0
FAM214A	56204	broad.mit.edu	37	15	52901077	52901077	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:52901077G>A	uc010ugf.2	-	4	2189	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	FAM214A_uc002acg.4_Silent_p.S678S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.S590S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	678																	CATTTTTTTTGGAATCATCAG	0.284000														33			18		0	0	0.004990	0	0
SVIL	6840	broad.mit.edu	37	10	29812856	29812856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:29812856G>A	uc001iut.1	-	14	3440	c.2687C>T	c.(2686-2688)aCa>aTa	p.T896I	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.T470I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	896					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGGTGGCTTTGTGCGAAGATC	0.463000														21			33		0	0	0.002836	0	0
SGSM1	129049	broad.mit.edu	37	22	25264413	25264413	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:25264413G>A	uc003abg.2	+	10	1222	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	SGSM1_uc010guu.1_Silent_p.K355K|SGSM1_uc003abh.2_Silent_p.K355K|SGSM1_uc003abj.2_Silent_p.K355K|SGSM1_uc003abi.1_Silent_p.K330K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	355						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCTTCCCCAAGGGCGGGCACC	0.652000														42			13		0	0	0.002450	0	0
NEK4	6787	broad.mit.edu	37	3	52773466	52773466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:52773466G>A	uc003dfq.4	-	13	2481	c.2278C>T	c.(2278-2280)Cat>Tat	p.H760Y	NEK4_uc011bej.2_Missense_Mutation_p.H671Y|NEK4_uc003dfr.3_Missense_Mutation_p.H714Y	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	760					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTTTAAAATGGATTTCCTCT	0.438000														50			36		0	0	0.005524	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														5			3		0	0	0.004672	0	0
L2HGDH	79944	broad.mit.edu	37	14	50713919	50713919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr14:50713919C>T	uc001wxu.3	-	9	1328	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	L2HGDH_uc010tqn.2_Intron|L2HGDH_uc010tqo.1_Missense_Mutation_p.E417K	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	417					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ACAAAATCTTCTACCAGATTT	0.453000														20			9		0	0	0.006214	0	0
ABCB5	340273	broad.mit.edu	37	7	20795159	20795159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:20795159G>A	uc010kuh.3	+	27	3923	c.3686G>A	c.(3685-3687)gGa>gAa	p.G1229E	ABCB5_uc003suw.4_Missense_Mutation_p.G784E	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	784					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTGCACAATGGAAAGATAAAG	0.448000														10			10		0	0	0.006214	0	0
HMOX1	3162	broad.mit.edu	37	22	35782755	35782755	+	Silent	SNP	C	T	T	rs148073049	by1000genomes	TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:35782755C>T	uc003ant.2	+	2	329	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	74					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	p.F74F(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GCCCAGTCTTCGCCCCTGTCT	0.612000														31			14		0	0	0.003163	0	0
TMF1	7110	broad.mit.edu	37	3	69097533	69097533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:69097533G>A	uc011bfx.2	-	1	570	c.323C>T	c.(322-324)aCc>aTc	p.T108I	TMF1_uc003dnn.3_Missense_Mutation_p.T108I	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	108					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTTCTGAATGGTCTGGACATC	0.453000														110			64		0	0	0.003610	0	0
C17orf47	284083	broad.mit.edu	37	17	56620976	56620976	+	Missense_Mutation	SNP	C	T	T	rs140186503		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:56620976C>T	uc002iwq.2	-	0	758	c.572G>A	c.(571-573)cGt>cAt	p.R191H	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	191								p.R191S(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAATCCTACGGGGAACTCT	0.448000														60			20		0	0	0.008871	0	0
GPR125	166647	broad.mit.edu	37	4	22390458	22390458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:22390458G>A	uc003gqm.1	-	18	3101	c.2836C>T	c.(2836-2838)Cct>Tct	p.P946S	GPR125_uc010ieo.1_Missense_Mutation_p.P802S|GPR125_uc003gql.1_Missense_Mutation_p.P73S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	946					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTGCGCTCAGGGTGTCTTTTC	0.448000														39			29		0	0	0.008361	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					37			28		0	0	0.007291	0	0
C15orf23	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:40675132G>A	uc001zll.3	+	0	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	C15orf23_uc001zlo.3_Silent_p.R32R|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.R32R	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	32						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTAGCTACCGGAAGTTTCTAT	0.577000														50			31		0	0	0.002836	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62645910	62645910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:62645910G>A	uc001jli.3	-	7	1973	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	RHOBTB1_uc009xpe.2_Missense_Mutation_p.A450V|RHOBTB1_uc001jlh.3_Missense_Mutation_p.A512V|RHOBTB1_uc001jlj.3_Missense_Mutation_p.A512V|RHOBTB1_uc001jlk.3_Missense_Mutation_p.A512V	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	512	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCCGAACATGGCTGCCATCCA	0.488000														63			10		0	0	0.008291	0	0
ROS1	6098	broad.mit.edu	37	6	117678055	117678055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:117678055G>A	uc003pxp.1	-	24	4077	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1293					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCAAAATTGGAAACTTCTGT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									19			9		0	0	0.006214	0	0
C7	730	broad.mit.edu	37	5	40959604	40959604	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:40959604G>C	uc003jmh.3	+	11	1657	c.1543G>C	c.(1543-1545)Ggg>Cgg	p.G515R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	515	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGTCCAAGGGAAGAAAAC	0.498000														13			4		0	0	0.000602	0	0
MON1B	22879	broad.mit.edu	37	16	77225452	77225452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:77225452C>T	uc002fez.3	+	1	400	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	MON1B_uc010vnf.2_Missense_Mutation_p.P24S|MON1B_uc010vng.2_Intron|MON1B_uc002ffa.3_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	24							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACGCAGTTCCCCAGTGAGGA	0.647000														9			3		0	0	0.004672	0	0
GHR	2690	broad.mit.edu	37	5	42689066	42689066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:42689066G>A	uc021xxv.1	+	3	369	c.232G>A	c.(232-234)Gag>Aag	p.E78K	GHR_uc003jmt.3_Missense_Mutation_p.E71K|GHR_uc003jmu.3_Missense_Mutation_p.E71K|GHR_uc003jmv.2_Missense_Mutation_p.E71K|GHR_uc021xxw.1_Missense_Mutation_p.E71K|GHR_uc021xxx.1_Missense_Mutation_p.E71K|GHR_uc021xxy.1_Missense_Mutation_p.E71K|GHR_uc021xxz.1_Missense_Mutation_p.E71K|GHR_uc021xya.1_Missense_Mutation_p.E71K|GHR_uc021xyb.1_Missense_Mutation_p.E71K|GHR_uc021xyc.1_Missense_Mutation_p.E71K|GHR_uc011cpq.2_Intron|GHR_uc021xyd.1_Missense_Mutation_p.E49K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	71					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTGGACAGATGAGGTTCATCA	0.453000														34			71		0	0	0.003610	0	0
TMEM74	157753	broad.mit.edu	37	8	109796863	109796863	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:109796863C>T	uc003ymy.1	-	1	570	c.465G>A	c.(463-465)ttG>ttA	p.L155L	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.L155L	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	155					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTTCAGATATCAAAGATATGG	0.498000														30			22		0	0	0.002299	0	0
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:1265997G>T	uc001lta.3	+	30	7946	c.7887G>T	c.(7885-7887)acG>acT	p.T2629T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2629T(2)|p.R2628L(1)|p.T2608T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637000														89			5		3.07112e-06	2.61346e-05	0.000978	1	0
C8B	732	broad.mit.edu	37	1	57425769	57425769	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:57425769A>G	uc001cyp.3	-	1	240	c.173T>C	c.(172-174)gTt>gCt	p.V58A	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.V6A	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	58					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCAGGGTAACATCCACACT	0.488000														21			31		0	0	0.008361	0	0
TMTC2	160335	broad.mit.edu	37	12	83289710	83289710	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:83289710G>A	uc001szt.3	+	2	1200	c.768G>A	c.(766-768)tcG>tcA	p.S256S	TMTC2_uc001szr.1_Silent_p.S256S|TMTC2_uc001szs.1_Silent_p.S256S|TMTC2_uc010suk.2_Silent_p.S11S	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	256						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTCCAACTCGGACAACCCCG	0.507000														55			41		0	0	0.002522	0	0
GPR37	2861	broad.mit.edu	37	7	124386647	124386647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:124386647C>T	uc003vli.3	-	1	2425	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	592						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCGAGAGTTCGAGTTCCGTG	0.483000														116			20		0	0	0.001882	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128887	3128887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:3128887G>A	uc021vzx.1	-	0	830	c.830C>T	c.(829-831)tCc>tTc	p.S277F	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S277F	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	277					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTGAGACAAGGATAGATCCTT	0.363000														26			29		0	0	0.006320	0	0
MUC5B	727897	broad.mit.edu	37	11	1265993	1265993	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:1265993G>T	uc001lta.3	+	30	7942	c.7883G>T	c.(7882-7884)cGc>cTc	p.R2628L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2628	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R2628L(2)|p.R2607L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACGGCACGCACGCTTCCA	0.642000														91			6		1.08611e-07	9.42742e-07	0.000978	1	0
LRP2	4036	broad.mit.edu	37	2	170019096	170019096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:170019096G>A	uc002ues.3	-	62	11986	c.11773C>T	c.(11773-11775)Cct>Tct	p.P3925S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3925					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAGGTTTAGGGGTCGGTTTT	0.388000														31			15		0	0	0.004990	0	0
SLC4A5	57835	broad.mit.edu	37	2	74460550	74460550	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:74460550G>A	uc002sko.1	-	17	2576	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.N858N|SLC4A5_uc010ffc.1_Silent_p.N858N|SLC4A5_uc002skp.1_Silent_p.N756N|SLC4A5_uc002sks.1_Silent_p.N820N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	858						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTCCTTCCGGTTGACAATGA	0.532000														54			22		0	0	0.003954	0	0
MBNL1	4154	broad.mit.edu	37	3	152150590	152150590	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:152150590C>T	uc003ezm.3	+	2	1219	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	MBNL1_uc003ezh.3_Silent_p.L144L|MBNL1_uc003ezi.3_Silent_p.L144L|MBNL1_uc003ezj.3_Silent_p.L87L|MBNL1_uc003ezl.3_Silent_p.L144L|MBNL1_uc003ezp.3_Silent_p.L144L|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron|MBNL1_uc010hvp.3_Silent_p.L52L	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	144					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTCCAAGCCTGGTCCCGGC	0.498000														110			42		0	0	0.002522	0	0
A4GNT	51146	broad.mit.edu	37	3	137849889	137849889	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:137849889G>A	uc003ers.2	-	1	412	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	70					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.S70Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CAGACTCTACGGAACAGGAGA	0.532000														159			134		0	0	0.003610	0	0
CCDC116	164592	broad.mit.edu	37	22	21990800	21990800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr22:21990800C>T	uc002zve.3	+	4	1376	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	428										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TCTCACTTCTCCAACCGCCTT	0.592000														12			12		0	0	0.001368	0	0
CAMK1D	57118	broad.mit.edu	37	10	12858327	12858327	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:12858327G>A	uc001ilo.3	+	8	1068	c.833_splice	c.e8+1	p.W278_splice	CAMK1D_uc001iln.3_Splice_Site_p.W278_splice	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	278	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CGGCACCCATGGTAAGGAAAT	0.502000														47			71		0	0	0.003610	0	0
CXorf21	80231	broad.mit.edu	37	X	30578040	30578040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chrX:30578040G>A	uc022bui.1	-	0	433	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	CXorf21_uc004dcg.2_Missense_Mutation_p.P145S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	145										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTCTCAGAGGGAAAATCTGTT	0.433000														3			15		0	0	0.006122	0	0
OR5C1	392391	broad.mit.edu	37	9	125552169	125552169	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:125552169C>A	uc011lzd.2	+	0	958	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCAGGGGTCCCAGTGATTGGT	0.597000														15			20		8.10497e-08	7.10618e-07	0.001523	1	0
PRKD2	25865	broad.mit.edu	37	19	47192935	47192935	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr19:47192935G>A	uc002pfh.3	-	14	2172	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	PRKD2_uc010eks.3_Silent_p.I13I|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Silent_p.I453I|PRKD2_uc002pfi.3_Silent_p.I610I|PRKD2_uc002pfj.3_Silent_p.I610I|PRKD2_uc010xye.2_Silent_p.I610I|PRKD2_uc002pfk.3_Silent_p.I453I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	610	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCAGGTTCACGATCCCGGGAT	0.587000														44			40		0	0	0.002852	0	0
CA9	768	broad.mit.edu	37	9	35675829	35675829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:35675829C>T	uc003zxo.4	+	2	547	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	169	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATCCGCCCCCAGCTCGCCGC	0.716000														1			14		0	0	0.002450	0	0
CRH	1392	broad.mit.edu	37	8	67089264	67089264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:67089264C>T	uc022avj.1	-	0	449	c.449G>A	c.(448-450)aGa>aAa	p.R150K	CRH_uc003xvy.2_Missense_Mutation_p.R150K	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	150					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CCGCCTTTCTCTCTCCGGTGC	0.677000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			11		0	0	0.000978	0	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:8307709A>G	uc003gla.3	+	8	1415	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000														44			4		0	0	0.000602	0	0
ZNF532	55205	broad.mit.edu	37	18	56585630	56585630	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:56585630T>G	uc010xeg.2	+	2	308	c.111T>G	c.(109-111)caT>caG	p.H37Q	ZNF532_uc002lhp.3_Missense_Mutation_p.H35Q|ZNF532_uc002lho.3_Missense_Mutation_p.H37Q|ZNF532_uc002lhr.3_Missense_Mutation_p.H35Q|ZNF532_uc002lhs.3_Missense_Mutation_p.H35Q	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D36G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACGATGACCATGAAAGCCACA	0.493000														29			8		0	0	0.003080	0	0
MS4A1	931	broad.mit.edu	37	11	60233627	60233627	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:60233627C>A	uc009yna.3	+	4	897	c.570C>A	c.(568-570)ttC>ttA	p.F190L	MS4A1_uc009ymz.3_Missense_Mutation_p.F190L|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.F190L|MS4A1_uc001npq.3_Missense_Mutation_p.F190L	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	190					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AATCTCTGTTCTTGGTAAGTG	0.418000														45			9		2.74318e-10	2.42967e-09	0.006214	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120300219	120300219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:120300219G>A	uc001pxl.2	+	8	991	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	ARHGEF12_uc009zat.3_Missense_Mutation_p.R200Q|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R116Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R116Q|ARHGEF12_uc021qrm.1_Missense_Mutation_p.R200Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	219					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAACAGGAACGGCTACAGGTA	0.358000			T	MLL	AML									28			21		0	0	0.002299	0	0
BSN	8927	broad.mit.edu	37	3	49700470	49700470	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr3:49700470G>C	uc003cxe.4	+	6	10993	c.10879G>C	c.(10879-10881)Ggc>Cgc	p.G3627R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3627					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)		CCCTGAGGAGGGCCTGTGGCC	0.667000														34			9		0	0	0.008291	0	0
NOL4	8715	broad.mit.edu	37	18	31599485	31599485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:31599485C>T	uc010dmi.3	-	5	1151	c.853G>A	c.(853-855)Gag>Aag	p.E285K	NOL4_uc010xbs.2_5'UTR|NOL4_uc002kxr.4_Missense_Mutation_p.E121K|NOL4_uc010xbt.2_Missense_Mutation_p.E211K|NOL4_uc010dmh.3_Missense_Mutation_p.E211K|NOL4_uc010xbu.2_Missense_Mutation_p.E285K|NOL4_uc002kxt.4_Missense_Mutation_p.E285K|NOL4_uc010xbv.1_Missense_Mutation_p.E34K	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	285						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCCCATCTCCCTGCTGTGT	0.507000														36			5		0	0	0.000602	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042177	59042177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:59042177C>T	uc001cyz.4	-	0	990	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	218					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TCGCCGATATCCACGTCACCG	0.652000														9			3		0	0	0.000602	0	0
KCNT1	57582	broad.mit.edu	37	9	138641983	138641983	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:138641983G>A	uc011mdq.2	+	2	368	c.294G>A	c.(292-294)aaG>aaA	p.K98K	KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Silent_p.K50K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	98						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACACCTTCAAGGAGCGGCTCA	0.607000														2			25		0	0	0.007291	0	0
SYCP2	10388	broad.mit.edu	37	20	58476769	58476769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:58476769G>A	uc002yaz.3	-	14	1269	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	SYCP2_uc010gju.1_Missense_Mutation_p.S278L	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	377					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATTTCTAGTGATGCGTCAAA	0.279000														19			13		0	0	0.001855	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833837	101833837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:101833837G>A	uc001pgm.3	+	5	2341	c.2071G>A	c.(2071-2073)Gag>Aag	p.E691K	KIAA1377_uc001pgn.3_Missense_Mutation_p.E647K|KIAA1377_uc010run.2_Missense_Mutation_p.E492K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E492K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	691							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGTCCAGGGAGGATTCTAT	0.383000														53			35		0	0	0.002222	0	0
FRMD5	84978	broad.mit.edu	37	15	44211676	44211676	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:44211676G>A	uc001ztl.3	-	3	487	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	FRMD5_uc001ztk.1_Silent_p.L15L|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	104	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTTCTTTCAGAGCAGCAGGG	0.517000														85			103		0	0	0.003610	0	0
DSEL	92126	broad.mit.edu	37	18	65180318	65180318	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:65180318G>T	uc002lke.1	-	1	2782	c.1558C>A	c.(1558-1560)Cag>Aag	p.Q520K	DSEL_uc021ulg.1_Missense_Mutation_p.Q520K	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	510						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTATTACACTGGCTTGAGGGT	0.493000														24			6		8.12818e-05	0.000684977	0.001984	1	0
DDX59	83479	broad.mit.edu	37	1	200635682	200635682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:200635682G>A	uc009wzk.3	-	1	430	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	DDX59_uc010ppl.1_Missense_Mutation_p.P63S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	63						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CCTGGGCTGGGGAAAGGGCAT	0.517000														52			14		0	0	0.002450	0	0
ALPK3	57538	broad.mit.edu	37	15	85400485	85400485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:85400485C>T	uc002ble.3	+	5	3289	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1041					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCCAGTGCCCCAAGGAGGAG	0.642000														11			14		0	0	0.001855	0	0
SLIT3	6586	broad.mit.edu	37	5	168671712	168671712	+	Missense_Mutation	SNP	C	T	T	rs144462879	by1000genomes	TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:168671712C>T	uc010jjg.3	-	2	758	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	SLIT3_uc003mab.3_Missense_Mutation_p.R113Q|SLIT3_uc010jji.2_Missense_Mutation_p.R113Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	113					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.R113R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTTACAGTCGCTCTAGCTG	0.413000														25			4		0	0	0.000248	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215878	21215878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr14:21215878G>A	uc021rom.1	+	0	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K	EDDM3A_uc001vyc.3_Missense_Mutation_p.E47K	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	47					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGAATTCAAAGAGTACAAATG	0.383000														24			16		0	0	0.004007	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604592	58604592	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:58604592C>T	uc001nnd.4	-	4	503	c.372G>A	c.(370-372)caG>caA	p.Q124Q	GLYATL2_uc009ymq.3_Silent_p.Q124Q	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	124						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTAATCTACCTGCACTGATT	0.393000														25			21		0	0	0.008871	0	0
PENK	5179	broad.mit.edu	37	8	57354022	57354022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr8:57354022C>T	uc003xsz.2	-	1	694	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PENK_uc003xta.3_Missense_Mutation_p.E205K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	205					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCTGCAGCTCTTTGGCTTCA	0.517000														46			33		0	0	0.003271	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938344	2938344	+	Silent	SNP	C	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:2938344C>A	uc001ajz.3	+	0	299	c.94C>A	c.(94-96)Cgg>Agg	p.R32R		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	32						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTTTGGACCCCGGCACATGGT	0.577000														29			4		2.56e-06	2.20008e-05	0.000248	1	0
LRP2	4036	broad.mit.edu	37	2	169995204	169995204	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:169995204G>A	uc002ues.3	-	74	13614	c.13401C>T	c.(13399-13401)ctC>ctT	p.L4467L		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4467					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGCTTGACGAGACTGCTTA	0.408000														23			11		0	0	0.001368	0	0
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:2995776C>T	uc010vrb.2	-	0	515	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468000														26			10		0	0	0.006214	0	0
HTR3B	9177	broad.mit.edu	37	11	113802112	113802112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:113802112G>A	uc001pok.3	+	2	358	c.220G>A	c.(220-222)Gag>Aag	p.E74K	HTR3B_uc001pol.3_Missense_Mutation_p.E63K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	74					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCAGGATGCAGAGAATCAAAT	0.328000														14			5		0	0	0.003080	0	0
CD4	920	broad.mit.edu	37	12	6909590	6909590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:6909590C>T	uc001qqv.2	+	2	425	c.167C>T	c.(166-168)tCc>tTc	p.S56F	CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	56	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.N55N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGGAAAAACTCCAACCAGATA	0.473000														20			8		0	0	0.006214	0	0
STX5	6811	broad.mit.edu	37	11	62592938	62592938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:62592938C>T	uc001nvh.3	-	5	654	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	STX5_uc010rmj.2_Missense_Mutation_p.R166Q|STX5_uc010rmi.2_Missense_Mutation_p.R70Q	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	166					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus	SNAP receptor activity|protein N-terminus binding			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGCAGGTGCCGGCCACTCTG	0.532000														78			6		0	0	0.003080	0	0
GBX2	2637	broad.mit.edu	37	2	237074899	237074899	+	Silent	SNP	G	A	A	rs113681406		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:237074899G>A	uc002vvw.1	-	1	743	c.705C>T	c.(703-705)agC>agT	p.S235S	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	235				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCGCGGCGCCGCTGCTCGGCG	0.662000														40			8		0	0	0.003080	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675875	46675875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:46675875C>T	uc010jzf.3	-	9	1162	c.893G>A	c.(892-894)tGg>tAg	p.W298*	PLA2G7_uc021zae.1_Nonsense_Mutation_p.W298*	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	298					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGAAACATCCATGCATCCAG	0.358000														32			17		0	0	0.007413	0	0
C6orf58	352999	broad.mit.edu	37	6	127911457	127911457	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:127911457G>A	uc003qbh.3	+	4	912	c.900G>A	c.(898-900)gtG>gtA	p.V300V		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	300						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTGACAATGTGGATAAATCTA	0.308000														31			19		0	0	0.001523	0	0
RRBP1	6238	broad.mit.edu	37	20	17614161	17614161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:17614161G>A	uc002wpw.1	-	7	1532	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	RRBP1_uc002wpu.3_Missense_Mutation_p.R193W|RRBP1_uc010gcl.1_Missense_Mutation_p.R193W|RRBP1_uc002wpv.1_Missense_Mutation_p.R419W|RRBP1_uc010gcm.1_Silent_p.S4S	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	852	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGAGCTTTCCGCTGCTGCTCA	0.622000														31			4		0	0	0.000248	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516465	138516465	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr9:138516465G>A	uc010nbd.1	-	4	563	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	103					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGCCTGTCATGAAGTGCTTAT	0.458000														6			25		0	0	0.006320	0	0
PRIC285	85441	broad.mit.edu	37	20	62192794	62192794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr20:62192794G>A	uc002yfm.2	-	13	7754	c.6862C>T	c.(6862-6864)Cgg>Tgg	p.R2288W	PRIC285_uc002yfl.1_Missense_Mutation_p.R1719W	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2288					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGGGCCTGCCGGATCCGGTGG	0.637000														70			70		0	0	0.003610	0	0
RSPO1	284654	broad.mit.edu	37	1	38082336	38082336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:38082336C>T	uc001cbl.2	-	4	998	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	RSPO1_uc009vvf.2_Missense_Mutation_p.G9R|RSPO1_uc001cbm.2_Missense_Mutation_p.G36R|RSPO1_uc009vvg.2_Missense_Mutation_p.G36R	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	36					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTGGCTCCCCTCGGCACTG	0.557000														29			22		0	0	0.001882	0	0
PTPRC	5788	broad.mit.edu	37	1	198685933	198685933	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:198685933A>T	uc001gur.1	+	12	1588	c.1408A>T	c.(1408-1410)Agt>Tgt	p.S470C	PTPRC_uc001gut.1_Missense_Mutation_p.S309C|PTPRC_uc009wzf.1_Missense_Mutation_p.S358C|PTPRC_uc021pgy.1_Missense_Mutation_p.S424C|PTPRC_uc010ppg.1_Missense_Mutation_p.S406C	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	470	Fibronectin type-III 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACGTAATGGAAGTGCTGCAAT	0.303000														27			21		0	0	0.001523	0	0
FCRLB	127943	broad.mit.edu	37	1	161693304	161693304	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:161693304T>G	uc001gbh.3	+	4	434	c.200T>G	c.(199-201)cTt>cGt	p.L67R	FCRLB_uc009wus.3_Missense_Mutation_p.L67R|FCRLB_uc001gbi.3_Missense_Mutation_p.L67R|FCRLB_uc001gbj.3_Missense_Mutation_p.L67R|FCRLB_uc001gbk.3_Missense_Mutation_p.L67R|FCRLB_uc001gbl.3_Missense_Mutation_p.L60R|FCRLB_uc001gbm.3_Missense_Mutation_p.L60R|FCRLB_uc001gbn.4_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	67	Ig-like C2-type 1.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGCCACCTACTTCTGCCCTCT	0.557000														63			8		0	0	0.003080	0	0
KDR	3791	broad.mit.edu	37	4	55953824	55953824	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:55953824C>T	uc003has.3	-	26	3914	c.3612G>A	c.(3610-3612)gaG>gaA	p.E1204E	KDR_uc003hat.1_Silent_p.E1204E	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1204					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATACTTCCTCCTCCTCCATAC	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				26			5		0	0	0.000602	0	0
PRSS8	5652	broad.mit.edu	37	16	31144273	31144273	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:31144273C>T	uc002ebc.4	-	4	599	c.267_splice	c.e4-1	p.S89_splice	PRSS8_uc010vfe.2_Intron	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	89	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						TTGTGGTGCTCGCTGCAGGCA	0.607000														35			50		0	0	0.003610	0	0
AGBL5	60509	broad.mit.edu	37	2	27280274	27280274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr2:27280274C>T	uc002rie.3	+	8	1856	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	AGBL5_uc002rid.3_Missense_Mutation_p.P547S|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	547					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGCTTTCCCCTCCAGATA	0.522000														28			46		0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566516	4566516	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:4566516C>T	uc010qyf.2	+	0	96	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCATCCCCTTTGGCTCCA	0.542000														55			9		0	0	0.004482	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582732	90582732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr10:90582732G>A	uc001kfj.4	-	5	910	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	181								p.S181F(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCAATCTGGGAAAATTTTAA	0.393000														65			16		0	0	0.004990	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638892	26638892	+	Silent	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr4:26638892C>T	uc003gsf.4	+	4	624	c.354C>T	c.(352-354)atC>atT	p.I118I	TBC1D19_uc010iew.3_Silent_p.I118I|TBC1D19_uc011bxu.2_Silent_p.I53I	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	118						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTGAGTATCCCACTGGCAC	0.303000														9			15		0	0	0.004990	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328390	61328390	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr18:61328390T>A	uc002lji.3	-	1	205	c.61A>T	c.(61-63)Aaa>Taa	p.K21*	SERPINB3_uc002ljg.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqa.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqb.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqc.2_Nonsense_Mutation_p.K21*	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	21					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTTGATTTTCTGAACTGT	0.428000														66			10		0	0	0.008291	0	0
GABRA6	2559	broad.mit.edu	37	5	161116024	161116024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr5:161116024G>A	uc003lyu.2	+	3	633	c.295G>A	c.(295-297)Gag>Aag	p.E99K	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	99					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGGGCCAACTGAGATTCTGAG	0.418000										TCGA Ovarian(5;0.080)				18			41		0	0	0.003214	0	0
CNOT4	4850	broad.mit.edu	37	7	135048708	135048708	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr7:135048708G>T	uc011kpy.2	-	10	2069	c.1738C>A	c.(1738-1740)Ccc>Acc	p.P580T	CNOT4_uc011kpz.2_Missense_Mutation_p.P577T|CNOT4_uc003vst.3_Intron|CNOT4_uc003vss.3_Intron	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	260					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCGTTGGAGGGGGAAGAAGAA	0.532000														163			6		0.00116845	0.00975203	0.001168	1	0
ZNF213	7760	broad.mit.edu	37	16	3188500	3188500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:3188500C>T	uc010uws.2	+	2	928	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.R161W|ZNF213_uc010uwt.2_Missense_Mutation_p.R161W	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	161					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGTGGGGGCACGGAGGCGGCC	0.672000														21			26		0	0	0.003954	0	0
CR2	1380	broad.mit.edu	37	1	207646442	207646442	+	Silent	SNP	T	C	C			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr1:207646442T>C	uc001hfw.3	+	9	2015	c.1896T>C	c.(1894-1896)agT>agC	p.S632S	CR2_uc001hfv.3_Silent_p.S632S|CR2_uc009xch.3_Silent_p.S632S|CR2_uc009xci.1_Silent_p.S117S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	632	Sushi 10.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.Y631F(1)|p.Y631L(1)|p.Y631*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTGTTATAGTGGATTTACTT	0.408000														45			14		0	0	0.003163	0	0
ZFP57	346171	broad.mit.edu	37	6	29643801	29643801	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr6:29643801G>A	uc011dlw.2	-	1	310	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	25	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.F33L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTCCTGGGTGAAATTCACTG	0.448000														58			40		0	0	0.003214	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226242	79226242	+	Silent	SNP	G	A	A			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:79226242G>A	uc002jzz.1	-	12	2073	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	SLC38A10_uc002jzy.1_Silent_p.A484A|SLC38A10_uc002kab.3_Silent_p.A566A	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	566					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCCTCCAAGGCCTGGGCCT	0.627000														35			25		0	0	0.008361	0	0
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	-	-	rs61747093		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr11:1577819_1577820delCG	uc001lts.2	-	6	1934_1935	c.1806_1807delCG	c.(1804-1809)cgcggcfs	p.R602fs	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	602					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752													---	4	---	---	2	---					
DNM1L	10059	broad.mit.edu	37	12	32896297	32896297	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr12:32896297delG	uc010skh.1	+	20	2364	c.2362delG	c.(2362-2364)ggafs	p.G788fs	DNM1L_uc001rld.2_Frame_Shift_Del_p.G722fs|DNM1L_uc001rle.2_Frame_Shift_Del_p.G696fs|DNM1L_uc001rlf.2_Frame_Shift_Del_p.G685fs|DNM1L_uc001rlg.2_Frame_Shift_Del_p.G777fs|DNM1L_uc001rlh.2_Frame_Shift_Del_p.G764fs|DNM1L_uc010ski.1_Frame_Shift_Del_p.G519fs	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	722					cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCATTACAAGGAGCCAGTCA	0.323													---	21	---	---	10	---					
CLK3	1198	broad.mit.edu	37	15	74908164	74908164	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr15:74908164delG	uc010uln.2	+	0	830	c.369delG	c.(367-369)gcgfs	p.A123fs	CLK3_uc002ayg.4_Intron|CLK3_uc002ayh.4_Intron|CLK3_uc010ulm.1_Frame_Shift_Del_p.A123fs|CLK3_uc002ayj.4_5'Flank	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	123						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGCCACGGGCGGAGGTCGCAG	0.756													---	4	---	---	2	---					
GNPTG	84572	broad.mit.edu	37	16	1412536	1412537	+	Splice_Site	INS	-	T	T			TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr16:1412536_1412537insT	uc002clm.3	+	8	676	c.609_splice	c.e8+1	p.Q203_splice		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	203						Golgi apparatus|extracellular region	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CACCCCCCAGGTAAGCGTGCGC	0.653													---	10	---	---	23	---					
CBX4	8535	broad.mit.edu	37	17	77808240	77808241	+	In_Frame_Ins	INS	-	GTG	GTG	rs3833850		TCGA-EE-A29W-06A-11D-A196-08	TCGA-EE-A29W-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f57a7183-ae50-4516-85d1-da7838f08943	6ef9abc6-ca60-47fd-bb96-d524b15a7ebf	g.chr17:77808240_77808241insGTG	uc002jxe.3	-	4	1363_1364	c.1200_1201insCAC	c.(1198-1203)insCAC	p.400_401insH		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCGACGGCgtggtggtggt	0.703													---	7	---	---	4	---					
